Management of children with congenital nephrotic syndrome: challenging treatment paradigms

Dufek, Stephanie; Hölttä, Tuula; Trautmann, Agnes; Ylinen, Elisa; Alpay, Harika; Ariceta, Gema; Aufricht, Christoph; Bacchetta, Justine; Bakkaloğlu, Sevcan A.; Bayazıt, Aysun Karabay; Çiçek, Rümeysa Yasemin; Dursun, İsmail; Düzova, Ali; Ekı̇m, Mesı̇ha; Iancu, Daniela; Jankauskienė, Augustina; Klaus, Günter; Paglialonga, Fabio; Pasini, Andrea; Printza, Nikoleta; Conti, Valerie Said; Faria, Maria do Sameiro; Schmitt, Claus Peter; Stefanidis, Constantinos J.; Verrina, Enrico; Vidal, Enrico; Vondrák, Karel; Webb, Hazel; Zampetoglou, Argyroula; Böckenhauer, Detlef; Edefonti, Alberto; Shroff, Rukshana

doi:10.1093/ndt/gfy165

Cited by 34 publications

(42 citation statements)

References 23 publications

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“…Molecular screening was performed in the local center according to the center-specific standards. Details on the genetic background of each patient are provided in Dufek et al [7].…”

Section: Methodsmentioning

confidence: 99%

“…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]). No mutation was found in 11 (14%) children [7].…”

Section: Demographic Detailsmentioning

confidence: 95%

“…In total, 80 children (50% male, 90% Caucasian) with CNS were included. 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.…”

Section: Demographic Detailsmentioning

confidence: 99%

“…Of these, 23 (52%) children had nephrectomies before commencing dialysis (18 bilateral nephrectomies, 2 unilateral nephrectomy with second kidney removed after start of dialysis, and 3 unilateral nephrectomy only), and 8 (18%) children had bilateral nephrectomies after commencing dialysis, while 13 (30%) did not have nephrectomies during the study period. Bilateral nephrectomies were performed in 19 (76%) children with NPHS1, in no child with NPHS2, in 6 (86%) children with WT1 (as 1 child died before second nephrectomy), and in 3 (27%) children with other diagnosis at a median age of 8 (6)(7)(8)(9)(10)(11)(12)(13)(14) months. The median S-creatinine just prior to performing bilateral nephrectomies was 19 (13-246) μmol/l.…”

Section: Chronic Dialysismentioning

confidence: 99%

“…In a review across the European Society for Paediatric Nephrology (ESPN) dialysis working group, we have shown that in children with NPHS1 mutations, there is no clear genotype-phenotype correlation and the severity of the clinical presentation may vary. We therefore suggest that an individualized, stepwise approach with prolonged conservative management may be a reasonable alternative to early bilateral nephrectomies and dialysis in children with CNS due to NPHS1 mutations [7].…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2018

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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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“…Molecular screening was performed in the local center according to the center-specific standards. Details on the genetic background of each patient are provided in Dufek et al [7].…”

Section: Methodsmentioning

confidence: 99%

Section: Demographic Detailsmentioning

confidence: 95%

Section: Demographic Detailsmentioning

confidence: 99%

Section: Chronic Dialysismentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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

et al. 2018

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Skimmed breast milk for treatment of hypertriglyceridemia in an infant with congenital nephrotic syndrome

et al. 2021

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Congenital nephrotic syndrome (CNS) is a complex condition that requires multidisciplinary care. Hyperlipidemia is a characteristic feature with elevation of serum cholesterol and triglycerides. Little evidence is available to guide treatment of dyslipidemia in infants with CNS. We describe successful treatment of severe hypertriglyceridemia through dietary changes in a boy with CNS. A 9-day-old boy presented to the emergency department with lower extremity edema caused by deep venous thrombosis. Laboratory evaluation identified hypoalbuminemia, nephrotic-range proteinuria, and a pathogenic variant of the NPHS1 gene. The initial triglyceride concentration of 369 mg/dl increased to 3096 mg/dl by 5 weeks of age, when his diet consisted of breast milk. Refrigerated breast milk was skimmed by removing the top layer after allowing it to separate for 24 h. This process was repeated prior to use. Skimmed breast milk was supplemented with medium-chain triglyceride oil and an infant protein powder. After 2 days, the triglyceride concentration declined to 481 mg/dl and, by day 10, to 148 mg/dl. When breast milk supply decreased, a 1:1 ratio of skimmed maternal breast milk to an elemental, very low-fat formula was utilized. The triglyceride concentration remained below 400 mg/dl for the first year of life, except when skimmed breast milk was not available during hospitalization. Severe hypertriglyceridemia caused by CNS can present in the neonatal period and be difficult to manage. In our patient, skimmed maternal breast milk was successful in reducing the triglyceride concentration and should be considered a therapeutic option for children with hyperlipidemia caused by CNS.

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Congenital Nephrotic Syndrome

Jalanko

Jahnukainen

2022

Pediatric Nephrology

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Management of children with congenital nephrotic syndrome: challenging treatment paradigms

Abstract: An individualized, stepwise approach with prolonged conservative management may be a reasonable alternative to early bilateral nephrectomies and dialysis in children with CNS and NPHS1 mutations. Further prospective studies are needed to define indications for unilateral nephrectomy.

Cited by 34 publications

References 23 publications

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

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

Skimmed breast milk for treatment of hypertriglyceridemia in an infant with congenital nephrotic syndrome

Congenital Nephrotic Syndrome

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