Hereditary hyper-ACE-emia due to the Pro1199Leu mutation of somatic ACE as a potential pitfall in diagnosis: a first family outside Europe
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Alexander Semmler
Abstract
Elevated plasma levels of angiotensin converting enzyme (ACE) are associated with granulomatous diseases. However, several families of autosomal dominant hyper-ACE-emia without disease association have already been reported. Recently, the ACE mutation c.3705C>T (Pro1199Leu) was identified as the genetic correlate in European cases of asymptomatic autosomal dominant hyper-ACE-emia. Here, we describe a first family outside Europe with asymptomatic autosomal-dominant hyper-ACE-emia due to the ACE Pro1199Leu mutation. Benign autosomal-dominant hyper-ACE-emia should be considered for differential diagnosis of elevated ACE levels worldwide.
Clin Chem Lab Med 2006;44:1088–9.
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©2006 by Walter de Gruyter Berlin New York
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