Treatment and outcome of congenital nephrotic syndrome.

Disease Progression Female France / epidemiology Humans Incidence Infant Infant, Newborn Male Membrane Proteins / genetics Mutation Nephrectomy / mortality Nephrotic Syndrome / epidemiology Retrospective Studies Survival Rate Treatment Outcome
albumin chronic renal failure nephrotic syndrome quality of life survival analysis

Journal

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
ISSN: 1460-2385
Titre abrégé: Nephrol Dial Transplant
Pays: England
ID NLM: 8706402

Informations de publication

Date de publication:
01 03 2019
Historique:
received: 13 07 2017
accepted: 24 12 2017
pubmed: 24 2 2018
medline: 28 12 2019
entrez: 24 2 2018
Statut: ppublish

Résumé

Recommendations for management of Finnish-type congenital nephrotic syndrome (CNS) followed by many teams include daily albumin infusions, early bilateral nephrectomy, dialysis and transplantation. We aimed to assess the treatment and outcome of patients with CNS in France. We conducted a nationwide retrospective study on 55 consecutive children born between 2000 and 2014 treated for non-infectious CNS. The estimated cumulative incidence of CNS was 0.5/100 000 live births. The underlying defect was biallelic mutations in NPHS1 (36/55, 65%), NPHS2 (5/55, 7%), PLCE1 (1/55, 2%), heterozygous mutation in WT1 (4/55, 7%) and not identified in nine children (16%). Fifty-three patients (96%) received daily albumin infusions from diagnosis (median age 14 days), which were spaced and withdrawn in 10 patients. Twenty children (35%) were managed as outpatients. Thirty-nine patients reached end-stage kidney disease (ESKD) at a median age of 11 months. The overall renal survival was 64% and 45% at 1 and 2 years of age, respectively. Thirteen children died during the study period including four at diagnosis, two of nosocomial catheter-related septic shock, six on dialysis and one after transplantation. The remaining 13 patients were alive with normal renal function at last follow-up [median 32 months (range 9-52)]. Renal and patient survivals were longer in patients with NPHS1 mutations than in other patients. The invasive infection rate was 2.41/patient/year. Our study shows: (i) a survival free from ESKD in two-thirds of patients at 1 year and in one-half at 2 years and (ii) a significant reduction or even a discontinuation of albumin infusions allowing ambulatory care in a subset of patients. These results highlight the need for new therapeutic guidelines for CNS patients.

Sections du résumé

BACKGROUND
Recommendations for management of Finnish-type congenital nephrotic syndrome (CNS) followed by many teams include daily albumin infusions, early bilateral nephrectomy, dialysis and transplantation. We aimed to assess the treatment and outcome of patients with CNS in France.
METHODS
We conducted a nationwide retrospective study on 55 consecutive children born between 2000 and 2014 treated for non-infectious CNS.
RESULTS
The estimated cumulative incidence of CNS was 0.5/100 000 live births. The underlying defect was biallelic mutations in NPHS1 (36/55, 65%), NPHS2 (5/55, 7%), PLCE1 (1/55, 2%), heterozygous mutation in WT1 (4/55, 7%) and not identified in nine children (16%). Fifty-three patients (96%) received daily albumin infusions from diagnosis (median age 14 days), which were spaced and withdrawn in 10 patients. Twenty children (35%) were managed as outpatients. Thirty-nine patients reached end-stage kidney disease (ESKD) at a median age of 11 months. The overall renal survival was 64% and 45% at 1 and 2 years of age, respectively. Thirteen children died during the study period including four at diagnosis, two of nosocomial catheter-related septic shock, six on dialysis and one after transplantation. The remaining 13 patients were alive with normal renal function at last follow-up [median 32 months (range 9-52)]. Renal and patient survivals were longer in patients with NPHS1 mutations than in other patients. The invasive infection rate was 2.41/patient/year.
CONCLUSIONS
Our study shows: (i) a survival free from ESKD in two-thirds of patients at 1 year and in one-half at 2 years and (ii) a significant reduction or even a discontinuation of albumin infusions allowing ambulatory care in a subset of patients. These results highlight the need for new therapeutic guidelines for CNS patients.

Identifiants

DOI: 10.1093/ndt/gfy015 PMID: 29474669
pubmed: 29474669
pii: 4883348
doi: 10.1093/ndt/gfy015
doi:

Substances chimiques

Membrane Proteins 0
nephrin 0

Types de publication

Journal Article Multicenter Study

Langues

eng

Sous-ensembles de citation

IM

Pagination

458-467

Informations de copyright

© The Author(s) 2018. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved.

Auteurs

Sandra Bérody (S)

Hôpital Necker-Enfants malades, Néphrologie pédiatrique, Assistance Publique des Hôpitaux de Paris, Université Paris Descartes-Sorbonne Paris-Cité, Paris, France.

Laurence Heidet (L)

Hôpital Necker-Enfants malades, Néphrologie pédiatrique, Assistance Publique des Hôpitaux de Paris, Université Paris Descartes-Sorbonne Paris-Cité, Paris, France.
Centre de référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), Centre de référence du syndrome néphrotique idiopathique de l'enfant et de l'adulte, Hôpital Necker-Enfants Malades, Paris, France.
Inserm U1163, Imagine Institute, Paris, France.

Olivier Gribouval (O)

Inserm U1163, Imagine Institute, Paris, France.

Jérome Harambat (J)

Centre Hospitalier Universitaire de Bordeaux, Néphrologie pédiatrique, Bordeaux, France.

Patrick Niaudet (P)

Hôpital Necker-Enfants malades, Néphrologie pédiatrique, Assistance Publique des Hôpitaux de Paris, Université Paris Descartes-Sorbonne Paris-Cité, Paris, France.
Centre de référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), Centre de référence du syndrome néphrotique idiopathique de l'enfant et de l'adulte, Hôpital Necker-Enfants Malades, Paris, France.
Inserm U1163, Imagine Institute, Paris, France.

Veronique Baudouin (V)

Centre de référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), Centre de référence du syndrome néphrotique idiopathique de l'enfant et de l'adulte, Hôpital Necker-Enfants Malades, Paris, France.
Hôpital Universitaire Robert Debré, Néphrologie pédiatrique, Paris, France.

Justine Bacchetta (J)

Hôpital Femme Mère Enfants, Néphrologie pédiatrique, Bron, France.

Bernard Boudaillez (B)

Centre Hospitalier Universitaire d'Amiens, Pédiatrie, Amiens, France.

Maud Dehennault (M)

CHRU Jeanne de Flandre, Pédiatrie, Lille, France.

Loïc de Parscau (L)

CHRU de Brest, Pédiatrie, Brest, France.

Olivier Dunand (O)

CHU Felix Guyon, Pédiatrie, Saint-Denis, La Reunion, France.

Hugues Flodrops (H)

CHU GHSR Saint Pierre, Pédiatrie, La Réunion, France.

Marc Fila (M)

Centre Hospitalier Regional Universitaire de Montpellier, Néphrologie pédiatrique, Montpellier, France.

Arnaud Garnier (A)

Centre Hospitalier Universitaire de Toulouse, Néphrologie pédiatrique, Toulouse, France.

Ferielle Louillet (F)

Centre Hospitalier Universitaire de Rouen, Pédiatrie, Rouen, France.

Marie-Alice Macher (MA)

Hôpital Universitaire Robert Debré, Néphrologie pédiatrique, Paris, France.

Adrien May (A)

Centre Hospitalier Sud Francilien, Pédiatrie, Corbeil-Essonnes, France.

Elodie Merieau (E)

CHU Clocheville, Pédiatrie, Tours, France.

Françoise Monceaux (F)

Centre Hospitalier Regional d'Orléans, Pédiatrie, Orleans, France.

Christine Pietrement (C)

American Memorial Hospital, Néphrologie pédiatrique, Reims, France.

Caroline Rousset-Rouvière (C)

Hôpital de la Timone, Néphrologie pédiatrique, Marseille, France.

Gwenaëlle Roussey (G)

Centre Hospitalier Universitaire de Nantes, Néphrologie pédiatrique, Nantes, France.

Sophie Taque (S)

Centre Hospitalier Universitaire de Rennes, Pédiatrie, Rennes, France.

Julie Tenenbaum (J)

Centre Hospitalier Regional Universitaire de Montpellier, Néphrologie pédiatrique, Montpellier, France.

Tim Ulinski (T)

Centre de référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), Centre de référence du syndrome néphrotique idiopathique de l'enfant et de l'adulte, Hôpital Necker-Enfants Malades, Paris, France.
Hôpital Armand-Trousseau, Néphrologie pédiatrique, Paris, France.

Rachel Vieux (R)

Centre Hospitalier Universitaire de Nancy, Pédiatrie, Nancy, France.

Ariane Zaloszyc (A)

CHU Hautepierre, Pédiatrie, Strasbourg, France.

Vincent Morinière (V)

Inserm U1163, Imagine Institute, Paris, France.

Rémi Salomon (R)

Hôpital Necker-Enfants malades, Néphrologie pédiatrique, Assistance Publique des Hôpitaux de Paris, Université Paris Descartes-Sorbonne Paris-Cité, Paris, France.
Centre de référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), Centre de référence du syndrome néphrotique idiopathique de l'enfant et de l'adulte, Hôpital Necker-Enfants Malades, Paris, France.
Inserm U1163, Imagine Institute, Paris, France.

Olivia Boyer (O)

Hôpital Necker-Enfants malades, Néphrologie pédiatrique, Assistance Publique des Hôpitaux de Paris, Université Paris Descartes-Sorbonne Paris-Cité, Paris, France.
Centre de référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), Centre de référence du syndrome néphrotique idiopathique de l'enfant et de l'adulte, Hôpital Necker-Enfants Malades, Paris, France.
Inserm U1163, Imagine Institute, Paris, France.

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Classifications MeSH

questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Caractéristiques de la maladie › Évolution de la maladie › Treatment and outcome of congenital nephrotic syndrome.
questionsmedicales.fr › Régions géographiques › Europe › France › Treatment and outcome of congenital nephrotic syndrome.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Treatment and outcome of congenital nephrotic syndrome.
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Collecte de données › Registre civil › Morbidité › Incidence › Treatment and outcome of congenital nephrotic syndrome.
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Treatment and outcome of congenital nephrotic syndrome.
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Nouveau-né › Treatment and outcome of congenital nephrotic syndrome.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Treatment and outcome of congenital nephrotic syndrome.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Treatment and outcome of congenital nephrotic syndrome.
questionsmedicales.fr › Procédures de chirurgie opératoire › Procédures de chirurgie urogénitale › Procédures de chirurgie urologique › Néphrectomie › Treatment and outcome of congenital nephrotic syndrome.
questionsmedicales.fr › Maladies urogénitales › Maladies urologiques › Maladies du rein › Néphrose › Syndrome néphrotique › Treatment and outcome of congenital nephrotic syndrome.
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études de cohortes › Études rétrospectives › Treatment and outcome of congenital nephrotic syndrome.
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Collecte de données › Registre civil › Mortalité › Taux de survie › Treatment and outcome of congenital nephrotic syndrome.
questionsmedicales.fr › Qualité, accès, évaluation des soins de santé › Qualité des soins de santé › Mécanismes d'évaluation des soins de santé › Évaluation des résultats et des processus en soins de santé › Évaluation de résultat (soins) › Résultat thérapeutique › Treatment and outcome of congenital nephrotic syndrome.