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Published: 2015-08-05

Renal Cysts and Nephrocalcinosis in a Patient Deficient in 11 beta-Hydroxylase Enzyme

Yashant Aswani, Hemangini Thakkar, Priya Hira

(Department of Radiology, King Edward Memorial Hospital and Seth Gordhandas Sunderdas Medical College, Mumbai, India)

Pol J Radiol 2015; 80:379-381

DOI: 10.12659/PJR.894678

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.

Keywords: Adrenal Hyperplasia, Congenital, Hypertension, Hypokalemia, Nephrocalcinosis

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