Hereditary kidney diseases in children and adults (MARHEA)

Réseau d'information sur les maladies rares de Necker
Réseau d'information sur les maladies rares de Necker

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: Necker-Enfants malades hospital, Robert-Debré hospital, Trousseau hospital, Cavale Blanche hospital (Brest)
  • in genetics departments of Necker-Enfants malades hospital and Georges-Pompidou European hospital,
  • in adult nephrology departments of Necker-Enfants malades hospital, Tenon hospital andCavale Blanche hospital (Brest), in close collaboration with competence centers throughout France.Logo ERN ERKNet

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

bouton calculette Tension artérielle MARHEA anglais
Practical information : molecular genetics. Here you will find the clinical information sheets to attach to the samples sent to the genetics departments of Necker and the HEGP.

Medical
team

Laurence Heidet

Head of the reference center
Dr Laurence Heidet
MD, PhD

Pr remi Salomon

Pediatric nephrologist
Pr Rémi Salomon
MD, PhD

Photo Bertrand Knebelmann

Adult nephrologist
Pr Bertrand
Knebelmann
MD, PhD

Contact us
 

For a child* :
Phone. +33 (0)1 44 49 44 62

*Doctolib is reserved for follow-up consultation requests

For a first consultation request, please submit your request via this online form

Doctolib : prenez rendez-vous en ligne

 

 

For professionals : Request a review

For an adult patient :
(1st consultation and follow-up)
Phone. +33 (0)1 44 49 54 61

Doctolib : prenez rendez-vous en ligne

 

 

> Send an email

In case of emergency

Diseases
  • 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
  • Cystinosis
En savoir +

Necker medical team

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

Photo Bertrand 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

Therapeutic patient education

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

Research and Education

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

Publications

2024

2023

2022

2021

2020

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
Toxins (Basel), 2019 Apr 24, PMID: 31022857 PMCID: PMC6521157 DOI: 10.3390/toxins11040235

Child-Adult transition

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*
0
current research projects*
0
university courses*
0
publications*
0
teleconsultation procedures*

* data valid for 2022

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