１カ月健診の体重増加不良を契機に発見された乳児型低ホスファターゼ症の１例

概要

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Hypophosphatasia is a hereditary autosomal recessive disease characterized by a defect in tissuenonspecific alkaline phosphatase (TNSALP) activities. A one-month-old boy showed poor weight gain. His body weight and height were 3,202 g (-2.7SD) and 53 cm (-1.4SD), respectively, 7 weeks after birth. Serum calcium level was very high with a value of 17.6 mg/dl. Serum alkaline phosphatase level was 30 IU/l, while bone-type ALP was undetectable. Urine phosphoethanolamine, one of the substrates of ALP, was 3,056.8 nmol/mgCr. Urine Ca/Cr ratio was 1.4. Radiological findings showed osteopenia of cranial bones and irregular ossification of metaphyses of long bones. He was diagnosed with infantile type hypophosphatasia. He was treated with diuretics, a low Ca diet and calcitonin to decrease his serum calcium level. Appropriate body weight gain was not achieved even after the serum Ca level improved. He repeatedly suffered respiratory tract infection and died from pneumonia at 6-months.Analysis of TNSALP gene of the patient revealed compound heterozygous mutations of K207E and T1559del.
信州医学会の論文
2007-12-10