Ultrasound evaluation of kidney and liver involvement in Bardet–Biedl syndrome

作者：Metin Cetiner, Ilja Finkelberg, Felix Schiepek, Lars Pape, Raphael Hirtz, Anja Katrin Büscher · 发表于：Orphanet Journal of Rare Diseases · 年份：2024 · DOI：10.1186/s13023-024-03400-w · 被引用次数：11 · 研究领域：Genetic and Kidney Cyst Diseases、Hedgehog Signaling Pathway Studies、Cystic Fibrosis Research Advances

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 University Children's Hospital of Essen and from BBS patient days hosted in Germany. Acute illness was an exclusion criterion. Clinical and laboratory data were extracted from patients' digital records or medical letters. High-resolution ultrasound (US) imaging was utilized, including attenuation imaging (ATI), shear wave elastography (SWE) and dispersion (SWD) of liver tissue. RESULTS: 49 BBS patients (24/49 male; 1.1-51.0 years, mean 17.8 years) were included in the study. Mean body weight (SDS 2.13 ± 1.33) and BMI (SDS 2.64 ± 1.18) were increased. Structural kidney abnormalities (dysplasia, cysts) were present in 75% (36/48), and persistent fetal lobulation in 44% (21/48). Renal function was impaired in 27% (...