PubMed · 3399310
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T R Welch, C Restrepo de Rovetto, G Hug. 1988. Renal calcification.. https://pubmed.ncbi.nlm.nih.gov/3399310/
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In Familial Hyperaldosteronism Type I (FH-I, glucocorticoid-suppressible hyperaldosteronism), a curable form of hypertension inherited in an autosomal dominant fashion, the underlying genetic defect is a "hybrid gene" in which 11 beta-hydroxylase gene regulatory elements are fused to the coding region of the aldosterone synthase gene. The detection of this hybrid gene by Southern blotting is time consuming and involves the use of radioactive isotopes. We describe a new, long polymerase chain reaction-based method for detecting the hybrid gene which greatly reduces the time required to obtain a result, avoids exposure of laboratory workers to radioactive materials, and will thereby facilitate the screening of patients for the presence of FH-I.
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Most of its clinical manifestations are the result of hypokalemia. The diagnosis is one of exclusion, mainly of surreptitious vomiting and diuretic abuse. The primary cause remains unknown but the most likely candidate is reduced sodium chloride reabsorption in the thick ascending limb of Henle's loop. Current therapy focuses on multiple agents to reduce massive potassium loss.