Journal article
Renal Cysts and Nephrocalcinosis in a Patient Deficient in 11 beta-Hydroxylase Enzyme
Polish journal of radiology, Vol.80(1), pp.379-381
01/01/2015
DOI: 10.12659/PJR.894678
PMCID: PMC4530989
PMID: 26309449
Abstract
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 urineconcentrating 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.
Details
- Title: Subtitle
- Renal Cysts and Nephrocalcinosis in a Patient Deficient in 11 beta-Hydroxylase Enzyme
- Creators
- Yashant Aswani - King Edward Memorial Hospital and Seth G.S. Medical CollegeHemangini Thakkar - King Edward Memorial Hospital and Seth G.S. Medical CollegePriya Hira - King Edward Memorial Hospital and Seth G.S. Medical College
- Resource Type
- Journal article
- Publication Details
- Polish journal of radiology, Vol.80(1), pp.379-381
- Publisher
- Int Scientific Information Inc
- DOI
- 10.12659/PJR.894678
- PMID
- 26309449
- PMCID
- PMC4530989
- ISSN
- 0137-7183
- eISSN
- 1899-0967
- Number of pages
- 3
- Language
- English
- Date published
- 01/01/2015
- Academic Unit
- Radiology
- Record Identifier
- 9984318804902771
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