지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2020.1
- 수록면
- 26 - 30 (5page)
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초록· 키워드
오류제보하기
Hypophosphatasia is a rare disease characterized by defective bone mineralization due to deficiency of tissue-nonspecific alkaline phosphatase. The patient was an 8-day-old male infant who presented with seizure since that day. Other symptoms included respiratory failure, requiring the use of a mechanical ventilator. Physical examination revealed a large bulging anterior fontanelle, soft skull bone, and radial deviation of both wrists. Laboratory examination showed normal serum calcium, low parathyroid hormone, normal 25-hydroxy vitamin D, and severely low alkaline phosphatase levels. Skeletal X-ray revealed dysplasia of the skull and cupping of the epiphysis of the limbs. Two heterozygous mutations (c.1052A>G, c.1559delT) of the ALPL gene were identified by Sanger sequencing. Thus, we report a case of confirmed lethal perinatal hypophosphatasia in Korea.
목차
등록된 정보가 없습니다.
참고문헌 (16)
참고문헌 신청
Mornet E / 2007 / Hypophosphatasia / Orphanet J Rare Dis 2:40
Mornet E / 2017 / Genetics of hypophosphatasia / Arch Pediatr 24:5S51~5S56
Michigami T / 2005 / Common mutations F310L and T1559del in the tissuenonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia / Eur J Pediatr 164:277~282
Riancho-Zarrabeitia L / 2016 / Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults / Eur J Intern Med 29:40~45
Mornet E / 2011 / A molecular-based estimation of the prevalence of hypophosphatasia in the European population / Ann Hum Genet 75:439~445
Mornet E / 2017 / Genetics of hypophosphatasia / Arch Pediatr 24:5S51~5S56
Michigami T / 2005 / Common mutations F310L and T1559del in the tissuenonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia / Eur J Pediatr 164:277~282
Riancho-Zarrabeitia L / 2016 / Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults / Eur J Intern Med 29:40~45
Mornet E / 2011 / A molecular-based estimation of the prevalence of hypophosphatasia in the European population / Ann Hum Genet 75:439~445
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