[Familial hyperactivity of angiotensin-converting enzyme (ACE)].
An extremely high level of serum angiotensin-converting enzyme (ACE) activity was found in eight individuals, women aged 31, 60, 42 and 67 years, and men aged 50, 47, 23 and 50 years. They had consulted a specialist due to a wide range of non-specific complaints or abnormalities (fatigue, dyspnoea, arthralgia, kidney stones with high urinary calcium, neurological symptoms and an elevated blood alkaline phosphatase activity level). As each of these complaints could be a symptom of sarcoidosis, the ACE activity was measured. However, sarcoidosis was not diagnosed in any of these patients. A subsequent analysis revealed that all eight individuals had family members with a similar elevation of ACE. Therefore, the increase in ACE activity was familial. Patients with this disorder have serum ACE levels of between 3 and 7 times the upper limit of normal, whereas in the case of sarcoidosis, serum ACE levels rarely exceed three times this limit. Familial ACE hyperactivity is not accompanied by clinical symptoms. It is caused by a point mutation in the ACE gene, which results in the cell-bound ACE being more readily loosened from the cell surface into the circulatory system.
Kramers
C
C
Afd. Algemene Interne Geneeskunde, Universitair Medisch Centrum St Radbound, Postbus 9101, 6500 HB Nijmegen. c.kramers@pharmtox.umcn.nl
Adema
G J
GJ
Korte
M
M
Deinum
J
J
D000328:Adult; D000368:Aged; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D008875:Middle Aged; D010375:Pedigree; D007703:Peptidyl-Dipeptidase A / Q000235:genetics* / Q000378:metabolism; D017354:Point Mutation; D012507:Sarcoidosis / Q000175:diagnosis / Q000201:enzymology
D007703:Peptidyl-Dipeptidase A