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Two Children With Novel TRPC6 Spontaneous Missense Mutations and Atypical Phenotype: A Case Report and Literature Review

Background: The phenotypes of TRPC6 mutations have been reported mainly in familial and sporadic focal segmental glomerulosclerosis (FSGS), which can occur in both adults and children. Herein, we report on two children with novel TRPC6 spontaneous missense mutations associated with immune complex-me...

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Main Authors: Meiqiu Wang, Ren Wang, Xu He, Min Yu, Zhengkun Xia, Chunlin Gao
Format: Artigo
Language:Inglês
Published: Frontiers Media S.A. 2020-05-01
Series:Frontiers in Pediatrics
Subjects:
TRPC6
SRNS
proteinuria
Genetic testing
immune complex-mediated glomerulonephritis
Online Access:https://www.frontiersin.org/article/10.3389/fped.2020.00269/full
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