A Case of Adult Hypophosphatasia with Non-specific Symptoms
10.14442/generalist.45.126
- VernacularTitle:非特異的な症状から診断に至った成人型低フォスファターゼ症の1例
- Author:
Masanori MIZUNO
;
Takamasa ICHIJO
;
Kei MURAYAMA
;
Takuya FUSHIMI
;
Ayano INUI
;
Moe HAYASAKA
;
Kayoko IKEHARA
;
Mariko HIGA
- Keywords:
Hypophosphatasia;
Adult;
Alkaline phosphatase;
Genetic testing
- From:An Official Journal of the Japan Primary Care Association
2022;45(4):126-131
- CountryJapan
- Language:Japanese
-
Abstract:
A 40-year-old female visited our hospital because of malaise. She had no history of early loss of primary teeth nor family history of skeletal dysplasia. Laboratory examination showed low serum alkaline phosphatase levels of 18 U/L. In addition, hypozincemia was also observed, but alkaline phosphatase level did not increase after zinc replacement. Mediators, including calcium and phosphorus metabolism, were within normal range. X-ray examination showed no evidence of osteomalacia, but mineral bone density was slightly decreased compared with the young adult mean. Urine phosphoethanolamine level was increased, and we then suspected hypophosphatasia. Genetic tests detected ALPL gene heterozygous missense mutation (c.529G>A p.Ala177Thr and c.670A>G p.Lys224Glu) and adult-onset hypophosphatasia was finally diagnosed. It is important to evaluate alkaline phosphatase levels in the screening of patients with non-specific symptoms.
