A case of benign familial hyperphosphatasemia of intestinal origin.
We recently encountered a case of hyperphosphatasemia, in which > 90% of serum alkaline phosphatase (ALP) was of intestinal origin. The patient, a 51-year-old man, was found to have hyperphosphatasemia (2,341 U/L) during a routine medical check-up. All other laboratory tests and physical findings were normal. The agarose gel electrophoresis pattern of the patient's serum ALP was identical to that of common intestinal ALP from healthy adults, and only a single band of intestinal ALP was detected by immunoaffinity electrophoresis. In addition, 89% of total ALP was defined as intestinal ALP by an immunoprecipitation method. The molecular mass of the ALP was 154 kDa, almost identical with that of adult duodenal ALP. Analysis of the sugar chain structure showed an increased la fraction (74%) compared with adult duodenal ALP. Genealogical study revealed that two persons in the 5 members of the proband's family had hyperphosphatasemia of intestinal origin, indicating possible autosomal dominant inheritance.
Hoshino
T
T
Department of Clinical Pathology, Nihon University School of Medicine, Tokyo, Japan.
Kumasaka
K
K
Kawano
K
K
Yamagishi
F
F
Sakai
H
H
Komoda
T
T
D000328:Adult; D000368:Aged; D000469:Alkaline Phosphatase / Q000097:blood* / Q000737:chemistry; D005260:Female; D006801:Humans; D007422:Intestines / Q000201:enzymology*; D007527:Isoenzymes / Q000097:blood; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D008875:Middle Aged; D008970:Molecular Weight; D010375:Pedigree
D007527:Isoenzymes; D000469:Alkaline Phosphatase