Pendred syndrome.

Détails

ID Serval
serval:BIB_6532C8350EFC
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Pendred syndrome.
Périodique
Best practice & research. Clinical endocrinology & metabolism
Auteur(s)
Wémeau J.L., Kopp P.
ISSN
1878-1594 (Electronic)
ISSN-L
1521-690X
Statut éditorial
Publié
Date de publication
03/2017
Peer-reviewed
Oui
Volume
31
Numéro
2
Pages
213-224
Langue
anglais
Notes
Publication types: Journal Article ; Review
Publication Status: ppublish
Résumé
Pendred syndrome is an autosomal recessive disorder that is classically defined by the combination of sensorineural deafness/hearing impairment, goiter, and an abnormal organification of iodide with or without hypothyroidism. The hallmark of the syndrome is the impaired hearing, which is associated with inner ear malformations such as an enlarged vestibular aqueduct (EVA). The thyroid phenotype is variable and may be modified by the nutritional iodine intake. Pendred syndrome is caused by biallelic mutations in the SLC26A4/PDS gene, which encodes the multifunctional anion exchanger pendrin. Pendrin has affinity for chloride, iodide, and bicarbonate, among other anions. In the inner ear, pendrin functions as a chloride/bicarbonate exchanger that is essential for maintaining the composition and the potential of the endolymph. In the thyroid, pendrin is expressed at the apical membrane of thyroid cells facing the follicular lumen. Functional studies have demonstrated that pendrin can mediate iodide efflux in heterologous cells. This, together with the thyroid phenotype observed in humans (goiter, impaired iodine organification) suggests that pendrin could be involved in iodide efflux into the lumen, one of the steps required for thyroid hormone synthesis. Iodide efflux can, however, also occur in the absence of pendrin suggesting that other exchangers or channels are involved. It has been suggested that Anoctamin 1 (ANO1/TMEM16A), a calcium-activated anion channel, which is also expressed at the apical membrane of thyrocytes, could participate in mediating apical efflux. In the kidney, pendrin is involved in bicarbonate secretion and chloride reabsorption. While there is no renal phenotype under basal conditions, severe metabolic alkalosis has been reported in Pendred syndrome patients exposed to an increased alkali load. This review provides an overview on the clinical spectrum of Pendred syndrome, the functional data on pendrin with a focus on its potential role in the thyroid, as well as the controversy surrounding the relative physiological roles of pendrin and anoctamin.
Mots-clé
Anoctamin-1/genetics, Goiter, Nodular/diagnosis, Goiter, Nodular/genetics, Goiter, Nodular/metabolism, Goiter, Nodular/physiopathology, Hearing Loss, Sensorineural/diagnosis, Hearing Loss, Sensorineural/genetics, Hearing Loss, Sensorineural/metabolism, Hearing Loss, Sensorineural/physiopathology, Humans, Hypothyroidism/complications, Hypothyroidism/genetics, Hypothyroidism/metabolism, Iodides/metabolism, Iodine/metabolism, Membrane Transport Proteins/genetics, Neoplasm Proteins/genetics, Phenotype, Sulfate Transporters, Syndrome, Thyroid Hormones/metabolism, Pendred syndrome, congenital hypothyroidism, goiter, iodide, sensorineural deafness, thyroid hormone
Pubmed
Web of science
Création de la notice
27/12/2020 13:54
Dernière modification de la notice
28/12/2020 6:26
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