Respiratory manifestations in 38 patients with Alstrom syndrome.

ABSTRACT:

Objectives

Alström syndrome (AS) is a rare, multi-system condition characterized by retinal degeneration, sensorineural hearing loss, obesity, insulin-resistant diabetes, hypertriglyceridemia, cardiomyopathy, hepatorenal disease, and recurrent respiratory infections. It belongs to a group of genetic disorders known as primary ciliopathies, which includes autosomal dominant and recessive polycystic kidney diseases, as well as Joubert and Bardet-Biedl syndromes. Prior studies have suggested phenotypic overlap between primary ciliopathies affecting the non-motile, sensory cilia, and primary ciliary dyskinesia (PCD), a motile ciliopathy characterized by respiratory tract disease.

Methods

We describe the burden of oto-sino-pulmonary disease in 38 individuals with AS and examines

SUBMITTER: Boerwinkle C 

PROVIDER: S-EPMC7171443 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature