Pendred syndrome and iodide transport in the thyroid.

Details

Serval ID
serval:BIB_FA6BD1A234F7
Type
Article: article from journal or magazin.
Collection
Publications
Title
Pendred syndrome and iodide transport in the thyroid.
Journal
Trends in endocrinology and metabolism
Author(s)
Kopp P., Pesce L., Solis-S J.C.
ISSN
1043-2760 (Print)
ISSN-L
1043-2760
Publication state
Published
Issued date
09/2008
Peer-reviewed
Oui
Volume
19
Number
7
Pages
260-268
Language
english
Notes
Publication types: Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
Publication Status: ppublish
Abstract
Pendred syndrome is an autosomal recessive disorder characterized by sensorineural hearing impairment, presence of goiter, and a partial defect in iodide organification, which may be associated with insufficient thyroid hormone synthesis. Goiter development and development of hypothyroidism are variable and depend on nutritional iodide intake. Pendred syndrome is caused by biallelic mutations in the SLC26A4 gene, which encodes pendrin, a transporter of chloride, bicarbonate and iodide. This review discusses the controversies surrounding the potential role of pendrin in mediating apical iodide efflux into the lumen of thyroid follicles, and discusses its functional role in the kidney and the inner ear.
Keywords
Goiter/genetics, Goiter/metabolism, Hearing Loss, Sensorineural/genetics, Hearing Loss, Sensorineural/metabolism, Humans, Iodides/metabolism, Membrane Transport Proteins/genetics, Membrane Transport Proteins/metabolism, Sulfate Transporters, Syndrome, Thyroid Gland/metabolism
Pubmed
Web of science
Create date
30/12/2020 14:10
Last modification date
31/12/2020 6:26
Usage data