If Hoofbeats are not From Horses, It Could be Zebras!! Isolated Hyper-alkaline Phosphatasemia
作者： Mahak Chauhan , David H. Alpers , James P. Hamilton , Paul J. Thuluvath
DOI: 10.1016/J.JCEH.2020.12.001
关键词:
摘要: Alkaline phosphatase (AP) is a membrane bound enzyme and when it elevated in blood, mostly due to either hepatobiliary or bone diseases. We report isolated intestinal hyperphosphatasemia (IAP) two sisters. Both sisters presented with identical trends of AP elevation. underwent extensive workup for liver diseases including cholangiograms, none was identified. Subsequent isoenzyme electrophoresis showed that 45%–56% the IAP. This elevation consistent rare hereditary biochemical abnormality, benign familial hyperphosphatemia. condition should be considered differential diagnosis otherwise serum levels avoid unnecessary investigations.
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