[Asymptomatic elevation of plasmatic alkaline phosphatases secondary to benign familial hyperphosphatasemia in a patient].
We report a 33 years old male consulting for abdominal pain. Initial diagnostic work up showed high levels of alkaline phosphatases, that were confirmed in a new blood sample. Using electrophoresis, total alkaline phosphatases were 198 U/l (normal values = 30-117) and the bone fraction was 101 U/l (normal values = 0.35). Bone scintiscan and endocrinological assessment were normal. One year later, the same values persisted. Studying the family, three of four brothers had the same alterations in alkaline phosphatases. It was concluded that these subjects had the rare condition known as benign familial hyperphosphatasemia.
González
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Departamento de Endocrinología, Metabolismo y Nutrición, Facultad de Medicina, Universidad Católica de Chile, Santiago de Chile.
Cárdenas
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IE
D000328:Adult; D000469:Alkaline Phosphatase / Q000097:blood* / Q000235:genetics; D002648:Child; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree
D000469:Alkaline Phosphatase