Treatment and outcome of congenital nephrotic syndrome

Bérody, Sandra; Heidet, Laurence; Gribouval, Olivier; Harambat, Jérôme; Niaudet, Patrick; Baudouin, Véronique; Bacchetta, Justine; Boudaillez, B.; Dehennault, Maud; Parscau, L. De; Dunand, Olivier; Flodrops, Hugues; Fila, Marc; Garnier, Arnaud; Louillet, Férielle; Macher, Marie‐Alice; May, Adrien; Mérieau, Elodie; Monceaux, Françoise; Piètrement, Christine; Rousset‐Rouvière, Caroline; Roussey, G.; Taque, Sophie; Tenenbaum, Julie; Ulinski, Tim; Vieux, Rachel; Zaloszyc, Ariane; Morinière, Vincent; Salomon, Rémi; Boyer, Olivia

doi:10.1093/ndt/gfy015

Cited by 53 publications

(57 citation statements)

References 41 publications

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“…As a result, we identi ed and analyzed a total of 83 patients with CNS or INS. In the present study, the estimated prevalence of CNS among Japanese children aged 0-15 years was 0.76 cases/100,000 children, which is comparable to the estimated cumulative incidence of CNS reported in a study of 55 CNS children in France (0.5/100 000 live births) [12].…”

Section: Discussionsupporting

confidence: 83%

A cross-sectional nationwide survey of congenital and infantile nephrotic syndrome in Japan

Hamasaki

Hamada

Muramatsu

et al. 2020

Preprint

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Background: Congenital nephrotic syndrome (CNS) and infantile nephrotic syndrome (INS) cause substantial morbidity and mortality. In Japan, there is a lack of knowledge regarding the characteristics of CNS and INS. This study aimed to clarify the characteristics of CNS and INS in Japan.Methods: This cross-sectional nationwide survey obtained data from 44 institutions in Japan managing 92 patients with CNS or INS, by means of two survey questionnaires sent by postal mail. Patients aged <16 years by 1 April 2015, with a diagnosis of CNS or INS, were included in this study. The primary outcome was end-stage kidney disease.Results: A total of 83 patients with CNS or INS were analyzed. The most frequent disease type was non-Finnish (60.2%); 33 patients (39.8%) had Finnish type. Among those with non-Finnish-type disease, 26 had no syndrome and 24 had a syndrome, of which the most frequent was Denys–Drash syndrome (70.8%). Patients with non-Finnish-type disease with syndrome showed the earliest progression to end-stage kidney disease compared with the other two groups, whereas patients with non-Finnish-type disease without syndrome progressed more slowly compared with the other two groups. In the Finnish-type group, the disease was diagnosed the earliest; a large placenta was reported more frequently; genetic testing was more frequently performed (93.8%); mental retardation was the most frequent extra-renal symptom (21.2%); and thrombosis and infection were more frequent compared with the other groups. Patients with non-Finnish-type disease with syndrome had a higher frequency of positive extra-renal symptoms (79.2%), the most common being urogenital symptoms (54.2%). Treatment with steroids and immunosuppressants was more frequent among patients with non-Finnish-type disease without syndrome. Two patients with non-Finnish-type disease without syndrome achieved complete remission. In all groups, unilateral nephrectomy was performed more often than bilateral nephrectomy and peritoneal dialysis was the most common renal replacement therapy.Conclusions: The present epidemiological survey sheds light on the characteristics of children with CNS and INS in Japan. A high proportion of patients underwent genetic examination, and patient management was in accord with current treatment recommendations and practices.Trial registration: Not applicable.

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Section: Discussionsupporting

confidence: 83%

A cross-sectional nationwide survey of congenital and infantile nephrotic syndrome in Japan

Hamasaki

Hamada

Muramatsu

et al. 2020

Preprint

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“…Demographic details and details at presentation are described in a previous study [7]. Briefly, children presented at a median age of 9 (2-45) days with a median Salbumin of 11 (8)(9)(10)(11)(12)(13)(14)(15)(16) g/L and S-creatinine of 27 (16-56, max 480) μmol/L. A genetic diagnosis was confirmed in 69 (86%) (NPHS1 in 55 (69%), WT1 in 9 (11%), NPHS2 in 1 (1.3%), LAMB2 in 2 (2.5%), PLCE1 in 1 (1.3%) and in 1 (1.3%) a mutation in a new gene, SGPL-1, was found [10]).…”

Section: Demographic Detailsmentioning

confidence: 99%

“…Due to the rarity of CNS, details of dialysis in infants with CNS are scarce and no recommendations are available [5,8]. Recently, data on renal and patient survival in children with CNS were published by the French group [9] and data on dialysis and transplantation outcomes by the European Renal Association/European Dialysis and Transplantation Association (ERA/EDTA) registry [4]. However, specific information on the dialysis management and complications are not available from those studies.…”

Section: Introductionmentioning

confidence: 99%

Infants with congenital nephrotic syndrome have comparable outcomes to infants with other renal diseases

et al. 2018

Self Cite

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Background Children with congenital nephrotic syndrome (CNS) commonly develop end stage renal failure in infancy and require dialysis, but little is known about the complications and outcomes of dialysis in these children. Methods We conducted a retrospective case note review across members of the European Society for Pediatric Nephrology Dialysis Working Group to evaluate dialysis management, complications of dialysis, and outcomes in children with CNS. Results Eighty children (50% male) with CNS were identified form 17 centers over a 6-year period. Chronic dialysis was started in 44 (55%) children at a median age of 8 (interquartile range 4-14) months. Of these, 17 (39%) were on dialysis by the age of 6 months, 30 (68%) by 1 year, and 40 (91%) by 2 years. Peritoneal dialysis (PD) was the modality of choice in 93%, but 34% switched to hemodialysis (HD), largely due to catheter malfunction (n = 5) or peritonitis (n = 4). The peritonitis rate was 0.77 per patient-year. Weight and height SDS remained static after 6 months on dialysis. In the overall cohort, at final follow-up, 29 children were transplanted, 18 were still on dialysis (15 PD, 3 HD), 19 were in pre-dialysis chronic kidney disease (CKD), and there were 14 deaths (8 on dialysis). Median time on chronic dialysis until transplantation was 9 (6-18) months, and the median age at transplantation was 22 (14-28) months.

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“…Children with nephrotic syndrome mostly respond well to steroids and have a favorable prognosis. In contrast, therapy‐resistant nephrotic syndrome generally results in ESRD within a few years 1,2 …”

Section: Introductionmentioning

confidence: 99%

“…In order to improve the circulatory status during and after renal transplantation and allow for early detection of proteinuria of the transplant kidney, treatment to stop the native proteinuria is often needed. Currently, the treatment of choice in such patients is surgical nephrectomy 2,8 . This leads to at least one additional operation in these patients, which is known to have high rates of morbidity and even mortality (up to 2.0%) 9,10 .…”

Section: Introductionmentioning

confidence: 99%

Preparing for a kidney transplant: Medical nephrectomy in children with nephrotic syndrome

Vos

Koster-Kamphuis

Kar

et al. 2020

Pediatric Transplantation

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Nephrotic syndrome is characterized by proteinuria, hypoalbuminemia, and general edema. These symptoms may persist in children who reach ESRD, which is unfavorable for the patient's allograft outcome. In addition, this may hamper early diagnosis of a relapse after transplantation. Surgical bilateral nephrectomy is often considered for that reason, but medical nephrectomy may be a less invasive alternative. In this retrospective single-center case series, we identified all children on dialysis with ESRD due to nephrotic syndrome in which a medical nephrectomy was attempted before kidney transplantation between 2013 and 2018. Outcome was measured by urine output and serum albumin levels. Eight patients with either congenital nephrotic syndrome or focal segmental glomerular sclerosis were included in the study. All patients received an ACE inhibitor as drug of first choice for medical nephrectomy, to which 5 patients responded with oligoanuria and a significant rise in serum albumin, and 3 patients responded insufficiently. In 1 of these 3 patients, diclofenac was added to the ACE inhibitor, with good result. In the other 2 patients, indomethacin was initiated without success, and surgical bilateral nephrectomy was performed. Overall, 6/8 patients had a successful medical nephrectomy and did not need surgical nephrectomy. No recurrence of nephrotic syndrome was found after kidney transplantation in all but one. Medical nephrectomy with ACE inhibitors and/or non-steroidal anti-inflammatory drugs is a safe and non-invasive therapy to minimize proteinuria in children with ESRD due to nephrotic syndrome before kidney transplantation. We suggest that this strategy should be considered as therapy before proceeding with surgical nephrectomy. K E Y W O R D SACE inhibitors, kidney transplantation, medical nephrectomy, nephrotic syndrome, NSAIDs

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Treatment and outcome of congenital nephrotic syndrome

Cited by 53 publications

References 41 publications

A cross-sectional nationwide survey of congenital and infantile nephrotic syndrome in Japan

A cross-sectional nationwide survey of congenital and infantile nephrotic syndrome in Japan

Infants with congenital nephrotic syndrome have comparable outcomes to infants with other renal diseases

Preparing for a kidney transplant: Medical nephrectomy in children with nephrotic syndrome

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