Renal cysts and nephrocalcinosis in 11 beta-hydroxylase deficiency
نویسندگان
چکیده
منابع مشابه
Renal Cysts and Nephrocalcinosis in a Patient Deficient in 11 beta-Hydroxylase Enzyme
BACKGROUND Chronic hypokalemia is known to induce renal structural and functional abnormality. The former includes induction of renal cyst formation and interstitial fibrosis while the latter entails urine-concentrating defect. However, these hypokalemia-mediated changes occur in a handful of conditions including primary aldosteronism, distal renal tubular acidosis, Liddle's disease, apparent m...
متن کاملCongenital adrenal hyperplasia with 11 beta-hydroxylase deficiency.
A rare form of congenital adrenal hyperplasia (CAH), 11 beta-hydroxylase deficiency, may be misdiagnosed as 21-hydroxylase deficiency, the most common form of CAH, because of similar clinical presentations at times and elevated level of 17-hydroxyprogesterone in both conditions. We report a case of 11 beta-hydroxylase deficiency that was originally misdiagnosed as 21-hydroxylase deficiency. Hyp...
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Dopamine beta-hydroxylase (DbetaH) deficiency is a very rare form of primary autonomic failure characterized by a complete absence of noradrenaline and adrenaline in plasma together with increased dopamine plasma levels. The prevalence of DbetaH deficiency is unknown. Only a limited number of cases with this disease have been reported. DbetaH deficiency is mainly characterized by cardiovascular...
متن کاملTesticular Adrenal Rest Tumor in 11-Beta-Hydroxylase Deficiency Driven Congenital Adrenal Hyperplasia
Testicular adrenal rest tumors (TART) occur often as asymptomatic nodules in corticotropin-dependent lesions aberrant adrenal tissue in congenital adrenal hyperplasia (CAH) patients. The present manuscript is about an unusual case of a 16-year-old CAH patient due to 11β-hydroxylase deficiency. He underwent testicle biopsy because of testicle tumor suspicion and diagnosed with TART.
متن کاملSalt loss in congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency.
Nine patients with 11 beta-hydroxylase deficiency had 13 episodes of gastroenteritis requiring hospital admission and fluid administration. Eight episodes were accompanied by hyponatraemia and salt loss. The salt losing patients were treated with excessive glucocorticoid and those with normal serum sodium concentrations were treated with inadequate glucocorticoid. Excessive glucocorticoid suppr...
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ژورنال
عنوان ژورنال: Indian Journal of Nephrology
سال: 2017
ISSN: 0971-4065
DOI: 10.4103/ijn.ijn_327_16