Life-threatening metabolic alkalosis in Pendred syndrome
نویسندگان
چکیده
منابع مشابه
Life-threatening metabolic alkalosis in Pendred syndrome
INTRODUCTION Pendred syndrome, a combination of sensorineural deafness, impaired organification of iodide in the thyroid and goitre, results from biallelic defects in pendrin (encoded by SLC26A4), which transports chloride and iodide in the inner ear and thyroid respectively. Recently, pendrin has also been identified in the kidneys, where it is found in the apical plasma membrane of non-α-type...
متن کاملLife-threatening neurological syndrome in Down's syndrome.
Accepted 19 November 1997 This 19-year-old girl was the full-term product of an uncomplicated pregnancy and normal delivery, diagnosed at birth as having Down's syndrome (karyotype: 47, +21). Developmental milestones were mildly delayed, she had characteristic phenotype, an uncorrected atrial septal defect, and mild mental retardation. She showed excellent sitting balance and walked with both h...
متن کاملPENDRED\'S SYNDROME REVISITED
Pendred's syndrome is defined as a triad of congenital perceptive hearing loss, goiter, and abnormal perchlorate test. Three brothers with Pendred's syndrome [P.S.] are reported. The oldest brother has hearing loss (he has been deaf and mute since childhood) and has a large goiter. A thyroid scan revealed euthyroid multinodular goiter and a perchlorate test was performed, and reported abno...
متن کاملPendred syndrome in Tunisia.
OBJECTIVES We report a clinical and genetic study of three consanguineous Tunisian families affected by Pendred syndrome. PATIENTS AND METHODS Three families from the south of Tunisia were identified as affected by Pendred syndrome. The patients and their families underwent ENT and general examination and audiovestibular and radiological tests. Molecular DNA analysis was performed by the Sfax...
متن کاملMetabolic alkalosis in coliform mastitis.
Values of blood gas, serum chloride, and potassium were tabulated for 21 dairy cows with coliform mastitis. Severe cases showed marked clinical signs such as loss of appetite and depression of digestive tract motility, and metabolic alkalosis such as an increase in blood pH, hypochloremia and hypokalemia compared with normal and mild cases (p < 0.01). The results showed that metabolic alkalosis...
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ژورنال
عنوان ژورنال: European Journal of Endocrinology
سال: 2011
ISSN: 0804-4643,1479-683X
DOI: 10.1530/eje-11-0101