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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2019.1
- 수록면
- 111 - 115 (5page)
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초록· 키워드
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Vitamin D dependent rickets type 1A (VDDR1A) is an autosomal recessive disorder caused by mutations in CYP27B1 . Clinical findings are growth retardation, hypotonia, muscle weakness, hypocalcemic seizures, and radiological features of rickets. We aimed to present the VDDR1A case with a genetic study of CYP27B1 . The 14- month-old boy was admitted to the hospital due to a seizure. Serum calcium, phosphorus, alkaline phosphatase, parathyroid hormone (PTH), 25(OH) vitamin D, and 1,25(OH)2 vitamin D values were 5.1 mg/dL, 3.7 mg/dL, 705 IU/L, 429 pg/mL, 24.9 ng/mL, and 8.8 pg/mL, respectively. Radiological study showed cupping and fraying of the distal ulna and radius. The molecular genetic study revealed that the patient had a compound heterozygous mutation, Phe443Profs*24 and c.589+ 1G>A, in CYP27B1 . Genetic analysis of the family members presented that the mother was heterozygous for the mutation c.589+1G>A, and that the father was heterozygous for Phe443Profs*24. The patient was treated with calcium lactate and calcitriol. Until now, six Korean patients with VDDR1A have been studied. Including this case, Korean patients with VDDR1A were found to have only three different mutations in 14 alleles, indicating that the mutation in the CYP27B1 gene is homogeneous in the Korean population.
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참고문헌 (20)
참고문헌 신청
Miller WL / 2000 / Vitamin D 1α-hydroxylase / Trends Endocrinol Metab 11:315~319
Portale AA / 2003 / Pediatric bone / Academic Press :583~598
Portale AA / 2000 / Human 25-hydroxyvitamin D 1α-hydroxylase : cloning, mutations, and gene expression / Pediatr Nephrol 14:620~625
Breslau NA / 1988 / Normal and abnormal regulation of 1, 25(OH)2D synthesis / Am J Med Sci 296:417~425
Kumar R / 1976 / Metabolism of 1, 25-dihydroxy vitamin D3 : evidence for side-chain oxidation / Biochemistry 15:2420~2423
Portale AA / 2003 / Pediatric bone / Academic Press :583~598
Portale AA / 2000 / Human 25-hydroxyvitamin D 1α-hydroxylase : cloning, mutations, and gene expression / Pediatr Nephrol 14:620~625
Breslau NA / 1988 / Normal and abnormal regulation of 1, 25(OH)2D synthesis / Am J Med Sci 296:417~425
Kumar R / 1976 / Metabolism of 1, 25-dihydroxy vitamin D3 : evidence for side-chain oxidation / Biochemistry 15:2420~2423
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