Hereditary hyper-ACE-emia due to the Pro1199Leu mutation of somatic ACE as a potential pitfall in diagnosis: a first family outside Europe.

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.

journal_name

Clin Chem Lab Med

authors

Semmler A,Stein RW,Caplan L,Danilov SM,Klockgether T,Linnebank M

doi

10.1515/CCLM.2006.200

subject

Has Abstract

pub_date

2006-01-01 00:00:00

pages

1088-9

issue

9

eissn

1434-6621

issn

1437-4331

journal_volume

44

pub_type

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