Hypophosphatasia (HPP) is an inherited skeletal disease caused by mutation of the gene encoding tissue non-specific alkaline phosphatase (TNSALP). Odonto-HPP is well known as the mildest of HPP. The manifestations inv...Hypophosphatasia (HPP) is an inherited skeletal disease caused by mutation of the gene encoding tissue non-specific alkaline phosphatase (TNSALP). Odonto-HPP is well known as the mildest of HPP. The manifestations involve only the teeth, such as premature primary teeth exfoliation caused by reduction of alveolar bone, enlarged dental pulp chamber, and dental defects. We report a case of a 9-years-old boy who developed HPP. He was observed from the primary dentition to the mixed dentition period. At initial presentation at our hospital, he had multiple premature exfoliation of primary teeth and reduction of the alveolar bone. HPP was suspected due to the low level of ALP activity in serum, his oral manifestation, and dental history. He was referred to a physician for the final diagnosis. Therefore his compound heterozygote mutations, c.1559 delT (T/delT) and c.407G > A (G/A), were found in TNSALP and he diagnosed with odonto-HPP. Even though these mutations were reported as being involved in odonto-HPP, his mineral densities tended to be lower than that of his age. It is therefore necessary to investigate the bone mineralization level in odonto-HPP without other bone symptoms. Moreover, ongoing enzyme-replacement therapy in odonto-HPP might improve dental abnormality and bone disorders.展开更多
文摘Hypophosphatasia (HPP) is an inherited skeletal disease caused by mutation of the gene encoding tissue non-specific alkaline phosphatase (TNSALP). Odonto-HPP is well known as the mildest of HPP. The manifestations involve only the teeth, such as premature primary teeth exfoliation caused by reduction of alveolar bone, enlarged dental pulp chamber, and dental defects. We report a case of a 9-years-old boy who developed HPP. He was observed from the primary dentition to the mixed dentition period. At initial presentation at our hospital, he had multiple premature exfoliation of primary teeth and reduction of the alveolar bone. HPP was suspected due to the low level of ALP activity in serum, his oral manifestation, and dental history. He was referred to a physician for the final diagnosis. Therefore his compound heterozygote mutations, c.1559 delT (T/delT) and c.407G > A (G/A), were found in TNSALP and he diagnosed with odonto-HPP. Even though these mutations were reported as being involved in odonto-HPP, his mineral densities tended to be lower than that of his age. It is therefore necessary to investigate the bone mineralization level in odonto-HPP without other bone symptoms. Moreover, ongoing enzyme-replacement therapy in odonto-HPP might improve dental abnormality and bone disorders.
