Clinical and molecular characteristics of Pendred syndrome.

[pendred syndrome]

Pendred syndrome is an autosomal recessive disorder defined by sensorineural deafness , goiter and a partial defect in the organification of iodide . It is caused by biallelic mutations in the SLC 26 A 4 gene , which encodes pendrin , a multifunctional anion exchanger . At the level of the inner ear , pendrin is important for the creation of a normal endolymph composition and the maintenance of the endocochlear potential . In the thyroid , pendrin is expressed at the apical membrane of thyroid follicular cells and it appears to be involved in mediating iodide efflux into the lumen and /or maintenance of the follicular pH . Goiter development and hypothyroidism vary among affected individuals and seem to be partially dependent on nutritional iodide intake . In the kidney , pendrin functions as a chloride /bicarbonate exchanger . Elucidation of the molecular basis of Pendred syndrome and the function of pendrin has provided unexpected novel insights into the pathophysiology of the inner ear , thyroid hormone synthesis , and chloride /bicarbonate exchange in the kidney .

Diseases
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Diseases presenting "thyroid hormone synthesis" symptom

pendred syndrome

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