Síndrome de Pendred: una causa de bocio relacionada con sordera
| Autor: | Irene Gonzalo Montesinos, Agueda Muñoz Jiménez, Javier García, Alvaro García-Manzanares Vázquez, Julia Alvarez Hernández, Jose Antonio Rubio García |
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| Rok vydání: | 2009 |
| Předmět: |
Pediatrics
medicine.medical_specialty Goiter biology Hearing loss business.industry Endocrinology Diabetes and Metabolism Thyroid Kidney metabolism Disease Pendrin Organification Apical membrane medicine.disease Endocrinology medicine.anatomical_structure otorhinolaryngologic diseases medicine biology.protein medicine.symptom business |
| Zdroj: | Endocrinología y Nutrición. 56:428-430 |
| ISSN: | 1575-0922 |
| DOI: | 10.1016/s1575-0922(09)72714-7 |
| Popis: | Pendred's syndrome is an autosomal recessive disorder leading to congenital sensorineural hearing loss and a variable degree of goiter due to reduced iodine organification. The cause of this disease is dysfunction of an anion transporter protein located on the apical membrane of thyrocytes, called pendrin, which is also found in the kidney and cochlea. Molecular analysis of the gene is useful to identify other affected family members and provide proper genetic advice and early diagnosis in descendants. We present the cases of two siblings with sensorineural deafness who were diagnosed with Pendred's syndrome as adults because one of them consulted for goiter. |
| Databáze: | OpenAIRE |
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