Hereditary kidney diseases in children and adults (MARHEA)

French national reference center for hereditary kidney diseases in children and adults (MARHEA)

Rare kidney diseases most often have a genetic origin. The diagnosis of these diseases is confirmed by analysis of the responsible genes.

The mission of the rare diseases center MARHEA is to take charge, in all its different aspects, of rare renal pathologies:

  • in pediatric nephrology departments in Paris: Necker-Enfants malades hospital, Robert-Debré hospital, Trousseau hospital,
  • in genetics departments of Necker-Enfants malades hospital and Georges-Pompidou European hospital,
  • in adult nephrology departments of Necker-Enfants malades hospital and Tenon hospital, in close collaboration with competence centers throughout France.

This reference center is affiliated with the ORKID rare diseases healthcare network and the ERKNet European reference network (ERN)

Medical
team

Laurence Heidet

Head of the reference center
Dr Laurence Heidet

MD, PhD

Pr remi Salomon

Pediatric nephrologist
Pr Rémi Salomon
MD, PhD

Pr Knebelmann

Adult nephrologist
Pr Bertrand Knebelmann

MD, PhD

Contact us
 

For a child :
Phone. +33 (0)1 44 49 44 67

Doctolib : prenez rendez-vous en ligne

 

 

For an adult patient :
Phone. +33 (0)1 44 49 54 16

Doctolib : prenez rendez-vous en ligne

 

 

> Send an email

In case of emergency

  • Severe developmental abnormalities of the kidney and urinary tract
  • Hereditary amyloidosis
  • Hereditary cystic kidney diseases
  • Hereditary glomerular diseases
  • Metabolic diseases with renal impairment, including metabolic stones
  • Hereditary tubulopathies
  • Atypical hemolytic and uremic syndrome
  • Idiopathic nephrotic syndrome
  • Hereditary tubulointerstitial kidney diseases
  • Chronic kidney disease in children
En savoir +

Pediatic nephrology

Laurence Heidet

Pediatric nephrologist
Dr Laurence Heidet
MD, PhD

Pr remi Salomon

Pediatric nephrologist
Pr Rémi Salomon
MD, PhD

Pr Olivia Gillion Boyer, néphrologue pédiatre

Pediatric nephrologist
Pr Olivia Gillion Boyer
MD, PhD

Laurene Dehoux MAT

Pediatric nephrologist
Dr Laurène Dehoux
MD

Marina charbit MAT

Pediatric nephrologist
Dr Marina Charbit
MD, PhD

Nathalie Biebuyck-Gouge

Pediatric nephrologist
Dr Nathalie Biebuyck-Gouge
MD

Corinne Antignac

Geneticist
Pr Corinne Antignac
MD, PhD

Project manager for the ORKID sector
Lorna Rouhaud

Adult nephrology

Pr Knebelmann

Adult nephrologist
Pr Bertrand Knebelmann
MD, PhD

Aude Servais Service Néphrologie Hôpital Necker à Paris.Avril 2016

Adult nephrologist
Dr Aude Servais
MD, PhD

Educational pathways for children / adolescents with chronic renal failure: from diagnosis to therapy

Research

Diagnostic announcement of a renal abnormality detected in antenatal (ADARAN)

Establishment of two RADICO cohorts (ECYSCO: cystinosis; EURBIO-ALPORT: Alport syndrome)

Identification of new genes involved in monogenic kidney diseases

Education

Interuniversity diploma in pediatric nephrology
Paris university, Nice university, Lyon I university and Montpellier university

Logo Université de Paris

2021

The genetics of steroid-resistant nephrotic syndrome in adults.
Olivia Boyer, Guillaume Dorval, Aude Servais
Nephrol Dial Transplant, 2021 Aug 27, PMID: 32040156 DOI: 10.1093/ndt/gfz257

A diagnostic dilemma in a boy with lupus and dyspnea: Answers.
Guillaume Dorval, Alice Hadchouel, Nathalie Biebuyck-Gougé, Henri Giniès, Marion Rabant, Laureline Berteloot, Romain Berthaud, Marina Avramescu, Brigitte Bader-Meunier, Olivia Boyer
Pediatr Nephrol, 2021 Apr, PMID: 32681275 DOI: 10.1007/s00467-020-04698-x

A diagnostic dilemma in a boy with lupus and dyspnea: Questions.
Guillaume Dorval, Alice Hadchouel, Nathalie Biebuyck-Gougé, Henri Giniès, Marion Rabant, Laureline Berteloot, Romain Berthaud, Marina Avramescu, Brigitte Bader-Meunier, Olivia Boyer
Pediatr Nephrol, 2021 Apr, PMID: 32681276 DOI: 10.1007/s00467-020-04691-4

Cystinuria: clinical practice recommendation.
Aude Servais, Kay Thomas, Luca Dello Strologo, John A Sayer, Soumeya Bekri, Aurelia Bertholet-Thomas, Matthew Bultitude, Giovanna Capolongo, Rimante Cerkauskiene et al.
Kidney Int, 2021 Jan, PMID: 32918941 DOI: 10.1016/j.kint.2020.06.035

Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia.
Penelope Jordan, Christelle Arrondel, Bettina Bessières, Aude Tessier, Tania Attié-Bitach, Sarah Guterman, Vincent Morinière, Corinne Antignac, Sophie Saunier, Marie-Claire Gubler, Laurence Heidet
Kidney Int, 2021 Feb, PMID: 33129895 DOI: 10.1016/j.kint.2020.09.029

Long-term kidney and liver outcome in 50 children with autosomal recessive polycystic kidney disease.
Guillaume Dorval, Olivia Boyer, Anne Couderc, Jean-Daniel Delbet, Laurence Heidet, Dominique Debray, Pauline Krug, Muriel Girard, Brigitte Llanas, Marina Charbit, Saoussen Krid et al.
Pediatr Nephrol, 2021 May, PMID: 33165639 DOI: 10.1007/s00467-020-04808-9

A very uncommon cause of acute kidney injury in infancy.
Guillaume Dorval, Estelle Balducci, Sophie Kaltenbach, Maryline Chomton, Saoussen Krid, Marion Rabant, Florence Porcheret, Jean-Paul Duong Van Huyen, Philippe Eckart, Guillaume Mortamet
Kidney Int, 2021 Oct, PMID: 34556303 DOI: 10.1016/j.kint.2021.06.024

Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes.
Guillaume Dorval, Cécile Jeanpierre, Vincent Morinière, Carole Tournant, Bettina Bessières, Tania Attié-Bittach, Jeanne Amiel, Emmanuel Spaggari, Yves Ville, Elodie Merieau, Marie-Claire Gubler, Sophie Saunier, Laurence Heidet
Pediatr Nephrol, 2021 Aug, PMID: 33580824 DOI: 10.1007/s00467-021-04953-9

A rare cause of transitory hematuria and urinary tract dysfunction in children: Questions.
Guillaume Dorval, Laureline Berteloot, Luca Pio, Olivia Boyer, Thomas Blanc
Pediatr Nephrol, 2021 Jul, PMID: 33730286 DOI: 10.1007/s00467-021-04994-0

A rare cause of transitory hematuria and urinary tract dysfunction in children: Answers.
Guillaume Dorval, Laureline Berteloot, Luca Pio, Olivia Boyer, Thomas Blanc
Pediatr Nephrol, 2021 Jul, PMID: 33768327 DOI: 10.1007/s00467-021-05006-x

Neurological involvement in monogenic podocytopathies.
Olivia Boyer, Géraldine Mollet, Guillaume Dorval
Pediatr Nephrol, 2021 Nov, PMID: 33791874 DOI: 10.1007/s00467-020-04903-x

2020

Long-term outcome of methylmalonic aciduria after kidney, liver, or combined liver-kidney transplantation: The French experience.
Anaïs Brassier, Pauline Krug, Florence Lacaille, Clément Pontoizeau, Saoussen Krid, Samira Sissaoui, Aude Servais, Jean-Baptiste Arnoux, Christophe Legendre, Marina Charbit, Anne Scemla, Claire Francoz, Jean-François Benoist, Manuel Schiff, Fanny Mochel, Guy Touati, Pierre Broué, Aline Cano, Marine Tardieu, Stefania Querciagrossa, David Grévent, Olivia Boyer, Laurent Dupic, Mehdi Oualha, Muriel Girard, Yves Aigrain, Dominique Debray, Carmen Capito, Chris Ottolenghi, Rémi Salomon, Christophe Chardot, Pascale de Lonlay
J Inherit Metab Dis, 2020 Mar, PMID: 31525265 DOI: 10.1002/jimd.12174

Long-Term Follow-up of a Child With Putative Remethylation Disorder Who Presented With Severe Anemia as a Neonate.
Zühre Kaya, Manuel Schiff, Jean-François Benoist
J Pediatr Hematol Oncol, 2020 May, PMID: 31789780 DOI: 10.1097/MPH.0000000000001689

Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome.
Alessandra Pennisi, Bruno Maranda, Jean-François Benoist, Véronique Baudouin, Odile Rigal, Samia Pichard, René Santer, Francesca Romana Lepri, Antonio Novelli, Hélène Ogier de Baulny, Carlo Dionisi-Vici, Manuel Schiff
J Inherit Metab Dis, 2020 May, PMID: 31816104 DOI: 10.1002/jimd.12203

Administration of gamma-hydroxybutyrate instead of beta-hydroxybutyrate to a liver transplant recipient suffering from propionic acidemia and cardiomyopathy: A case report on a medication prescribing error.
Caroline Tuchmann-Durand, Eloise Thevenet, Florence Moulin, Fabrice Lesage, Juliette Bouchereau, Mehdi Oualha, Diala Khraiche, Anaïs Brassier, Camille Wicker, Stéphanie Gobin-Limballe, Jean-Baptiste Arnoux, Florence Lacaille, Clotilde Wicart, Bruno Coat, Joel Schlattler, Salvatore Cisternino, Sylvain Renolleau, Philippe-Henri Secretan, Pascale De Lonlay
JIMD Rep, 2020 Jan 3, PMID: 32071836 PMCID: PMC7012734 DOI: 10.1002/jmd2.12090

Nitrous oxide and vitamin B12 in sickle cell disease: Not a laughing situation.
Camille Desprairies, Apolline Imbard, Bérengère Koehl, Mathie Lorrot, Jean Gaschignard, Julie Sommet, Samia Pichard, Laurent Holvoet, Albert Faye, Malika Benkerrou, Jean-François Benoist, Manuel Schiff
Mol Genet Metab Rep, 2020 Mar 17, PMID: 32195121 PMCID: PMC7078522 DOI: 10.1016/j.ymgmr.2020.100579

Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disorders.
Clément Pontoizeau, Célina Roda, Jean-Baptiste Arnoux, Patricia Vignolo-Diard, Anais Brassier, Florence Habarou, Valérie Barbier, Coraline Grisel, Marie-Thérèse Abi-Warde, Nathalie Boddaert, Alice Kuster, Aude Servais, Anna Kaminska, Carole Hennequin, Laurent Dupic, Fabrice Lesage, Guy Touati, Vassili Valayannopoulos, Bernadette Chadefaux-Vekemans, Mehdi Oualha, Monika Eisermann, Chris Ottolenghi, Pascale de Lonlay
Mol Genet Metab, 2020 Jun, PMID: 32273051 DOI: 10.1016/j.ymgme.2020.03.003

Infectious and digestive complications in glycogen storage disease type Ib: Study of a French cohort.
Camille Wicker, Célina Roda, Ariane Perry, Jean Baptiste Arnoux, Anais Brassier, Martin Castelle, Aude Servais, Jean Donadieu, Juliette Bouchereau, Bénédicte Pigneur, Philippe Labrune, Frank M Ruemmele, Pascale de Lonlay
Mol Genet Metab Rep, 2020 Apr 9, PMID: 32300528 PMCID: PMC7152669 DOI: 10.1016/j.ymgmr.2020.100581

[An acidosis not so basic].
Bertrand Lefrère, Emmanuelle Ecochard-Dugelay, Alexis Mosca, Jean-François Benoist, Jean-Pierre Hugot, Apolline Imbard
Ann Biol Clin (Paris), 2020 Aug 1, PMID: 32753366 DOI: 10.1684/abc.2020.1573

[Biochemical diagnosis of inherited metabolical diseases: metabolic profiles and difficulties for validating methods].
Jean-François Benoist, Roselyne Garnotel, Cécile Acquaviva Bourdain
Ann Biol Clin (Paris), 2020 Oct 1, PMID: 32933895 DOI: 10.1684/abc.2020.1584

Inherited Disorders of Lysine Metabolism: A Review.
Juliette Bouchereau, Manuel Schiff
J Nutr, 2020 Oct 1, PMID: 33000154 DOI: 10.1093/jn/nxaa112

Long term outcome of MPI-CDG patients on D-mannose therapy.
Muriel Girard, Claire Douillard, Dominique Debray, Florence Lacaille, Manuel Schiff, Sandrine Vuillaumier-Barrot, Thierry Dupré, Monique Fabre, Lena Damaj, Alice Kuster, Stéphanie Torre, Karine Mention, Valérie McLin, Dries Dobbelaere, Delphine Borgel, Eric Bauchard, Nathalie Seta, Arnaud Bruneel, Pascale De Lonlay
J Inherit Metab Dis, 2020 Nov, PMID: 33098580 DOI: 10.1002/jimd.12289

Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?
Alessandra Pennisi, Agnès Rötig, Charles-Joris Roux, Raphaël Lévy, Marco Henneke, Jutta Gärtner, Pelin Teke Kisa, Fatma Ceren Sarioglu, Uluç Yiş, Laura L Konczal, Deepika D Burkardt, Sulin Wu, Pauline Gaignard, Claude Besmond, Laurence Hubert, Marlène Rio, Giulia Barcia, Arnold Munnich, Nathalie Boddaert, Manuel Schiff
J Med Genet, 2020 Nov 16, PMID: 33199448 DOI: 10.1136/jmedgenet-2020-107367

Central nervous system complications in adult cystinosis patients.
Aude Servais, Ana Saitovitch, Aurélie Hummel, Jennifer Boisgontier, Anne Scemla, Rebecca Sberro-Soussan, Renaud Snanoudj, Hervé Lemaitre, Christophe Legendre, Clément Pontoizeau, Corinne Antignac, Dany Anglicheau, Benoît Funalot, Nathalie Boddaert
J Inherit Metab Dis, 2020 Mar, PMID: 31444911 DOI: 10.1002/jimd.12164

Bi-allelic mutations in renin-angiotensin system genes, associated with renal tubular dysgenesis, can also present as a progressive chronic kidney disease.
Marc Fila, Vincent Morinière, Philippe Eckart, Joelle Terzic, Marie-Claire Gubler, Corinne Antignac, Laurence Heidet
Pediatr Nephrol, 2020 Jun, PMID: 32198635 DOI: 10.1007/s00467-020-04524-4

Congenital nephrotic syndrome: is early aggressive treatment needed?-No.
Olivia Boyer, Sandra Bérody
Pediatr Nephrol, 2020 Oct, PMID: 32462257 DOI: 10.1007/s00467-020-04556-w

Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet-ESPN inherited glomerulopathy working group.
Beata Stefania, Lipska-Ziętkiewicz, Fatih Ozaltin, Tuula Hölttä, Detlef Bockenhauer, Sandra Bérody, Elena Levtchenko, Marina Vivarelli, Hazel Webb, Dieter Haffner, Franz Schaefer & Olivia Boyer
Eur J Hum Genet, 2020 Oct, PMID: 32467597 PMCID: PMC7608398 DOI: 10.1038/s41431-020-0642-8

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.
Dominique Joly, Jennifer Quinn, Stella Mokiou, Karl O’Reilly, Joaquín Sánchez-Covisa, Jing Wang-Silvanto & Helen Doll
BMC Nephrol, 2020 Jul 24, PMID: 32709218 PMCID: PMC7379359 DOI: 10.1186/s12882-020-01927-1

Association between 25(OH) vitamin D and graft survival in renal transplanted children.
Mélodie Mosca, Mathilde Lion-Lambert, Frank Bienaimé, Romain Berthaud, Guillaume Dorval, Nicolas Garcelon, Laurène Dehoux, Saoussen Krid, Marina Charbit, Marion Rabant, Patrick Niaudet, Rémi Salomon, Justine Bacchetta, Olivia Boyer
Pediatr Transplant, 2020 Nov, PMID: 32845557 DOI: 10.1111/petr.13809

The genetics of steroid-resistant nephrotic syndrome in children.
Guillaume Dorval, Aude Servais, Olivia Boyer
Nephrol Dial Transplant, 2020 Nov 12, PMID: 33180925 DOI: 10.1093/ndt/gfaa221

2019

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 Oct 7, PMID: 31591117 PMCID: PMC6879247 DOI: 10.1128/AAC.01102-19

Use of Highly Individualized Complement Blockade Has Revolutionized Clinical Outcomes after Kidney Transplantation and Renal Epidemiology of Atypical Hemolytic Uremic Syndrome.
Zuber, J ; Frimat, M ; Caillard, S ; Kamar, N ; Gatault, P ; Petitprez, F & al
J Am Soc Nephrol, 2019 Dec, PMID: 31575699 PMCID: PMC6900783 DOI: 10.1681/ASN.2019040331

Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy.
Méjécase, C ; Hummel, A ; Mohand-Saïd, S ; Andrieu, C ; El Shamieh, S ; Antonio, A & al
Clin Genet, 2019 Feb, PMID: 30267408 DOI: 10.1111/cge.13453

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 Apr, PMID: 30552564 DOI: 10.1007/s00467-018-4149-2

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 Jan, PMID: 29532236 DOI: 10.1007/s00467-018-3939-x

Pulmonary hypertension in an adolescent with end-stage-renal disease-a diagnostic challenge: Questions.
Hogan, J ; Salomon, R ; Krid, S ; Bonnet, D ; Legendre, A
Pediatr Nephrol, 2019 Jan, PMID: 29532234 DOI: 10.1007/s00467-018-3931-5

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 Aug, PMID: 30928021 PMCID: PMC7269416 DOI: 10.1016/j.kint.2019.01.029

Osmoregulation Performance and Kidney Transplant Outcome.
Mazloum, M ; Jouffroy, J ; Brazier, F ; Legendre, C ; Neuraz, A ; Garcelon, N & al
J Am Soc Nephrol, 2019 Jul, PMID: 31217325 PMCID: PMC6622417 DOI: 10.1681/ASN.2018121269

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 Apr, PMID: 30981401 DOI: 10.1016/j.nephro.2019.02.005

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 Nov 1, PMID: 29992269 DOI: 10.1093/ndt/gfy176

Baseline graft status is a critical predictor of kidney graft failure after diarrhoea.
Devresse, A ; Morin, L ; Aulagnon, F ; Taupin, JL ; Scemla, A ; Lanternier, F & al
Nephrol Dial Transplant, 2019 Sep 1, PMID: 30608553 DOI: 10.1093/ndt/gfy386

Early Acute Microvascular Kidney Transplant Rejection in the Absence of Anti-HLA Antibodies Is Associated with Preformed IgG Antibodies against Diverse Glomerular Endothelial Cell Antigens.
Delville, M ; Lamarthée, B ; Pagie, S ; See, SB ; Rabant, M ; Burger, C & al
J Am Soc Nephrol, 2019 Apr, PMID: 30850439 PMCID: PMC6442343 DOI: 10.1681/ASN.2018080868

Screening for Intracranial Aneurysms in Patients with Autosomal Dominant Polycystic Kidney Disease.
Flahault, A ; Joly, D
Clin J Am Soc Nephrol, 2019 Aug 7, PMID: 31217168 PMCID: PMC6682822 DOI: 10.2215/CJN.02100219

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 Feb 25, PMID: 30803442 PMCID: PMC6388483 DOI: 10.1186/s12882-019-1240-2

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 Feb 7, PMID: 30661770 PMCID: PMC6369567 DOI: 10.1016/j.ajhg.2018.12.016

Treatment and outcome of congenital nephrotic syndrome.
Bérody, S ; Heidet, L ; Gribouval, O ; Harambat, J ; Niaudet, P ; Baudouin, V & al
Nephrol Dial Transplant, 2019 Mar 1, PMID: 29474669 DOI: 10.1093/ndt/gfy015

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 May 29, PMID: 31517146 PMCID: PMC6732756 DOI: 10.1016/j.ekir.2019.05.015

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 Dec, PMID: 31363187 PMCID: PMC6871530 DOI: 10.1038/s41431-019-0460-z

Dynamic predictions of long-term kidney graft failure: an information tool promoting patient-centred care.
Fournier, MC ; Foucher, Y ; Blanche, P ; Legendre, C ; Girerd, S ; Ladrière, M & al
Nephrol Dial Transplant, 2019 Nov 1, PMID: 30859193 DOI: 10.1093/ndt/gfz027

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 Mar 20, PMID: 30894599 PMCID: PMC6426856 DOI: 10.1038/s41598-018-36975-z

Vascular access in children requiring maintenance haemodialysis: a consensus document by the European Society for Paediatric Nephrology Dialysis Working Group.
Shroff, R ; Calder, F ; Bakkaloğlu, S ; Nagler, EV ; Stuart, S ; Stronach, L & al
Nephrol Dial Transplant, 2019 Oct 1, PMID: 30859187 DOI: 10.1093/ndt/gfz011

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 Nov, PMID: 30801923 DOI: 10.1111/bju.14721

Defects in t 6 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 Sep 3, PMID: 31481669 PMCID: PMC6722078 DOI: 10.1038/s41467-019-11951-x

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 Apr, PMID: 30846560 PMCID: PMC6442347 DOI: 10.1681/ASN.2018100990

Epitope load identifies kidney transplant recipients at risk of allosensitization following minimization of immunosuppression.
Snanoudj, R ; Kamar, N ; Cassuto, E ; Caillard, S ; Metzger, M ; Merville, P & al
Kidney Int, 2019 Jun, PMID: 30955869 DOI: 10.1016/j.kint.2018.12.029

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 Dec, PMID: 30890598 PMCID: PMC6959192 DOI: 10.3324/haematol.2019.216903

Kidney Transplant Outcomes in Patients with Adenine Phosphoribosyltransferase Deficiency.
Runolfsdottir, HL ; Palsson, R ; Agustsdottir, IMS ; Indridason, OS ; Li, J ; Dao, M & al
Transplantation, 2020 Oct, PMID: 31880754 PMCID: PMC7316615 DOI: 10.1097/TP.0000000000003088

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 Oct, PMID: 31477414 DOI: 10.1016/j.jpurol.2019.07.026

Management of bone disease in cystinosis: Statement from an international conference.
Hohenfellner, K ; Rauch, F ; Ariceta, G ; Awan, A ; Bacchetta, J ; Bergmann, C & al
J Inherit Metab Dis, 2019 Sep, PMID: 31177550 PMCID: PMC7379238 DOI: 10.1002/jimd.12134

Natural killer cell infiltration is discriminative for antibody-mediated rejection and predicts outcome after kidney transplantation.
Yazdani, S ; Callemeyn, J ; Gazut, S ; Lerut, E ; de Loor, H ; Wevers, M & al
Kidney Int, 2019 Jan, PMID: 30396694 DOI: 10.1016/j.kint.2018.08.027

Nephrotic syndrome and mitochondrial disorders: answers.
Bernardor, J ; Faudeux, C ; Chaussenot, A ; Antignac, C ; Goldenberg, A ; Gubler, MC & al
Pediatr Nephrol, 2019 Aug, PMID: 30863911 DOI: 10.1007/s00467-019-04217-7

Nephrotic syndrome and mitochondrial disorders: Questions.
Bernardor, J ; Faudeux, C ; Chaussenot, A ; Antignac, C ; Goldenberg, A ; Gubler, MC & al
Pediatr Nephrol, 2019 Aug, PMID: 30863910 DOI: 10.1007/s00467-019-04216-8

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 Nov, PMID: 31548351 PMCID: PMC6830792 DOI: 10.1681/ASN.2019040371

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 May 14, PMID: 31088395 PMCID: PMC6515621 DOI: 10.1186/s12882-019-1365-3

Social deprivation is associated with poor kidney transplantation outcome in children.
Driollet, B ; Bayer, F ; Chatelet, V ; Macher, MA ; Salomon, R ; Ranchin, B & al
Kidney Int, 2019 Sep, PMID: 31375259 DOI: 10.1016/j.kint.2019.05.011

Temporal virus serological profiling of kidney graft recipients using VirScan.
Isnard, P ; Kula, T ; Avettand Fenoel, V ; Anglicheau, D ; Terzi, F ; Legendre, C & al
Proc Natl Acad Sci U S A, 2019 May 28, PMID: 31085644 PMCID: PMC6561175 DOI: 10.1073/pnas.1821166116

Treatment and long-term outcome in primary distal renal tubular acidosis.
Lopez-Garcia, SC ; Emma, F ; Walsh, SB ; Fila, M ; Hooman, N ; Zaniew, M & al
Nephrol Dial Transplant, 2019 Jun 1, PMID: 30773598 DOI: 10.1093/ndt/gfy409

Urokinase-type plasminogen activator contributes to amiloride-sensitive sodium retention in nephrotic range glomerular proteinuria in mice.
Hinrichs, GR ; Weyer, K ; Friis, UG ; Svenningsen, P ; Lund, IK ; Nielsen, R & al
Acta Physiol (Oxf), 2019 Dec, PMID: 31423748 DOI: 10.1111/apha.13362

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 Feb, PMID: 30471880 PMCID: PMC6389356 DOI: 10.1016/j.kint.2018.08.038

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 Apr, PMID: 30071301 DOI: 10.1016/j.ejmg.2018.07.024

Uremic Toxin Concentrations are Related to Residual Kidney Function in the Pediatric Hemodialysis Population.
Snauwaert, E ; Holvoet, E ; Van Biesen, W ; Raes, A ; Glorieux, G ; Vande Walle, J & al
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What is the child-adult transition ?

Transition is the period of change from pediatric care to adult care for young patients with chronic conditions. This process must be well organized and structured in order to avoid the risk of a break in medical follow-up and reduce the risk of complications of the chronic disease. To ensure that the transition takes place in the best possible conditions, the center’s objective is to :

  • Organize the transition
  • Encourage multidisciplinary care
  • Ensure continuity of care
  • Make the teenager the actor of his transition

Services and tools available

Program for optimizing the care of patients with (chronic) kidney disease or kidney transplant followed in pediatrics and arriving in adulthood.

Visuel-programme-transition MARHEAThis comprehensive program has been set up within the framework of a working group coordinated by Dr Robert Novo (Lille) and Dr Sandrine Lemoine (Lyon). It aims to optimize patient care during the transition and transfer period to adult services. It is composed of several documents that you can download and use freely.

Program and recommendations : optimizing care

The « On your marks, get set, go » program is a structured program adaptable to each specificity.
It helps young people acquire the skills and knowledge they need to manage their care with peace of mind in both pediatric and adult services.

>>Download the « On your marks, get set, go » program (in French)

Information booklet "Towards adult care"

The information booklet can be used to answer a few questions that the young patient has about the transition and the transfer (1st consultation).

>>Download the information booklet « Towards adult care » (in French)

Patient questionnaires

  • Questionnaire 1 « On your marks » : It proposes a series of structured questions to establish the objectives to be reached for a successful transition to adult services (2nd consultation).

>>Download the « On your marks » questionnaire (in French)

  • Questionnaire 2 « Get set » : It covers the topics in greater depth. It allows to monitor progress and identify difficulties (3rd consultation).

>>Download the « Get set » questionnaire (in French)

  • Questionnaire 3 « Go » : It allows to highlight the objectives and the difficulties that persist in order to best prepare the transfer. (4th consultation).

>>Download the « Go » questionnaire (in French)

Parent/Guardian questionnaire

This questionnaire for parents/guardians allows them to take stock of the place they occupy with their child (4th consultation).

>>Download the Parent/Guardian questionnaire (in French)

Physician follow-up document

This document is a follow-up tool to record the information collected from the young patient and monitor the transition process.

>>Download the physician follow-up document (in French)

Physician liaison sheets

The liaison sheets are used to indicate information about the patient and the desired period for a first consultation with the adult referring physician.

>>Download the physician liaison sheets (in French)

Post-transfer patient questionnaire

Approximately one year after the transfer, it is proposed to carry out a survey to evaluate the transition from the pediatric service to the adult service.

>>Download the survey questionnaire on the transfer to adult service (in French)

La Suite : the adolescent-young adult transition area at Necker hospital

la-suite-MARHEAInaugurated in September 2016, this area, the only one of its kind in France, is designed to support teenagers and young adults being treated at Necker for rare or chronic diseases when they are discharged from pediatric wards to continue their care in adult hospitals.

>>Learn more about Necker’s transition area (in French)

 

NOA: the application to become autonomous with one’s disease

This application was created by professionals and teenagers followed at Necker. It facilitates a global care of one’s health on a daily basis and helps to become autonomous. It also provides all the information needed to prepare for transfer to an adult hospital. The NOA application will be available at the end of October.

>>Learn more about the NOA application (in French)

Contact information

Necker-Enfants malades university hospital
> Pediatric nephrology unit
> Adult nephrology-dialysis unit

149 rue de Sèvres
75743 PARIS Cedex 15

> Pediatric welcome booklet
> Adult patients welcome booklet

In Necker, the reference center for hereditary kidney diseases in children and adults (MARHEA) in brief …

0
patients followed at least once a year*
0
medical consultations*
0
day hospitalizations*
0
fully hospitalized patients*
0
authorized therapeutic education program*
0
patients trained in therapeutic education*
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current research projects*
0
university courses*
0
publications*
0
teleconsultation procedures*

* data valid for 2021