Pendred syndrome
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| Pendred syndrome Classification and external resources | |
| OMIM | 274600 |
|---|---|
| DiseasesDB | 9771 |
Pendred syndrome or Pendred disease is a genetic disorder leading to bilateral (both sides) sensorineural hearing loss and goitre with occasional hypothyroidism. It inherits in an autosomal recessive manner. It may account for 1-10% of all inherited causes of deafness.
It has been linked to mutations in the PDS gene, which codes for the pendrin protein (solute carrier family 26, member 4, SLC26A4). The gene is located on the long arm of chromosome 7 (7q31). Mutations in the same gene also cause enlarged vestibular aqueduct syndrome, another congenital cause of deafness.
Eponym
The disease is named after Dr Vaughan Pendred (1869-1946), the English general practitioner who first described the syndrome in 1896.[1]
Diagnosis
The syndrome is diagnosed by:
- A family history of a similar condition;
- Thyroid hormones and TSH levels within normal range;
- FNAC;
- Chromosomal analysis;
- Abnormal perchlorate discharge test.[1]
Reference
External links
- Pendred Syndrome Information from the National Institutes of Health (NIH).
- Enlarged Vestibular Aqueducts Information from the National Institutes of Health (NIH).
fr:Syndrome de Pendred nl:Pendred syndroomfi:Pendredin oireyhtymä
Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
