Research & Literature

NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described.

Guaragna MS, Cleto TL, Souza ML, et al.

Nephrology (Carlton, Vic.) 2016; (21(9)):753-7 doi:10.1111/nep.12667.

Novel NPHS1 gene mutations in a Chinese family with congenital nephrotic syndrome.

Yang F, Chen Y, Zhang Y, et al.

Journal of genetics 2016; (95(1)):161-6 doi:10.1007/s12041-015-0598-6.

Rituximab is not a "magic drug" in post-transplant recurrence of nephrotic syndrome.

Grenda R, Jarmużek W, Rubik J, et al.

European journal of pediatrics 2016; (175(9)):1133-1137 doi:10.1007/s00431-016-2747-1.

Timing of renal replacement therapy does not influence survival and growth in children with congenital nephrotic syndrome caused by mutations in NPHS1: data from the ESPN/ERA-EDTA Registry.

Hölttä T, Bonthuis M, Van Stralen KJ, et al.

Pediatric nephrology (Berlin, Germany) 2016; (31(12)):2317-2325 doi:10.1007/s00467-016-3517-z.

Case Report: A Toddler With Anasarca Caused by Congenital Nephrotic Syndrome.

Satekge TM, Kiabilua O, van Biljon G, et al.

EJIFCC 2017; (28(2)):156-163.

Long-term outcome of congenital nephrotic syndrome after kidney transplantation in Japan.

Hamasaki Y, Muramatsu M, Hamada R, et al.

Clinical and experimental nephrology 2018; (22(3)):719-726 doi:10.1007/s10157-017-1508-4.

Organoids from Nephrotic Disease-Derived iPSCs Identify Impaired NEPHRIN Localization and Slit Diaphragm Formation in Kidney Podocytes.

Tanigawa S, Islam M, Sharmin S, et al.

Stem cell reports 2018; (11(3)):727-740 doi:10.1016/j.stemcr.2018.08.003.

Glomeruli from patients with nephrin mutations show increased number of ciliated and poorly differentiated podocytes.

Vukojevic K, Raguz F, Saraga M, et al.

Acta histochemica 2018; (120(8)):748-756 doi:10.1016/j.acthis.2018.08.015.

Nephrotic Syndrome.

Wang CS, Greenbaum LA

Pediatric clinics of North America 2019; (66(1)):73-85 doi:10.1016/j.pcl.2018.08.006.

Genetics of congenital and infantile nephrotic syndrome.

Sharief SN, Hefni NA, Alzahrani WA, et al.

World journal of pediatrics : WJP 2019; (15(2)):198-203 doi:10.1007/s12519-018-00224-0.

Analysis of 14 Patients With Congenital Nephrotic Syndrome.

Chen Y, Zhang Y, Wang F, et al.

Frontiers in pediatrics 2019; (7()):341 doi:10.3389/fped.2019.00341.

Gastric duplication cyst in an infant with Finnish-type congenital nephrotic syndrome: concurrence or coincidence?

Güngör T, Eroğlu FK, Kargın Çakıcı E, et al.

Acta clinica Belgica 2021; (76(2)):155-157 doi:10.1080/17843286.2019.1675333.

[Prenatal diagnosis of a fetus affected with Finnish type congenital nephrotic syndrome].

Chu Y, Hou Q, Wu D, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019; (36(10)):1022-1024 doi:10.3760/cma.j.issn.1003-9406.2019.10.018.

[A case of severe congenital nephrotic syndrome secondary to NPHS1 mutation].

Quiros A, Lefèbvre C, Collard L, et al.

Revue medicale de Liege 2020; (75(7-8)):544-547.

Management of congenital nephrotic syndrome: consensus recommendations of the ERKNet-ESPN Working Group.

Boyer O, Schaefer F, Haffner D, et al.

Nature reviews. Nephrology 2021; (17(4)):277-289 doi:10.1038/s41581-020-00384-1.

Endoplasmic reticulum-associated degradation is required for nephrin maturation and kidney glomerular filtration function.

Yoshida S, Wei X, Zhang G, et al.

The Journal of clinical investigation 2021; (131(7)).

Unilateral nephrectomy for young infants with congenital nephrotic syndrome of the Finnish type.

Murakoshi M, Kamei K, Ogura M, et al.

Clinical and experimental nephrology 2022; (26(2)):162-169 doi:10.1007/s10157-021-02141-5.

Genetic Variations and Clinical Features of NPHS1-Related Nephrotic Syndrome in Chinese Children: A Multicenter, Retrospective Study.

Rong L, Chen L, Rao J, et al.

Frontiers in medicine 2021; (8()):771227 doi:10.3389/fmed.2021.771227.

Physical performance capacity after pediatric kidney transplant and clinical parameters associated with physical performance capacity.

Mäenpää H, Tainio J, Arokoski J, Jahnukainen T

Pediatric nephrology (Berlin, Germany) 2023; (38(5)):1633-1642 doi:10.1007/s00467-022-05758-0.

Usefulness of Early Genetic Diagnosis for Twins With a Family History of Congenital Nephrotic Syndrome.

Toya Y, Ishikawa K, Yoshida T, et al.

Cureus 2023; (15(3)):e36667 doi:10.7759/cureus.36667.

A Case of Congenital Nephrotic Syndrome with Crescents Caused by a Novel Compound Heterozygous Pairing of NPHS1 Genetic Variants.

Goodman KN, Puapatanakul P, Barton KT, et al.

Case reports in nephrology 2024; (2024()):5121375 doi:10.1155/2024/5121375.

A novel NPHS1 variant in a Chinese infant with congenital nephrotic syndrome: a case report and literature review.

Zhang W, Hou LM, Cheng X

Frontiers in pediatrics 2025; (13()):1632898 doi:10.3389/fped.2025.1632898.