pathophysiology
Last reviewed 01/2018
Pathophysiology
- pathophysiology of Bardet-Biedl syndrome is still
largely unknown but it appears that cilia dysfunction lies at the centre of the
condition. The abnormal cilia are spread throughout the body are involved with
numerous functions including cell signalling and embryological development. Other
diseases that may be due to cilia dysfunction include (1):
- polycystic kidneys
- retinitis pigmentosa
- situs invertus
- kartagener's syndrome
Reference: