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Renal cysts and nephrocalcinosis in a patient deficient in 11 beta-hydroxylase enzyme
adrenal hyperplasia
congenital
hypertension
hypokalemia
nephrocalcinosis
Bibliogr. s. 381
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 mineralocorticoid excess syndrome and Bartter's type 3 syndrome. Such a finding has never been described in an 11 beta-hydroxylase deficient individual. CASE REPORT: We describe a case of a 15-year-old male, deficient in 11 beta-hydroxylase enzyme, presenting with hypertensive haemorrhage in basal ganglia and chronic hypokalemia-mediated nephrocalcinosis and renal cysts. To add to the uniqueness, our patient was discovered to harbour bilateral testicular adrenal rests as well. CONCLUSIONS: An early diagnosis could help prevent these sequelae and preserve long-term renal function and safeguard against ill-effects of hypertension. Besides, aetiology of nephrocalcinosis should be sought for and corrected.
dc.abstract.en | 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 mineralocorticoid excess syndrome and Bartter's type 3 syndrome. Such a finding has never been described in an 11 beta-hydroxylase deficient individual. CASE REPORT: We describe a case of a 15-year-old male, deficient in 11 beta-hydroxylase enzyme, presenting with hypertensive haemorrhage in basal ganglia and chronic hypokalemia-mediated nephrocalcinosis and renal cysts. To add to the uniqueness, our patient was discovered to harbour bilateral testicular adrenal rests as well. CONCLUSIONS: An early diagnosis could help prevent these sequelae and preserve long-term renal function and safeguard against ill-effects of hypertension. Besides, aetiology of nephrocalcinosis should be sought for and corrected. | pl |
dc.contributor.author | Aswani, Yashant | pl |
dc.contributor.author | Thakkar, Hemangini | pl |
dc.contributor.author | Hira, Priya | pl |
dc.date.accessioned | 2017-07-17T11:06:58Z | |
dc.date.available | 2017-07-17T11:06:58Z | |
dc.date.issued | 2015 | pl |
dc.date.openaccess | 0 | |
dc.description.accesstime | w momencie opublikowania | |
dc.description.additional | Bibliogr. s. 381 | pl |
dc.description.physical | 379-381 | pl |
dc.description.version | ostateczna wersja wydawcy | |
dc.description.volume | 80 | pl |
dc.identifier.doi | 10.12659/PJR.894678 | pl |
dc.identifier.eissn | 1899-0967 | pl |
dc.identifier.issn | 1733-134X | pl |
dc.identifier.uri | http://ruj.uj.edu.pl/xmlui/handle/item/42852 | |
dc.language | eng | pl |
dc.language.container | eng | pl |
dc.rights | Udzielam licencji. Uznanie autorstwa - Użycie niekomercyjne - Bez utworów zależnych 3.0 Polska | * |
dc.rights.licence | CC-BY-NC-ND | |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/3.0/pl/legalcode | * |
dc.share.type | otwarte czasopismo | |
dc.subject.en | adrenal hyperplasia | pl |
dc.subject.en | congenital | pl |
dc.subject.en | hypertension | pl |
dc.subject.en | hypokalemia | pl |
dc.subject.en | nephrocalcinosis | pl |
dc.subtype | Article | pl |
dc.title | Renal cysts and nephrocalcinosis in a patient deficient in 11 beta-hydroxylase enzyme | pl |
dc.title.journal | Polish Journal of Radiology | pl |
dc.type | JournalArticle | pl |
dspace.entity.type | Publication |
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