Journal article
Pendred syndrome and iodide transport in the thyroid
Trends in endocrinology and metabolism, Vol.19(7), pp.260-268
2008
DOI: 10.1016/j.tem.2008.07.001
PMID: 18692402
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.
Details
- Title: Subtitle
- Pendred syndrome and iodide transport in the thyroid
- Creators
- Peter Kopp - Division of Endocrinology, Metabolism and Molecular Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL 60614, USALiuska Pesce - Division of Endocrinology, Metabolism and Molecular Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL 60614, USAJuan Carlos Solis-S - Division of Endocrinology, Metabolism and Molecular Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL 60614, USA
- Resource Type
- Journal article
- Publication Details
- Trends in endocrinology and metabolism, Vol.19(7), pp.260-268
- Publisher
- Elsevier Ltd
- DOI
- 10.1016/j.tem.2008.07.001
- PMID
- 18692402
- ISSN
- 1043-2760
- eISSN
- 1879-3061
- Language
- English
- Date published
- 2008
- Academic Unit
- Endocrinology and Diabetes; Stead Family Department of Pediatrics
- Record Identifier
- 9984093324302771
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