Genetic mutation in congenital nephrotic syndrome Finnish type: a case report and literature review 

  • 陈艳芸,章小雷
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  • Children's Medical Center, Affiliated Hospital of Guangdong Medical University, Zhanjiang 524001, Guangdong, China)

Online published: 2019-06-10

Abstract

 Objective To explore the clinical manifestations of congenital nephrotic syndrome Finnish type (CNF) and the type of mutations in NPHS1 gene. Method The clinical characteristics, NPHS1 gene test results of CNF in a child and his parents were retrospectively analyzed, and the related literature was reviewed. Results A boy was born prematurely at 34 weeks of gestational age, and showed clinical manifestations of nephrotic syndrome immediately after birth. All serological examinations were negative, and there was no family history. NPHS1 gene mutations, C. 741G > A, P. (Trp247*) and C. 928G > A, P. (Asp310Asn), were found and the infant was diagnosed with CNF. Among them, C. 741G > A, P. (Trp247*) has not been reported at home and abroad. Conclusion The newly found C. 741G > A nonsense mutation enriches the mutation spectrum of NPHS1 gene.

Cite this article

陈艳芸,章小雷 . Genetic mutation in congenital nephrotic syndrome Finnish type: a case report and literature review [J]. Journal of Clinical Pediatrics, 2019 , 37(6) : 445 . DOI: 10.3969/j.issn.1000-3606.2019.06.011

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