Habib R (1993) Nephrotic syndrome in the 1st year of life. Pediatr Nephrol 7:347–353

Article  CAS  PubMed  Google Scholar 

Gbadegesin R, Winn M, Smoyer WE (2013) Genetic testing in nephrotic syndrome: challenges and opportunities. Nat Rev Nephrol 9:179–184

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cil O, Besbas N, Duzova A, Topaloglu R, Peco-Antić A, Korkmaz E et al (2015) Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome. Pediatr Nephrol 30:1279–1287

Article  PubMed  Google Scholar 

Bérody S, Heidet L, Gribouval O, Harambat J, Niaudet P, Baudouin V et al (2019) Treatment and outcome of congenital nephrotic syndrome. Nephrol Dial Transplant 34:458–467

Article  PubMed  Google Scholar 

Hinkes BG, Mucha B, Vlangos CN, Gbadegesin R, Liu J, Hasselbacher K et al (2007) Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). Pediatrics 119:907–919

Article  Google Scholar 

Boyer O, Schaefer F, Haffner D, Bockenhauer D, Hölttä T, Bérody S et al (2021) Management of congenital nephrotic syndrome: consensus recommendations of the ERKNet-ESPN Working Group. Nat Rev Nephrol 17:277–289

Article  PubMed  PubMed Central  Google Scholar 

Sharief SN, Hefni NA, Alzahrani WA, Nazer II, Bayazeed MA, Alhasan KA et al (2019) Genetics of congenital and infantile nephrotic syndrome. World J Pediatr 15:198–203

Article  CAS  PubMed  Google Scholar 

Santín S, Bullich G, Tazón-Vega B, García-Maset R, Giménez I, Silva I et al (2011) Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol 6:1139–1148

Article  PubMed  PubMed Central  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405–424

Article  PubMed  PubMed Central  Google Scholar 

Dufek S, Holtta T, Trautmann A, Ylinen E, Alpay H, Ariceta G et al (2019) Management of children with congenital nephrotic syndrome: challenging treatment paradigms. Nephrol Dial Transplant 34:1369–1377

Article  CAS  PubMed  Google Scholar 

Sinha R, Ray Chaudhury A, Sarkar S, Banerjee S, Pulai S, Dasgupta S et al (2022) High incidence of COL4A genetic variants among a cohort of children with Steroid-resistant nephrotic syndrome from Eastern India. Kidney Int Rep 7:913–915

Article  PubMed  PubMed Central  Google Scholar 

Joshi A, Sinha A, Sharma A, Shamim U, Uppilli B, Sharma P et al (2021) Next-generation sequencing for congenital nephrotic syndrome: a multi-center cross-sectional study from India. Indian Pediatr 58:445–451

Article  PubMed  Google Scholar 

Cho HY, Lee JH, Choi HJ, Lee BH, Ha IS, Choi Y et al (2008) WT1 and NPHS2 mutations in Korean children with steroid-resistant nephrotic syndrome. Pediatr Nephrol 23:63–70

Article  PubMed  Google Scholar 

Braun DA, Sadowski CE, Kohl S, Lovric S, Astrinidis SA, Pabst WL et al (2016) Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. Nat Genet 48:457–465

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bierzynska A, Bull K, Miellet S, Dean P, Neal C, Colby E et al (2022) Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model. Pediatr Nephrol 37:2643–2656

Article  PubMed  PubMed Central  Google Scholar 

Bezdíčka M, Štolbová Š, Seeman T, Cinek O, Malina M, Šimánková N et al (2018) Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93. Pediatr Nephrol 33:1347–1363

Article  PubMed  Google Scholar 

Cason RK, Williams A, Chryst-Stangl M, Wu G, Huggins K, Brathwaite KE et al (2022) Collapsing focal segmental glomerulosclerosis in siblings with compound heterozygous variants in NUP93 expand the spectrum of kidney phenotypes associated with nucleoporin gene mutations. Front Pediatr 10:915174

Article  PubMed  PubMed Central  Google Scholar 

Kashtan CE, Gross O (2021) Clinical practice recommendations for the diagnosis and management of Alport syndrome in children, adolescents, and young adults-an update for 2020. Pediatr Nephrol 36:711–719

Article  PubMed  Google Scholar 

Feltran LS, Varela P, Silva ED, Veronez CL, Franco MC, Filho AP et al (2017) Targeted next-generation sequencing in Brazilian children with nephrotic syndrome submitted to renal transplant. Transplantation 101:2905–2912

Article  PubMed  Google Scholar 

Malone AF, Phelan PJ, Hall G, Cetincelik U, Homstad A, Alonso AS et al (2014) Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis. Kidney Int 86:1253–1259

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hoffman-Andrews L (2017) The known unknown: the challenges of genetic variants of uncertain significance in clinical practice. J Law Biosci 1:648–657

Article  Google Scholar 

Vasudevan A, Thergaonkar R, Mantan M, Sharma J, Khandelwal P, Hari P et al (2021) Consensus guidelines on management of steroid-resistant nephrotic syndrome. Indian Pediatr 58:650–666

Article  PubMed  Google Scholar 

Ríos-Barnés M, Fortuny C, Alarcón A, Noguera-Julian A (2021) Renal involvement in congenital cytomegalovirus infection: a systematic review. Microorganisms 9:1304–1326

Article  PubMed  PubMed Central  Google Scholar