Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations.

ABSTRACT:

Background

Congenital nephrotic syndrome (CNS) is a rare disorder caused by various structural and developmental defects of glomeruli. It occurs typically as an isolated kidney disorder but associates sometimes with other systemic, extrarenal manifestations.

Case presentations

An infant presented with severe CNS, which progressed rapidly to renal failure at age of 3 months and death at 27 months. The clinical phenotypes and genetic causes were studied, including the renal pathology at autopsy. Besides the CNS, the affected child had remarkable right-side predominant eye-ball hypoplasia with bilateral anterior chamber dysgenesis (microcoria). Brain MRI revealed grossly normal development in the cerebrum, cerebellum, and brain stem. Auditory brainstem responses were bilaterall

SUBMITTER: Kino J 

PROVIDER: S-EPMC5501564 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature