W dniach od 2 kwietnia do 5 kwietnia 2024 r. prowadzone będą prace związane z wdrożeniem nowej wersji systemu Repozytorium UJ. Nie będzie możliwe wprowadzanie nowych informacji do repozytorium. Za utrudnienia przepraszamy.
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.
Poza zaznaczonymi wyjątkami, licencja tej pozycji opisana jest jako Udzielam licencji. Uznanie autorstwa - Użycie niekomercyjne - Bez utworów zależnych 3.0 Polska