Attention to renal involvement: report of 17 Joubert syndrome cases in children of a single center in China.

ABSTRACT:

Background

Joubert Syndrome (JS) is a rare genetic developmental disorder. We are aiming for increasing awareness of this disease especially kidney involvement in children with JS.

Methods

Clinical and genetic data of 17 cases of JS in Beijing children's hospital in the past 21 years were collected retrospectively.

Results

Twelve males and 5 females, aged from 12d to 15y8m. The most common involvement was neurological system involvement. The second most common involvement was renal involvement: end stage kidney disease in 6 cases (35%), hematuria in 5 cases (29%), proteinuria in 5 cases (29%), renal diffuse lesions in 4 cases (24%), renal cystic lesions in 2 cases (12%), and echogenic enhancement of parenchyma in 2 cases (12%). 10 cases did genetic tests. 3 cases with

SUBMITTER: Ying L 

PROVIDER: S-EPMC9297557 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature