Centre de référence des maladies rénales héréditaires de l’enfant et de l’adulte (MARHEA)
Les maladies rénales rares ont le plus souvent une origine génétique. Le diagnostic de ces maladies est confirmé par l’analyse des gènes responsables.
Le centre maladies rares MARHEA a pour mission la prise en charge, sous tous ses différents aspects, des pathologies rénales rares :
- dans les services de néphrologie pédiatrique : hôpital Necker-Enfants malades, hôpital Robert-Debré, hôpital Trousseau, hôpital de la Cavale Blanche (Brest)
- dans les services de génétique de l’hôpital Necker-Enfants malades et de l’hôpital européen Georges-Pompidou,
- dans les service de néphrologie adulte de l’hôpital Necker-Enfants malades, de l’hôpital Tenon et de l’hôpital de la Cavale Blanche (Brest) en collaboration étroite avec les centres de compétences répartis sur l’ensemble du territoire français.
Ce centre de référence est affilié à la filière de santé maladies rares ORKID et au réseau européen de référence (ERN) ERKNet.
Médecins
responsables
Coordonnatrice du CRMR
Dr Laurence Heidet
Néphrologue pédiatre
Pr Rémi Salomon
Néphrologue adulte
Pour prendre rendez-vous
Pour un enfant* :
Tél. 01 44 49 44 62
*Doctolib est réservé aux demandes de consultation de suivi
Pour une demande de première consultation, vous pouvez adresser votre demande via le formulaire suivant.
Pour un patient adulte :
(1ère consultation et suivi)
Tél. 01 44 49 54 61
En cas
d’urgence
- Anomalies sévères du développement du rein et des voies urinaires
- Amyloses héréditaires
- Maladies rénales kystiques héréditaires
- Maladies glomérulaires héréditaires
- Maladies métaboliques avec atteinte rénale, dont les lithiases métaboliques
- Tubulopathies héréditaires
- Syndrome hémolytique et urémique atypique
- Syndrome néphrotique idiopathique
- Maladies rénales tubulo-interstitielles héréditaires
- Insuffisance rénale chronique de l’enfant
- Cystinose
Néphrologie pédiatrique
Coordonnatrice du CRMR
Dr Laurence Heidet
néphrologue pédiatre
Pr Rémi Salomon
néphrologue pédiatre
Pr Olivia Gillion Boyer
néphrologue pédiatre
Dr Laurène Dehoux
néphrologue pédiatre
Dr Marina Charbit
néphrologue pédiatre
Dr Nathalie Biebuyck-Gouge
néphrologue pédiatre
Pr Corinne Antignac
généticienne
Lorna Rouhaud
chargée de mission de la filière ORKID
Néphrologie adulte
Parcours éducatif des enfants/adolescents en insuffisance rénale chronique : du diagnostic à la thérapeutique
Cystinose
Maladie rénale chronique de l'enfant
Maladie liée à HNF1β
Syndrome hémolytique et urémique (SHU)
Recherche
Annonce diagnostique d’une anomalie rénale dépistée en anté-natal (ADARAN)
Etablissement de deux cohortes RADICO (ECYSCO : cystinose ; EURBIO-ALPORT : syndrome d’Alport)
Identification de nouveaux gènes impliqués dans les maladies rénales monogéniques
Enseignement
Diplôme interuniversitaire de néphrologie pédiatrique
Université de Paris, université de Nice, université Lyon I et université de Montpellier
2024
- Reassuring pregnancy outcomes in women with mild COL4A3-5-related disease (Alport syndrome) and genetic type of disease can aid personalized counseling.
Gosselink ME, Snoek R, Cerkauskaite-Kerpauskiene A, et al.
Kidney Int. 2024 May;105(5):1088-1099. DOI: 10.1016/j.kint.2024.01.034. PMID: 38382843. - Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.
Dollfus H, Lilien MR, Maffei P, et al. Eur J Hum
Genet. 2024 Jul 31. DOI: 10.1038/s41431-024-01634-7. PMID: 39085583. - Complement Terminal Pathway Activation and Intrarenal Immune Response in C3 Glomerulopathy.
Meuleman MS, Petitpre F, Pickering MC, et al. J Am Soc
Nephrol. 2024 Aug 1;35(8):1034-1044. DOI: 10.1681/ASN.0000000000000373. PMID: 38709564. - Correction: The 2019 and 2021 International workshops on Alport syndrome.
Daga S, Ding J, Deltas C, et al. Eur J Hum
Genet. 2024 Jan;32(1):130. DOI: 10.1038/s41431-023-01286-z. PMID: 36690832. - Development of clinical and laboratory biomarkers in an international cohort of 428 children with lupus nephritis.
De Mutiis C, Wenderfer SE, Basu B, et al.
Pediatr Nephrol. 2024 Oct;39(10):2959-2968. DOI: 10.1007/s00467-024-06405-6. PMID: 38802607. - Diffuse Endocapillary Glomerulonephritis in a Child With IL-17RA Deficiency Emphasizes the Pivotal Role of the Complement Cascade and Anaphylatoxins.
d’Izarny-Gargas T, Grapin M, Grunenwald A, et al.
Kidney Int Rep. 2023 Aug 26;8(11):2488-2491. DOI: 10.1016/j.ekir.2023.08.022. PMID: 38025236. - Effect of urine alkalization on urinary inflammatory markers in cystinuric patients.
Prot-Bertoye C, Jung V, Tostivint I, et al.
Clin Kidney J. 2024 Feb 22;17(3). DOI: 10.1093/ckj/sfae040. PMID: 38510798. - Fertility Management in Cystinosis: A Clinical Perspective.
Langman CB, Delos Santos RB, Ghossein C, et al.
Kidney Int Rep. 2023 Nov 3;9(2):214-224. DOI: 10.1016/j.ekir.2023.10.030. PMID: 38344731. - Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome.
Billon C, Piccoli GB, de Sainte Agathe JM, et al.
Mol Genet Genomics. 2024;99. DOI: 10.1007/s00438-024- - HDR syndrome: Large cohort and systematic review.
Lafond-Rive V, Jonard L, Loundon N, et al. Clin Genet. 2024;106(5):564-573. DOI: 10.1111/cge.14583. PMID: 38940299. - HERA Clinical Trial Group. A Randomized Controlled Clinical Trial Testing Effects of Lademirsen on Kidney Function Decline in Adults with Alport Syndrome.
Gale DP, Gross O, Wang F, et al. Clin J Am Soc
Nephrol. 2024 Aug 1;19(8):995-1004. DOI: 10.2215/CJN.0000000000000458. PMID: 38829703. - HYDROchlorothiazide versus placebo to PROTECT polycystic kidney disease patients and improve their quality of life: study protocol and rationale for the HYDRO-PROTECT randomized controlled trial.
Bais T, Meijer E, Kramers BJ, et al.
Trials. 2024 Feb 14;25(1):120. DOI: 10.1186/s13063-024-07952-x. PMID: 38355627. - IgA nephropathy in children with minimal proteinuria: to biopsy or not to biopsy?
Cambier A, Roy JP, Dossier C, et al.
Pediatr Nephrol. 2024 Mar;39(3):781-787. DOI: 10.1007/s00467-023-06121-7. PMID: 37698655. - IgG-immunoadsorptions and eculizumab combination in STEC-hemolytic and uremic syndrome pediatric patients with neurological involvement.
Duneton C, Kwon T, Dossier C, et al.
Pediatr Nephrol. 2024 Sep 19. DOI: 10.1007/s00467-024-06418-1. PMID: 39297957. - IPNA clinical practice recommendations for the diagnosis and management of children with IgA nephropathy and IgA vasculitis nephritis.
Vivarelli M, Samuel S, Coppo R, et al.
Pediatr Nephrol. 2024 Sep 27. DOI: 10.1007/s00467-024-06502-6. PMID: 39331079. - Long-term outcomes of childhood-onset systemic lupus erythematosus.
Mirguet A, Aeschlimann FA, Lemelle I, et al.
Rheumatology (Oxford). 2024 Jul 15. DOI: 10.1093/rheumatology/keae344. PMID: 39008948. - Long-term urological and nephrological outcome after in-utero incision of obstructive duplex-system ureterocele.
Vinit N, Heidet L, Taghavi K, et al.
Ultrasound Obstet Gynecol. 2024. DOI: 10.1002/uog.22525. - Multipopulation genome-wide association meta-analysis in pediatric steroid-sensitive nephrotic syndrome.
Boyer O, Dorval G.
Kidney Int. 2024 Jan;105(1):14-17. DOI: 10.1016/j.kint.2023.08.022. PMID: 37714428. - Performance and clinical utility of a new supervised machine-learning pipeline in detecting rare ciliopathy patients based on deep phenotyping from electronic health records and semantic similarity.
Faviez C, Vincent M, Garcelon N, et al.
Orphanet J Rare Dis. 2024 Feb 10;19(1):55. DOI: 10.1186/s13023-024-03063-7. PMID: 38336713. - Prevalence of Fabry Disease in Patients on Dialysis in France.
Sens F, Guittard L, Knebelmann B, et al.
Int J Mol Sci. 2024 Sep 20;25(18):10104. DOI: 10.3390/ijms251810104. PMID: 39337589. - Primary hyperoxaluria in adults and children: a nationwide cohort highlights a persistent diagnostic delay.
Pszczolinski R, Acquaviva C, Berrahal I, et al.
Clin Kidney J. 2024 Apr 3;17(5) DOI: 10.1093/ckj/sfae099. PMID: 38737343. - Recent Developments in the Treatment of Pediatric Distal Renal Tubular Acidosis.
Boyer O, Ould Rabah M, Preka E.
Paediatr Drugs. 2024 Sep 26. DOI: 10.1007/s40272-024-00651-9. PMID: 39325135. - Recombinant ADAMTS13 in Congenital Thrombotic Thrombocytopenic Purpura.
Scully M, Antun A, Cataland SR, et al. N
Engl J Med. 2024 May 2;390(17):1584-1596. DOI: 10.1056/NEJMoa2314793. PMID: 38692292. - Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions.
Buffin-Meyer B, Richard J, Guigonis V, et al.
Kidney Int Rep. 2024;9:2514-2526. DOI: 10.1016/j.ekir.2024.05.007. PMID: 39156164. - Single-cell transcriptomics identifies aberrant glomerular angiogenic signalling in the early stages of WT1 kidney disease.
Chandler JC, Jafree DJ, Malik S, et al. J
Pathol. 2024 Oct;264(2):212-227. DOI: 10.1002/path.6339. PMID: 39177649. - Social Deprivation and Incidence of Pediatric Kidney Failure in France.
Driollet B, Couchoud C, Bacchetta J, et al. Kidney
Int Rep. 2024 Apr 26;9(7):2269-2277. DOI: 10.1016/j.ekir.2024.04.042. PMID: 39081742. - Steroid-Resistant Nephrotic Syndrome due to NPHS2 Variants Is Not Associated With Posttransplant Recurrence.
Kachmar J, Boyer O, Lipska-Ziętkiewicz B, et al.
Kidney Int Rep. 2024;9:973-981. DOI: 10.1016/j.kintrep.2024.02.029. PMID: 39135644. - Targeted RNAseq from patients’ urinary cells to validate pathogenic noncoding variants in autosomal dominant polycystic kidney disease genes: a proof of concept.
Dorval G, Le Gac G, Morinière V, et al.
Kidney Int. 2024 Sep;106(3):532-535. DOI: 10.1016/j.kint.2024.05.029. PMID: 38944240. - To biopsy or not to biopsy a teenager with typical idiopathic nephrotic syndrome? Start steroids first.
Boyer O, Bernardi S, Preka E.
Pediatr Nephrol. 2024 Sep 11. DOI: 10.1007/s00467-024-06447-w. PMID: 39259322. - Unusual familial cystic kidney disease: combining fine radiologic and genetic evaluation to solve the case.
Bodard AS, Nabbout R, Hélénon O, Knebelmann B. BMC
Nephrol. 2024 Sep 30;25(1):325. DOI: 10.1186/s12882-024-03747-z. PMID: 39350077. - Vesico-ureteral reflux diagnosis after initial kidney abscess: Results from a Paediatric Tertiary Hospital.
Preka E, Miller N, Avramescu M, et al.
Acta Paediatr. 2024 Jul 5. DOI: 10.1111/apa.17353. PMID: 38967007. - Voice of a caregiver: call for action for multidisciplinary teams in the care for children with atypical hemolytic uremic syndrome.
Burke L, Sethi SK, Boyer O, et al.
Pediatr Nephrol. 2024 Jul;39(7):1961-1963. DOI: 10.1007/s00467-023-06158-8. PMID: 37782345. - Worldwide disparities in access to treatment and investigations for nephropathic cystinosis: a 2023 perspective.
Regnier M, Flammier S, Boutaba M, et al.
Pediatr Nephrol. 2024 Apr;39(4):1113-1123. DOI: 10.1007/s00467-023-06179-3. PMID: 37978055. - X-linked transient antenatal Bartter syndrome related to MAGED2 gene: enriching the phenotypic description and pathophysiologic investigation.
Buffet A, Filser M, Bruel A, et al.
Genet Med. 2024 Jul 18. DOI: 10.1016/j.gim.2024.101217. PMID: 39036894.
2023
- Major advances in pediatric nephro-genetics
Hureaux M, Heidet L, Vargas-Poussou R, Dorval G.
Med Sci (Paris). 2023 Mar;39(3):234-245. DOI: 10.1051/medsci/2023028. PMID: 36991234. - Neurological disorders and hereditary podocytopathies: Some fascinating pathophysiological overlaps
Boyer O, Mollet G, Dorval G.
Med Sci (Paris). 2023 Mar;39(3):246-252. DOI: 10.1051/medsci/2023029. PMID: 36991235. - Pediatric nephrology
Dorval G, Boyer O.
Med Sci (Paris). 2023 Mar;39(3):205. DOI: 10.1051/medsci/2023026. PMID: 36991233. - Towards understanding chronic kidney disease
Vergnaud P, Cohen C, Isnard P.
Med Sci (Paris). 2023 Mar;39(3):265-270. DOI: 10.1051/medsci/2023033. PMID: 36991236. - A multicenter retrospective study of calcineurin inhibitors in nephrotic syndrome secondary to podocyte gene variants
Malakasioti G, Iancu D, Milovanova A, et al.
Kidney Int. 2023 May;103(5):962-972. DOI: 10.1016/j.kint.2023.02.022. PMID: 36992117. - A specific molecular signature in SARS-CoV-2-infected kidney biopsies
Isnard P, Vergnaud P, Garbay S, et al.
JCI Insight. 2023 Mar 8;8(5). DOI: 10.1172/jci.insight.165192. PMID: 36871281. - A wave of deep intronic mutations in X-linked Alport syndrome
Boisson M, Arrondel C, Cagnard N, et al.
Kidney Int. 2023 Aug;104(2):367-377. DOI: 10.1016/j.kint.2023.05.006. PMID: 37020348. - Acute tubulointerstitial nephritis with or without uveitis: a novel form of post-acute COVID-19 syndrome in children
Avramescu M, Isnard P, Temmam S, et al.
Kidney Int. 2023 Mar;103(6):1193–1198. DOI: 10.1016/j.kint.2023.02.028. PMID: 37019591. - Adeno-associated virus gene therapy prevents progression of kidney disease in genetic models of nephrotic syndrome
Ding WY, Kuzmuk V, Hunter S, et al.
Sci Transl Med. 2023 Aug 9;15(708). DOI: 10.1126/scitranslmed.abc8226. PMID: 37410162. - An automated histological classification system for precision diagnostics of kidney allografts
Yoo D, Goutaudier V, Divard G, et al.
Nat Med. 2023 May;29(5):1211-1220. DOI: 10.1038/s41591-023-02323-6. PMID: 37056423. - ANCA-associated vasculitis in children
Bernardi S, Seugé L, Boyer O.
Nephrology Dialysis Transplantation. 2023 Jan;38(1):66–69. DOI: 10.1093/ndt/gfac265. PMID: 36484122. - Benefits of BNP/NT-proBNP serum level evaluation for dry weight adjustment in pediatric hemodialysis patients
Mouche A, Parmentier C, Fendri F, et al.
Pediatr Nephrol. 2023 Mar;38(3):811-818. DOI: 10.1007/s00467-022-05658-3. PMID: 36587458. - Biallelic NPR1 loss of function variants are responsible for neonatal systemic hypertension
Capri Y, Kwon T, Boyer O, et al. J
Med Genet. 2023 Oct;60(10):993-998. DOI: 10.1136/jmg-2023-109176. PMID: 37009833. - Bi-allelic pathogenic variants in ITGA8 cause slowly progressive renal disease of unknown etiology
Gómez-Conde S, Dunand O, Hummel A, et al.
Clin Genet. 2023 Jan;103(1):114-118. DOI: 10.1111/cge.14229. PMID: 36473896. - Bone mineral density and growth changes in patients with distal renal tubular acidosis after two-years treatment with a new alkalizing drug (ADV7103)
Bertholet-Thomas A, Manso-Silván MA, Navas-Serrano V, et al.
Nefrologia (Engl Ed). 2023 Jul-Aug;43(4):458-466. DOI: 10.1016/j.nefroe.2022.02.012. PMID: 36519858. - Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope
Groothoff JW, Metry E, Deesker L, et al.
Nat Rev Nephrol. 2023 Mar;19(3):194-211. DOI: 10.1038/s41581-022-00661-1. PMID: 36610125. - Diagnostic dilemma in a 3-year-old girl with acute nephritic syndrome and hematologic abnormalities: Answers
Innocenti S, Bernardi S, Prévot M, et al.
Pediatr Nephrol. 2023 Jul;38(7):2069-2076. DOI: 10.1007/s00467-022-05752-6. PMID: 36698754. - Dietary supplementation of cystinotic mice by lysine inhibits the megalin pathway and decreases kidney cystine content
Rega LR, Janssens V, Graversen JH, et al.
Sci Rep. 2023 Oct 12;13(1):17276. DOI: 10.1038/s41598-023-43105-x. PMID: 36912311. - French Recommendations for a National Competency Framework of Therapeutic Patient Education in Solid Organ Transplantation
Monchaud C, Villeneuve C, Belaiche S, et al.
Transplantation. 2023 Mar;107(3):549-553. DOI: 10.1097/TP.0000000000004354. PMID: 36989075. - Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease
Méaux MN, Harambat J, Rothenbuhler A, et al.
J Clin Endocrinol Metab. 2023 Mar;108(4):812-826. DOI: 10.1210/clinem/dgac639. PMID: 36987739. - Human kidney-derived hematopoietic stem cells can support long-term multilineage hematopoiesis
Sobrino S, Abdo C, Neven B, et al.
Kidney Int. 2023 Jan;103(1):70-76. DOI: 10.1016/j.kint.2022.08.024. PMID: 36528914. - Induction therapy for pediatric onset class IV lupus nephritis: Mycophenolate Mofetil versus Cyclophosphamide
Chbihi M, Eveillard LA, Riller Q, et al. J
Nephrol. 2023 Apr;36(3):829-839. DOI: 10.1007/s40620-022-01438-2. PMID: 36529483. - Investigating genotype-to-phenotype correlation in CHARGE syndrome by deep phenotyping and multiparametric clustering
Dana J, Dorval G, Martin CS, et al.
Clin Genet. 2023 Oct;104(4):466-471. DOI: 10.1111/cge.14363. PMID: 36591253. - Is ABO Incompatible Living Donor Kidney Transplantation in Children a Better Option than the Use of Optimal Grafts From Deceased Donors? A Plea for Better Prioritization of Deceased Kidney Grafts for Children
Boyer O, Pape L.
Transpl Int. 2023;36:11911. DOI: 10.3389/ti.2023.11911. PMID: 36578914. - Is withdrawal of nocturnal hyperhydration possible in children with primary hyperoxaluria treated with RNAi?
Biebuyck N, Destombes C, Prakash R, Boyer O. J
Nephrol. 2023 Jun;36(5):1473-1476. DOI: 10.1007/s40620-023-01611-1. PMID: 36580452. - Optimizing COVID-19 Vaccination Strategy in Pediatric Kidney Transplant Recipients: Humoral and Cellular Response to SARS-CoV-2 mRNA Vaccination
Nel I, Parmentier C, Dehoux L, et al.
Transpl Int. 2023;36:11153. DOI: 10.3389/ti.2023.11153. PMID: 36577841. - Outcome of children with IgA vasculitis with nephritis treated with steroids: a matched controlled study
Mary AL, Clave S, Rousset-Rouviere C, et al.
Pediatr Nephrol. 2023 Oct;38(10):3317-3326. DOI: 10.1007/s00467-023-05981-3. PMID: 36589852. - Overcoming the challenges associated with identification of deep intronic variants by whole genome sequencing
Dirix M, Gribouval O, Arrondel C, et al.
Clin Genet. 2023 Jun;103(6):693-698. DOI: 10.1111/cge.14305. PMID: 36598254. - Pediatric ANCA vasculitis: clinical presentation, treatment, and outcomes in a French retrospective study
Mahi SL, Bahram S, Harambat J, et al.
Pediatr Nephrol. 2023 Aug;38(8):2649-2658. DOI: 10.1007/s00467-022-05855-0. PMID: 36599432. - Prednisolone pharmacokinetics after oral prednisone administration in paediatric patients with kidney transplant
Truchis C, Bouazza N, Foissac F, et al. Br J Clin
Pharmacol. 2023 May;89(5):1532-1540. DOI: 10.1111/bcp.15610. PMID: 36579956. - Renal arcuate vein thrombosis-induced acute kidney injury: a rare multiple-hit-mediated disease
Pardinhas C, Filipe R, Vergnaud P, et al. Clin
Kidney J. 2022 Nov 11;16(2):367-373. DOI: 10.1093/ckj/sfac244. PMID: 36577591. - Ruxolitinib rescues multiorgan clinical autoimmunity in patients with APS-1
Lévy R, Escudier A, Bastard P, et al. J Clin
Immunol. 2023 Dec;44(1):5. DOI: 10.1007/s10875-023-01629-x. PMID: 36598233. - The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies
Petzold F, Billot K, Chen X, et al.
Kidney Int. 2023 Aug;104(2):378-387. DOI: 10.1016/j.kint.2023.05.007. PMID: 37020349. - The Smart Data Extractor, a clinician-friendly solution to accelerate and improve data collection during clinical trials
Quennelle S, Douillet M, Friedlander L, et al.
Stud Health Technol Inform. 2023;302:247-251. DOI: 10.3233/SHTI230112. PMID: 36578732. - Vaccination practices in pediatric transplantation: A survey among member centers of the European reference network TransplantChild
Donà D, Bravo-Gallego LY, Remacha EF, et al.
Pediatr Transplant. 2023 Nov;27(7). DOI: 10.1111/petr.14589. PMID: 36589891. - Validation of a prediction system for risk of kidney allograft failure in pediatric kidney transplant recipients: An international observational study
Hogan J, Divard G, Aubert O, et al. Am J
Transplant. 2023 Oct;23(10):1561-1569. DOI: 10.1016/j.ajt.2023.07.008. PMID: 36580264. - VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease
Saei H, Morinière V, Heidet L, et al.
iScience. 2023 Jun 17;26(7):107171. DOI: 10.1016/j.isci.2023.107171. PMID: 36579911.
2022
- A slit-diaphragm-associated protein network for dynamic control of renal filtration
Kocylowski, MK ; Aypek, H ; Bildl, W ; Helmstädter, M ; Trachte, P ; Dumoulin, B & al
Nat Commun. 2022. doi:10.1038/s41467-022-33748-1. PMID: 36307401 - Agonists of prostaglandin E₂ receptors as potential first in class treatment for nephronophthisis and related ciliopathies
Garcia, H ; Serafin, AS ; Silbermann, F ; Porée, E ; Viau, A ; Mahaut, C & al
Proc Natl Acad Sci U S A. 2022. doi:10.1073/pnas.2115960119. PMID: 35482924 - Allograft function and muscle mass evolution after kidney transplantation
Gaillard, F ; Ould Rabah, M ; Garcelon, N ; Touam, M ; Neuraz, A ; Legendre, C & al
J Cachexia Sarcopenia Muscle. 2022. doi:10.1002/jcsm.13066. PMID: 36106518 - Atypical severe early-onset nephrotic syndrome: Answers
Berthaud, R ; Heidet, L ; Oualha, M ; Brat, R ; Talmud, D ; Garaix, F & al
Pediatr Nephrol. 2022. doi:10.1007/s00467-022-05537-x. PMID: 35507148 - Bone mineral density and growth changes in patients with distal renal tubular acidosis after two-years treatment with a new alkalizing drug (ADV7103)
Bertholet-Thomas, A ; Manso-Silván, MA ; Navas-Serrano, V ; Guittet, C ; Joukoff, S ; Bacchetta, J & al
Nefrologia (Engl Ed). 2022. doi:10.1016/j.nefroe.2022.02.012. PMID: 36529656 - Definition, diagnosis and clinical management of non-obstructive kidney dysplasia: a consensus statement by the ERKNet Working Group on Kidney Malformations
Kohl, S ; Avni, FE ; Boor, P ; Capone, V ; Clapp, WL ; De Palma, D & al
Nephrol Dial Transplant. 2022. doi:10.1093/ndt/gfac207. PMID: 35772019 - Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice
Knoers, N ; Antignac, C ; Bergmann, C ; Dahan, K ; Giglio, S ; Heidet, L & al
Nephrol Dial Transplant. 2022. doi:10.1093/ndt/gfab218. PMID: 34264297 - Improved growth of a child with primary distal renal tubular acidosis after switching from a conventional alkalizing treatment to a new prolonged-release formulation containing potassium citrate and potassium bicarbonate: lessons for the clinical nephrologist
Boyer, O ; Manso-Silván, MA ; Joukoff, S ; Berthaud, R ; Guittet, C
J Nephrol. 2022. doi:10.1007/s40620-022-01306-z. PMID: 35357683 - Managing the Nutritional Requirements of the Pediatric End-Stage Kidney Disease Graduate
Nelms, CL ; Shroff, R ; Boyer, O ; Topaloglu, R
Adv Chronic Kidney Dis. 2022. doi:10.1053/j.ackd.2022.04.004. PMID: 36084975 - Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy: Novel Variants of MAFB Gene and Literature Review
Drovandi, S ; Lugani, F ; Boyer, O ; La Porta, E ; Giordano, P ; Hummel, A & al
J Clin Med. 2022. doi:10.3390/jcm11154423. PMID: 35956038 - National survey of prevention and management of CMV infection in pediatric kidney transplantation in comparison to clinical practice guidelines
Madden, I ; Baudouin, V ; Charbit, M ; Ranchin, B ; Roussey, G ; Novo, R & al
Front Pediatr. 2022. doi:10.3389/fped.2022.1057352. PMID: 36589153 - Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency
Drovandi, S ; Lipska-Ziętkiewicz, BS ; Ozaltin, F ; Emma, F ; Gulhan, B ; Boyer, O & al
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Trautmann, A ; Vivarelli, M ; Samuel, S ; Gipson, D ; Sinha, A ; Schaefer, F & al
Pediatr Nephrol. 2020. doi:10.1007/s00467-020-04519-1. PMID: 32382828 - Kidney Transplant Outcomes in Patients With Adenine Phosphoribosyltransferase Deficiency
Runolfsdottir, HL ; Palsson, R ; Agustsdottir, IMS ; Indridason, OS ; Li, J ; Dao, M & al
Transplantation. 2020. doi:10.1097/TP.0000000000003088. PMID: 31880754 - Long-term outcome of methylmalonic aciduria after kidney, liver, or combined liver-kidney transplantation: The French experience
Brassier, A ; Krug, P ; Lacaille, F ; Pontoizeau, C ; Krid, S ; Sissaoui, S & al
J Inherit Metab Dis. 2020. doi:10.1002/jimd.12174. PMID: 31525265 - Low incidence of SARS-CoV-2, risk factors of mortality and the course of illness in the French national cohort of dialysis patients
Couchoud, C ; Bayer, F ; Ayav, C ; Béchade, C ; Brunet, P ; Chantrel, F & al
Kidney Int. 2020. doi:10.1016/j.kint.2020.07.042. PMID: 32858081 - Malaria, Collapsing Glomerulopathy, and Focal and Segmental Glomerulosclerosis
Amoura, A ; Moktefi, A ; Halfon, M ; Karras, A ; Rafat, C ; Gibier, JB & al
Clin J Am Soc Nephrol. 2020. doi:10.2215/CJN.00590120. PMID: 32444394 - Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disorders
Pontoizeau, C ; Roda, C ; Arnoux, JB ; Vignolo-Diard, P ; Brassier, A ; Habarou, F & al
Mol Genet Metab. 2020. doi:10.1016/j.ymgme.2020.03.003. PMID: 32273051 - Paternity in male kidney transplant recipients: a French national survey, the PATeRNAL study
Boyer, A ; Lobbedez, T ; Ouethrani, M ; Thuillier Lecouf, A ; Bouvier, N ; Châtelet, V & al
BMC Nephrol. 2020. doi:10.1186/s12882-020-02115-x. PMID: 33198659 - Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis
Balogh, E ; Chandler, JC ; Varga, M ; Tahoun, M ; Menyhárd, DK ; Schay, G & al
Proc Natl Acad Sci U S A. 2020. doi:10.1073/pnas.2002328117. PMID: 32554502 - Rationale and study protocol of ACQUIRE, a prospective, observational study measuring quality of life, treatment preference and treatment satisfaction of autosomal dominant polycystic kidney disease (ADPKD) patients in Europe
Joly, D ; Quinn, J ; Mokiou, S ; O’Reilly, K ; Sánchez-Covisa, J ; Wang-Silvanto, J & al
BMC Nephrol. 2020. doi:10.1186/s12882-020-01927-1. PMID: 32709218 - Red Blood Cell AE1/Band 3 Transports in Dominant Distal Renal Tubular Acidosis Patients
Bertocchio, JP ; Genetet, S ; Da Costa, L ; Walsh, SB ; Knebelmann, B ; Galimand, J & al
Kidney Int Rep. 2020. doi:10.1016/j.ekir.2019.12.020. PMID: 32154456 - Response to First Course of Intensified Immunosuppression in Genetically Stratified Steroid Resistant Nephrotic Syndrome
Mason, AE ; Sen, ES ; Bierzynska, A ; Colby, E ; Afzal, M ; Dorval, G & al
Clin J Am Soc Nephrol. 2020. doi:10.2215/CJN.13371019. PMID: 32317330 - Results in the ESPN/ERA-EDTA Registry suggest disparities in access to kidney transplantation but little variation in graft survival of children across Europe
Bonthuis, M ; Cuperus, L ; Chesnaye, NC ; Akman, S ; Melgar, AA ; Baiko, S & al
Kidney Int. 2020. doi:10.1016/j.kint.2020.03.029. PMID: 32709294 - Risk factors for hydroxychloroquine retinopathy in systemic lupus erythematosus: a case-control study with hydroxychloroquine blood-level analysis
Lenfant, T ; Salah, S ; Leroux, G ; Bousquet, E ; Le Guern, V ; Chasset, F & al
Rheumatology (Oxford). 2020. doi:10.1093/rheumatology/keaa157. PMID: 32442312 - School level of children carrying a HNF1B variant or a deletion
Laliève, F ; Decramer, S ; Heidet, L ; Baudouin, V ; Lahoche, A ; Llanas, B & al
Eur J Hum Genet. 2020. doi:10.1038/s41431-019-0490-6. PMID: 31481685 - Severe Acute Kidney Injury in Patients with COVID-19 and Acute Respiratory Distress Syndrome
Chaibi, K ; Dao, M ; Pham, T ; Gumucio-Sanguino, VD ; Di Paolo, FA ; Pavot, A & al
Am J Respir Crit Care Med. 2020. doi:10.1164/rccm.202005-1524LE. PMID: 32866028 - Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD)
Burgmaier, K ; Ariceta, G ; Bald, M ; Buescher, AK ; Burgmaier, M ; Erger, F & al
Sci Rep. 2020. doi:10.1038/s41598-020-71956-1. PMID: 32994492 - Sodium retention by uPA-plasmin-ENaC in nephrotic syndrome-Authors reply
Hinrichs, GR ; Weyer, K ; Friis, UG ; Svenningsen, P ; Lund, IK ; Nielsen, R & al
Acta Physiol (Oxf). 2020. doi:10.1111/apha.13432. PMID: 31845496 - The « salt and pepper » pattern on renal ultrasound in a group of children with molecular-proven diagnosis of ciliopathy-related renal diseases
Iorio, P ; Heidet, L ; Rutten, C ; Garcelon, N ; Audrézet, MP ; Morinière, V & al
Pediatr Nephrol. 2020. doi:10.1007/s00467-020-04480-z. PMID: 32040628 - The ANTENATAL multicentre study to predict postnatal renal outcome in fetuses with posterior urethral valves: objectives and design
Buffin-Meyer, B ; Klein, J ; van der Zanden, LFM ; Levtchenko, E ; Moulos, P ; Lounis, N & al
Clin Kidney J. 2020. doi:10.1093/ckj/sfz107. PMID: 32699617 - The Case: Atrophic kidney and ocular abnormalities
Gendreau, S ; Servais, A ; Cohen, C
Kidney Int. 2020. doi:10.1016/j.kint.2020.04.028. PMID: 32998802 - The genetics of steroid-resistant nephrotic syndrome in adults
Boyer, O ; Dorval, G ; Servais, A
Nephrol Dial Transplant. 2020. doi:10.1093/ndt/gfz257. PMID: 32040156 - The genetics of steroid-resistant nephrotic syndrome in children
Dorval, G ; Servais, A ; Boyer, O
Nephrol Dial Transplant. 2020. doi:10.1093/ndt/gfaa221. PMID: 33180925 - The use of fetal MRI for renal and urogenital tract anomalies
Chalouhi, GE ; Millischer, AÉ ; Mahallati, H ; Siauve, N ; Melbourne, A ; Grevent, D & al
Prenat Diagn. 2020. doi:10.1002/pd.5610. PMID: 31736096 - Transcriptional Changes in Kidney Allografts with Histology of Antibody-Mediated Rejection without Anti-HLA Donor-Specific Antibodies
Callemeyn, J ; Lerut, E ; de Loor, H ; Arijs, I ; Thaunat, O ; Koenig, A & al
J Am Soc Nephrol. 2020. doi:10.1681/ASN.2020030306. PMID: 32641395 - Treatment and long-term outcome in primary nephrogenic diabetes insipidus
Lopez-Garcia, SC ; Downie, ML ; Kim, JS ; Boyer, O ; Walsh, SB ; Nijenhuis, T & al
Nephrol Dial Transplant. 2020. doi:10.1093/ndt/gfaa243. PMID: 33367818 - Treatment impact on COVID-19 evolution in hemodialysis patients
Chawki, S ; Buchard, A ; Sakhi, H ; Dardim, K ; El Sakhawi, K ; Chawki, M & al
Kidney Int. 2020. doi:10.1016/j.kint.2020.07.010. PMID: 32750459 - Urinary Protein Biomarker Panel for the Diagnosis of Antibody-Mediated Rejection in Kidney Transplant Recipients
Mertens, I ; Willems, H ; Van Loon, E ; Schildermans, K ; Boonen, K ; Baggerman, G & al
Kidney Int Rep. 2020. doi:10.1016/j.ekir.2020.06.018. PMID: 32954069 - Usefulness of morphometric image analysis with Sirius Red to assess interstitial fibrosis after renal transplantation from uncontrolled circulatory death donors
Dao, M ; Pouliquen, C ; Duquesne, A ; Posseme, K ; Mussini, C ; Durrbach, A & al
Sci Rep. 2020. doi:10.1038/s41598-020-63749-3. PMID: 32327683
2019
- ADPedKD: A Global Online Platform on the Management of Children With ADPKD
De Rechter, S ; Bockenhauer, D ; Guay-Woodford, LM ; Liu, I ; Mallett, AJ ; Soliman, NA & al
Kidney Int Rep. 2019. doi:10.1016/j.ekir.2019.05.015. PMID: 31517146 - Adverse events associated with currently used medical treatments for cystinuria and treatment goals: results from a series of 442 patients in France
Prot-Bertoye, C ; Lebbah, S ; Daudon, M ; Tostivint, I ; Jais, JP ; Lillo-Le Louët, A & al
BJU Int. 2019. doi:10.1111/bju.14721. PMID: 30801923 - APOL1 risk genotype in Europe: Data in patients with focal segmental glomerulosclerosis and after renal transplantation
Servais, A ; Gribouval, O ; Gaillard, F ; Antignac, C
Nephrol Ther. 2019. doi:10.1016/j.nephro.2019.02.005. PMID: 30981401 - APOL1 risk genotype in European steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis patients of different African ancestries
Gribouval, O ; Boyer, O ; Knebelmann, B ; Karras, A ; Dantal, J ; Fourrage, C & al
Nephrol Dial Transplant. 2019. doi:10.1093/ndt/gfy176. PMID: 29992269 - Current management of transition of young people affected by rare renal conditions in the ERKNet
Kreuzer, M ; Drube, J ; Prüfe, J ; Schaefer, F ; Pape, L
Eur J Hum Genet. 2019. doi:10.1038/s41431-019-0460-z. PMID: 31363187 - Defects in t <sup>6</sup>A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome
Arrondel, C ; Missoury, S ; Snoek, R ; Patat, J ; Menara, G ; Collinet, B & al
Nat Commun. 2019. doi:10.1038/s41467-019-11951-x. PMID: 31481669 - Early Bayesian Dose Adjustment of Vancomycin Continuous Infusion in Children: a Randomized Controlled Trial
Berthaud, R ; Benaboud, S ; Hirt, D ; Genuini, M ; Oualha, M ; Castelle, M & al
Antimicrob Agents Chemother. 2019. doi:10.1128/AAC.01102-19. PMID: 31591117 - Effects of Hemodiafiltration versus Conventional Hemodialysis in Children with ESKD: The HDF, Heart and Height Study
Shroff, R ; Smith, C ; Ranchin, B ; Bayazit, AK ; Stefanidis, CJ ; Askiti, V & al
J Am Soc Nephrol. 2019. doi:10.1681/ASN.2018100990. PMID: 30846560 - Five-year outcome of children with idiopathic nephrotic syndrome: the NEPHROVIR population-based cohort study
Dossier, C ; Delbet, JD ; Boyer, O ; Daoud, P ; Mesples, B ; Pellegrino, B & al
Pediatr Nephrol. 2019. doi:10.1007/s00467-018-4149-2. PMID: 30552564 - Global Variation of Nutritional Status in Children Undergoing Chronic Peritoneal Dialysis: A Longitudinal Study of the International Pediatric Peritoneal Dialysis Network
Schaefer, F ; Benner, L ; Borzych-Dużałka, D ; Zaritsky, J ; Xu, H ; Rees, L & al
Sci Rep. 2019. doi:10.1038/s41598-018-36975-z. PMID: 30894599 - Impact of hypertensive emergency and rare complement variants on the presentation and outcome of atypical hemolytic uremic syndrome
El Karoui, K ; Boudhabhay, I ; Petitprez, F ; Vieira-Martins, P ; Fakhouri, F ; Zuber, J & al
Haematologica. 2019. doi:10.3324/haematol.2019.216903. PMID: 30890598 - Influenza vaccination among children with idiopathic nephrotic syndrome: an investigation of practices
Klifa, R ; Toubiana, J ; Michel, A ; Biebuyck, N ; Charbit, M ; Heidet, L & al
BMC Nephrol. 2019. doi:10.1186/s12882-019-1240-2. PMID: 30803442 - Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis
Lobry, T ; Miller, R ; Nevo, N ; Rocca, CJ ; Zhang, J ; Catz, SD & al
Kidney Int. 2019. doi:10.1016/j.kint.2019.01.029. PMID: 30928021 - Kidney Transplant Outcomes in Patients with Adenine Phosphoribosyltransferase Deficiency
Runolfsdottir, HL ; Palsson, R ; Agustsdottir, IMS ; Indridason, OS ; Li, J ; Dao, M & al
Transplantation. 2019. doi:10.1097/TP.0000000000003088. PMID: 31880754 - Left lateral retroperitoneoscopic total nephrectomy of a horseshoe kidney in a 3-year-old boy
Lottmann, H ; Pio, L ; Heloury, Y ; Boyer, O ; Aigrain, Y ; Blanc, T
J Pediatr Urol. 2019. doi:10.1016/j.jpurol.2019.07.026. PMID: 31477414 - mTOR inhibitors may benefit kidney transplant recipients with mitochondrial diseases
Johnson, SC ; Martinez, F ; Bitto, A ; Gonzalez, B ; Tazaerslan, C ; Cohen, C & al
Kidney Int. 2019. doi:10.1016/j.kint.2018.08.038. PMID: 30471880 - Nephrotic syndrome and mitochondrial disorders: answers
Bernardor, J ; Faudeux, C ; Chaussenot, A ; Antignac, C ; Goldenberg, A ; Gubler, MC & al
Pediatr Nephrol. 2019. doi:10.1007/s00467-019-04217-7. PMID: 30863911 - Protection of Cystinotic Mice by Kidney-Specific Megalin Ablation Supports an Endocytosis-Based Mechanism for Nephropathic Cystinosis Progression
Janssens, V ; Gaide Chevronnay, HP ; Marie, S ; Vincent, MF ; Van Der Smissen, P ; Nevo, N & al
J Am Soc Nephrol. 2019. doi:10.1681/ASN.2019040371. PMID: 31548351 - Pulmonary hypertension in an adolescent with end-stage renal disease—a diagnostic challenge: Answers
Hogan, J ; Salomon, R ; Krid, S ; Bonnet, D ; Legendre, A
Pediatr Nephrol. 2019. doi:10.1007/s00467-018-3939-x. PMID: 29532236 - Quality of life in adolescents with chronic kidney disease who initiate haemodialysis treatment
Clavé, S ; Tsimaratos, M ; Boucekine, M ; Ranchin, B ; Salomon, R ; Dunand, O & al
BMC Nephrol. 2019. doi:10.1186/s12882-019-1365-3. PMID: 31088395 - Renal tubular dysgenesis and microcolon, a novel association. Report of three cases
Saskin, A ; Alfares, A ; Bernard, C ; Blumenkrantz, M ; Braverman, N ; Gupta, I & al
Eur J Med Genet. 2019. doi:10.1016/j.ejmg.2018.07.024. PMID: 30071301 - Screening for Intracranial Aneurysms in Patients with Autosomal Dominant Polycystic Kidney Disease
Flahault, A ; Joly, D
Clin J Am Soc Nephrol. 2019. doi:10.2215/CJN.02100219. PMID: 31217168 - Social deprivation is associated with poor kidney transplantation outcome in children
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Kidney Int. 2019. doi:10.1016/j.kint.2019.05.011. PMID: 31375259 - TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways
Dorval, G ; Kuzmuk, V ; Gribouval, O ; Welsh, GI ; Bierzynska, A ; Schmitt, A & al
Am J Hum Genet. 2019. doi:10.1016/j.ajhg.2018.12.016. PMID: 30661770 - Treatment and long-term outcome in primary distal renal tubular acidosis
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Nephrol Dial Transplant. 2019. doi:10.1093/ndt/gfy409. PMID: 30773598 - Treatment and outcome of congenital nephrotic syndrome
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Nephrol Dial Transplant. 2019. doi:10.1093/ndt/gfy015. PMID: 29474669 - Uremic Toxin Concentrations are Related to Residual Kidney Function in the Pediatric Hemodialysis Population
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Qu’est ce que la transition enfant-adulte ?
La transition correspond à la période de passage d’une prise en charge pédiatrique vers une prise en charge adulte pour de jeunes patients atteints de pathologies chroniques. Ce processus doit être bien organisé et structuré afin d’éviter le risque de rupture du suivi médical et réduire celui des complications de la maladie chronique. Pour que la transition se passe dans les meilleurs conditions possibles, le centre a pour objectif :
- d’Organiser la transition
- d’Encourager la pluridisciplinarité de la prise en charge
- d’Assurer la continuité des soins
- de Rendre l’adolescent acteur de sa transition
Services et outils disponibles
Programme pour l’optimisation de la prise en charge des patients atteints de maladies rénales (chroniques) ou transplantés rénaux suivis en pédiatrie et arrivant à l’âge adulte.
Ce programme complet a été mis en place dans le cadre d’un groupe de travail coordonnée par le Dr Robert Novo (Lille) et le Dr Sandrine Lemoine (Lyon). Il vise à optimiser la prise en charge des patients lors de la période de transition et de transfert vers les services d’adultes. Il est composé de plusieurs documents que vous pouvez télécharger et utiliser librement.
Programme et recommandations : optimisation de la prise en charge
Le programme «A vos marques, prêts, partez» est un programme structuré adaptable à chaque spécificité.
Celui-ci aide les jeunes à acquérir les compétences et les connaissances nécessaires pour gérer leurs soins avec sérénité dans les services pédiatriques et les services pour adultes.
Plaquette d'information "Vers les soins adultes"
La plaquette d’information permet de répondre aux quelques questions que se pose le jeune patient sur la transition et le transfert (1ère consultation).
>>Télécharger la plaquette d’information « Vers les soins adultes »
Questionnaires patients
- Questionnaire 1 « A vos marques » : Il propose une série de questions structurées permet d’établir les objectifs à atteindre pour un passage réussi dans le service pour adultes (2ème consultation).
>>Télécharger le questionnaire « A vos marques »
- Questionnaire 2 « Prêt » : Il couvre les sujets plus en profondeur. il permet de surveiller les progrès réalisés et identifier les difficultés (3ème consultation).
>>Télécharger le questionnaire « Prêt »
- Questionnaire 3 « Partez » : Il permet de mettre en évidence les objectifs et les difficultés qui persistent afin de préparer au mieux le transfert. (4ème consultation).
Questionnaire parents/tuteurs
Ce questionnaire destinés aux parents/tuteurs permet de faire le point sur la place qu’ils occupent auprès de leur enfant (4ème consultation).
Document de suivi médecin
Ce document est un outil de suivi permettant de noter les informations recueillies auprès du jeune patient et assure le suivi du processus de transition.
Fiches de liaison médecins
Les fiches de liaison permettent d’indiquer les informations sur le patient et sur la période souhaitée pour une première consultation avec le médecin référent adulte.
Questionnaire patient après le transfert
Environ un an après le transfert, il est proposé de réaliser une enquête afin d’évaluer le passage du service de pédiatrie au service des adultes.
>>Télécharger le questionnaire d’enquête sur le transfert en service d’adultes
La Suite : l’espace transition adolescents-jeunes adultes de l’hôpital Necker
Inauguré en septembre 2016, cet espace unique en France a vocation à accompagner les adolescents-jeunes adultes suivis à Necker pour des maladies rares ou chroniques, lors de leur sortie des services de pédiatrie pour poursuivre leur prise en charge vers les hôpitaux pour adultes.
>>En savoir plus sur l’espace transition de Necker
NOA : l’application pour devenir autonome avec sa maladie
Cette application a été créée par des professionnels et des adolecents suivis à Necker. Elle facilite une prise en charge globale de sa santé au quotidien et aide à devenir autonome. On y trouve aussi toutes les informations nécessaires pour préparer son transfert vers un hôpital d’adulte. L’application NOA sera disponible fin octobre.
Informations aux patients et familles
- Reins, notions de base
- Greffe rénale
- Hémodialyse
- Rein unique
- Charte de fonctionnement des réunions de concertation pluridisciplinaire (RCP)
- Fiche diététique – Néphroprotection
Source : MARHEA
- Association pour l’information et la recherche sur les maladies rénales génétiques (AIRG-France)
- Association Vaincre les Maladies Lysosomales (VML)
- Association du syndrome de Lowe
- Association française du diabète insipide (AFDI)
- Association Polykystose France (APKF)
- Association sclérose tubéreuse de Bourneville (ASTB)
- Association GitelBart
- FEDERG
- ePAG ERKnet
Coordonnées du CRMR
Hôpital universitaire Necker-Enfants malades
> Service de néphrologie pédiatrique
> Service de néphrologie-dialyse adulte
149 rue de Sèvres
75743 PARIS Cedex 15
> Livret d’accueil pédiatrique
> Livret d’accueil – patients adultes
À Necker, le centre de référence des maladies rénales héréditaires de l’enfant et de l’adulte (MARHEA) c’est …
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patients suivis au moins une fois par an*
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consultations médicales*
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patients en hospitalisation de jour*
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patients en hospitalisation complète*
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programme d’éducation thérapeutique autorisé*
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patients formés à l’éducation thérapeutique*
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projets de recherche en cours*
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cours dispensés à l'université*
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publications*
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actes de téléconsultation*
* données pour l’année 2022
