Ultrasound evaluation of kidney and liver involvement in Bardet-Biedl syndrome.

ABSTRACT:

Background

Bardet-Biedl syndrome (BBS) is a rare autosomal-recessive ciliopathy with pathogenic variants in 26 BBS genes. It affects multiple organs, including the kidney and liver, with varying degrees regarding extent and time of first manifestation. Structural renal anomalies are an early feature and end-stage kidney disease (ESKD) cumulates to 25% in adulthood. Early-onset hyperphagia-associated obesity is another major symptom and contributes to liver pathology, presenting as steatosis/fibrosis. Aim of this study is the evaluation of high-end ultrasound (US) technologies in BBS patients regarding their potential to discriminate liver and kidney tissue pathology at an early stage.

Materials and methods

Patients with genetically proven BBS were recruited from the Universi

SUBMITTER: Cetiner M 

PROVIDER: S-EPMC11556208 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature