マクロアミラーゼ血症の父子例

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  • Macroamylasemia Detected in a Child and His Father.

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Macroamylasemia was detected in a 4-year-old boy who complained of transient abdominal pain. His pain was relieved, but serum amylase level remained at 800-2000 IU// for 2 years thereafter, and his amylase creatinine clearance ratio (ACCR), 0.09%, was extremely low. Acetate membrane-electrophoresis of serum amylase showed broad abnormal mobility on the anodic side of the salivary (S) -amylase fraction, in addition to only trace pancreatic (P) and S fractions. The amylase elution pattern on a Sephadex G-200 column showed the region of amylase peak activity to be located between those of IgM and IgA-IgG globulin fraction, indicating that the amylase had a molecular structure larger than that of normal amylase. The patient's amylase was immunoprecipitated with anti-human IgA and anti-human A antiserum, IgA was immunopurified with anti-IgA coupled CNBractivated Sepharose 4B beads, and amylase bound to IgA was dissociated under acidic conditions. The IgA refined from the patient formed a complex with purified S-amylase which showed electrophoretic pattern similar to that of his original serum. There was no change in the activity of the patient's amylase under the condition of high temperature at 60°C for 1 hour. In addition, amylase from the patient's father showed the same characteristics as the propositus, although amylase from other members of his family did not.

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