Sandra Bérody1, Laurence Heidet1,2,3, Olivier Gribouval3, Jérome Harambat4, Patrick Niaudet1,2,3, Veronique Baudouin2,5, Justine Bacchetta6, Bernard Boudaillez7, Maud Dehennault8, Loïc de Parscau9, Olivier Dunand10, Hugues Flodrops11, Marc Fila12, Arnaud Garnier13, Ferielle Louillet14, Marie-Alice Macher5, Adrien May15, Elodie Merieau16, Françoise Monceaux17, Christine Pietrement18, Caroline Rousset-Rouvière19, Gwenaëlle Roussey20, Sophie Taque21, Julie Tenenbaum12, Tim Ulinski2,22, Rachel Vieux23, Ariane Zaloszyc24, Vincent Morinière3, Rémi Salomon1,2,3, Olivia Boyer1,2,3. 1. Hôpital Necker-Enfants malades, Néphrologie pédiatrique, Assistance Publique des Hôpitaux de Paris, Université Paris Descartes-Sorbonne Paris-Cité, Paris, France. 2. 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. 3. Inserm U1163, Imagine Institute, Paris, France. 4. Centre Hospitalier Universitaire de Bordeaux, Néphrologie pédiatrique, Bordeaux, France. 5. Hôpital Universitaire Robert Debré, Néphrologie pédiatrique, Paris, France. 6. Hôpital Femme Mère Enfants, Néphrologie pédiatrique, Bron, France. 7. Centre Hospitalier Universitaire d'Amiens, Pédiatrie, Amiens, France. 8. CHRU Jeanne de Flandre, Pédiatrie, Lille, France. 9. CHRU de Brest, Pédiatrie, Brest, France. 10. CHU Felix Guyon, Pédiatrie, Saint-Denis, La Reunion, France. 11. CHU GHSR Saint Pierre, Pédiatrie, La Réunion, France. 12. Centre Hospitalier Regional Universitaire de Montpellier, Néphrologie pédiatrique, Montpellier, France. 13. Centre Hospitalier Universitaire de Toulouse, Néphrologie pédiatrique, Toulouse, France. 14. Centre Hospitalier Universitaire de Rouen, Pédiatrie, Rouen, France. 15. Centre Hospitalier Sud Francilien, Pédiatrie, Corbeil-Essonnes, France. 16. CHU Clocheville, Pédiatrie, Tours, France. 17. Centre Hospitalier Regional d'Orléans, Pédiatrie, Orleans, France. 18. American Memorial Hospital, Néphrologie pédiatrique, Reims, France. 19. Hôpital de la Timone, Néphrologie pédiatrique, Marseille, France. 20. Centre Hospitalier Universitaire de Nantes, Néphrologie pédiatrique, Nantes, France. 21. Centre Hospitalier Universitaire de Rennes, Pédiatrie, Rennes, France. 22. Hôpital Armand-Trousseau, Néphrologie pédiatrique, Paris, France. 23. Centre Hospitalier Universitaire de Nancy, Pédiatrie, Nancy, France. 24. CHU Hautepierre, Pédiatrie, Strasbourg, France.
Abstract
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.
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.
Authors: Sara Nawfal Sharief; Nada Abdullatif Hefni; Walaa Ali Alzahrani; Iman Ibrahim Nazer; Marwa Abdullah Bayazeed; Khalid A Alhasan; Osama Y Safdar; Sherif M El-Desoky; Jameela Abdulaziz Kari Journal: World J Pediatr Date: 2019-02-05 Impact factor: 2.764