Examinamos as características da síndrome de Pendred em 41 indivíduos pertencentes a uma família nordestina com elevado grau de endogamia. A nova . 19 Oct Pendred syndrome/nonsyndromic enlarged vestibular aqueduct (PDS/NSEVA) comprises a phenotypic spectrum of sensorineural hearing loss. 6 Mar Pendred syndrome is a genetic disorder that causes early hearing loss in children. It also can affect the thyroid gland and sometimes creates.
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Variants listed in the table have been provided by the author. Pendfed, a paired domain-containing protein, binds to a sequence overlapping the recognition site of a homeodomain and activates transcription from two thyroid-specific promoters.
Sindrome di Pendred
This confirmed that at least 1 further step is required for complete organification of iodide within the thyroid. The following points are noteworthy: The interaction of pendrin and the epithelial sodium channel in blood pressure regulation.
O estudo de Vilain e cols. Review SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct. More detailed information for clinicians ordering pendreed tests can be found here.
Although a positive perchlorate test indicates thyroid dishormonogenesis, it is not helpful to indicate the exact nature sindtome the molecular defect. The reasons for the characteristic hearing phenotype are probably related to the functions of pendrin in the inner ear, where it is presumed to participate in the formation and resorption of the endolymph.
Comprehensive genetic testing in the clinical evaluation of patients with hearing loss. Phillips, III – updated: CT of the ear in Pendred syndrome.
The presence of both cochlear hypoplasia and EVA is known sindrome de pendred a Mondini malformation or dysplasia. In the kidney, it participates in the secretion of ce. Views Read Edit View history. The proband was a year-old deaf Brazilian woman who presented a bulky sindromr goiter and hypothyroidism since puberty. At-risk relatives should be evaluated for hearing loss, vestibular dysfunction, and thyroid abnormality in the same manner as an affected individual at initial diagnosis see Evaluations Following Initial Diagnosis.
Pendred syndrome – Wikipedia
This section is not meant to address all personal, cultural, or ethical issues that individuals may face or to substitute for consultation with sindroe genetics professional. The definite diagnosis requires molecular analysis. Overall, biallelic mutations were found in only 2. Autoimmune thyroid diseases, including Graves’ disease, Hashimoto thyroiditis, and primary idiopathic myxedema, are caused by multiple genetic and environmental factors.
However, in PS patients, no acid-base disturbances have been noted, under physiological conditions.
Sindrome di Pendred – Wikipedia
SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct. The clinical diagnosis of Pendred syndrome is established in a proband with SNHL, characteristic temporal bone abnormalities identified on thin-cut CT, and euthyroid goiter.
Approach to molecular genetic testing. They found 9 patients with Pendred syndrome or nonsyndromic EVA who were heterozygous for a novel T-C mutation Genotype-phenotype correlations for SLC26A4-related deafness. Euthyroid goiter, the typical thyroid defect of Pendred syndrome resulting psndred an organification defect of iodide, can be detected by volumetric studies to assess thyroid size; however, the ability to document thyroid enlargement depends on the method used to assess thyroid size.
In patients with the latter disease, thyroid function is normal. The proband was the third of 11 siblings. Previous studies have shown a role in mediating bicarbonate secretion and in the regulation of acid-base transport in the renal sindome duct The mother was healthy, except for subclinical hypothyroidism; the father was deceased.
Neuro-otological findings in Pendred syndrome. Sindromf audiological phenotype typically seen in PS is that of a profound hearing loss, with prelingual onset and a progressively worsening siindrome 3,6,21, Other population groups also have unique diverse pathogenic variants reflecting a few prevalent founder variants: Revision History 19 October bp Comprehensive update posted live.
Deficiency of the interscalar septum in the distal coils of the cochlea Mondini deformity was found to be common but probably not a constant feature of Pendred syndrome.
J Clin Endocrinol Metab ;84 7: NSEVA is characterized by sensorineural hearing impairment in the absence of other obvious abnormalities i. The authors raised the possibility that Pendred syndrome maps to 8qqter. McKusick noted a possible relationship between progression of deafness and sinndrome occurrence of trauma.