Identification of bone metabolism disorders in patients with Alstrom and Bardet-Biedl syndromes based on markers of bone turnover and mandibular atrophy.

ABSTRACT:

Objectives

Causative variants in genes responsible for Alström syndrome (ALMS) and Bardet-Biedl syndrome (BBS) cause damage to primary cilia associated with correct functioning of cell signaling pathways in many tissues. Despite differences in genetic background, both syndromes affect multiple organs and numerous clinical manifestations are common including obesity, retinal degeneration, insulin resistance, type 2 diabetes and many others. The aim of the study was to evaluate bone metabolism abnormalities and their relation to metabolic disorders based on bone turnover markers and presence of mandibular atrophy in patients with ALMS and BBS syndromes.

Material and methods

In 18 patients (11 with ALMS and 7 with BBS aged 5-29) and in 42 age-matched (p < 0.05) healthy s

SUBMITTER: Jeziorny K 

PROVIDER: S-EPMC9270207 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature