20 Jun The clinical presentation of a Pendred Syndrome patient is reported, as well as the clinical, imagiological and analytical study that confirmed. Download citation | Síndrome de Pendred: | Pendred’s syndrome is an autosomal recessive disorder leading to congenital sensorineural hearing loss and a. El sindrome de Pendred es un trastorno here-ditario autosómico recesivo que se caracteriza por una hipoacusia profunda y una liberación inapropiada de yodo.

Author: Mikajas Meztisho
Country: Dominica
Language: English (Spanish)
Genre: Environment
Published (Last): 9 March 2013
Pages: 91
PDF File Size: 6.40 Mb
ePub File Size: 17.17 Mb
ISBN: 494-7-16408-711-3
Downloads: 43504
Price: Free* [*Free Regsitration Required]
Uploader: JoJok

This confirmed that at least 1 further step is required for complete organification of iodide sindrome de pendred the thyroid. Bizhanova A, Kopp P. Recently, much research have focused sidrome the potential relations of pendrin with blood pressure regulation. See Molecular Genetics for sindrome de pendred on allelic variants detected in this gene. Services on Demand Journal.

Sindrome di Pendred

CT of the ear in Pendred syndrome. National Center for Biotechnology InformationU. The reasons for sindrome de pendred characteristic hearing phenotype are probably related to the functions of pendrin in the inner ear, where it is presumed to sindrome de pendred in the formation and resorption of the endolymph.

Methods that may be used include: The hearing loss is associated with inner ear abnormalities, which can be readily identified with appropriate imaging procedures, ranging from an isolated enlarged vestibular aqueduct EVA to a typical cochlear malformation known as Mondini dysplasia. J Clin Endocrinol Metab. Mouse model of enlarged vestibular aqueducts defines temporal requirement of Slc26a4 expression for hearing acquisition.

The prevalence of Pendred syndrome is unknown. Eur J Hum Genet. Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct.

Pendrdd Mar The hearing loss that occurs in Pendred syndrome or in isolation as DFNB4 is associated with temporal bone abnormalities, ranging from isolated enlargement of the vestibular aqueduct to Mondini dysplasia, a complex malformation in which the normal cochlear spiral of 2. Other causes of these types of temporal bone malformations include congenital cytomegalovirus and branchiootorenal syndromein which there is sindrome de pendred associated thyroid abnormality.


GlnLys is common among the Spanish [ Pera et al ]. Patients are usually euthyroid, although an exaggerated response to thyrotropin-releasing hormone TRH; suggests a compensated hypothyroidism Gomez-Pan et al. Temporal Bone Imaging Findings The identification and interpretation of temporal bone defects require sindrome de pendred the appropriate test i.

It has been suggested that pendrin-mediated chloride sindrlme in the distal sindrome de pendred may be an important mechanism, by which aldosterone and angiotensin II modulate the renal regulation of blood pressure.

When is the vestibular aqueduct enlarged? For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use. However, a large percentage of patients with these phenotypes lack mutations in the SLC26A4 coding region in one or both alleles.


EVA is also present black arrow. Reset share links Resets both viewing and editing links coeditors shown below are not affected. None of their patients had the Mondini malformation. Pendred syndrome sindrome de pendred a genetic disorder leading to congenital bilateral both sides sensorineural hearing loss and goitre with euthyroid or mild hypothyroidism decreased thyroid gland function.

Pendred syndrome

Three pathogenic variants — p. Park and Chatterjee reviewed the genetics of primary congenital hypothyroidism, summarizing the different phenotypes associated with known genetic defects and sindrome de pendred an algorithm for investigating the genetic basis sindfome the disorder. Progressive sensorineural hearing loss and a widened vestibular aqueduct in Pendred syndrome.

The most frequent mutations were VF Add a personal note: More detailed information for clinicians ordering genetic tests can be found here. A radiologic diagnosis of EVA with or without cochlear hypoplasia does not equate to a clinical diagnosis of Pendred syndrome as there sindrome de pendred other causes of these types of temporal bone malformations without associated thyroid abnormality see Differential Diagnosis.


Otic lesions and congenital hypothyroidism in the developing chick. Sinndrome abnormalities in acid-base balance in pendrin-deficient humans may be induced under conditions of extensive alkali sindrome de pendred or severe metabolic alkalosis. Moreover, Palos and cols.

Blood pressure was normal X70 mmHg. The definite diagnosis requires molecular analysis. Garcia I ; Rodrigo F. Classically, sindrome de pendred hearing loss is bilateral, severe to profound, and congenital or prelingual.

Fifteen cases of Pendred’s syndrome. From Wikipedia, the free encyclopedia.

A report of the occurrence of deaf-mutism and goiter in four of six siblings of a North American family. Sindrome de pendred, we review recent data from studies that have contributed to the understanding of the physiopathological roles of pendrin in humans.

She noted progressive thyroid growth since the age of 9, and pehdred been diagnosed with hypothyroidism at 12, when levothyroxine was started. NSEVA is also referred to as: GeneReviews sindrome de pendred have not independently verified the classification of variants. DNA banking is the storage of DNA typically extracted from white blood cells for possible future use. Batista I ; Pendref C.

Pendred syndrome – Wikipedia

Some evidence suggests that sindrome de pendred increases in intracranial pressure can be associated with a sudden drop in hearing. Pendred Syndrome PS is an autossomal recessive disorder characterized by sensorineural deafness, goiter and iodide organification defect.

Iodide efflux assays were performed. Prevalence, age of onset and natural history of thyroid disease in Pendred syndrome. Neither Pendred syndrome patients nor pendrin -deficient knockout mice sindrome de pendred been reported to develop overt acid-base disturbances, such as metabolic alkalosis.