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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아내분비학회 Annals of Pediatirc Endocrinology & Metabolism Annals of Pediatirc Endocrinology & Metabolism 제21권 제3호
- 발행연도
- 2016.1
- 수록면
- 169 - 173 (5page)
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초록· 키워드
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Vitamin D hydroxylation-deficient rickets type 1A (VDDR1A) is an autosomal recessively-inherited disorder caused by mutations in CYP27B1 encoding the 1α-hydroxylase enzyme. We report on a female patient with VDDR1A who presented with hypocalcemic seizure at the age of 13 months. The typical clinical and biochemical features of VDDR1A were found, such as hypocalcemia, increased alkaline phosphatase, secondary hyperparathyroidism and normal 25-hydroxyvitamin D3 (25(OH)D3). Radiographic images of the wrist showed metaphyseal widening with cupping and fraying of the ulna and distal radius, suggesting rickets. A mutation analysis of the CYP27B1 gene identified a homozygous mutation of c.589+1G>A in the splice donor site in intron 3, which was known to be pathogenic. Since that time, the patient has been under calcitriol and calcium treatment, with normal growth and development. During the followup period, she did not develop genu valgum, scoliosis, or nephrocalcinosis.
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참고문헌 (20)
참고문헌 신청
Fu GK / 1997 / Cloning of human 25-hydroxyvitamin D-1 alpha-hydroxylase and mutations causing vitamin D-dependent rickets type 1 / Mol Endocrinol 11:1961~1970
Demir K / 2015 / Novel CYP27B1 Gene Mutations in Patients with Vitamin D-Dependent Rickets Type 1A / PLoS One 10:e0131376
Fraser D / 1973 / Pathogenesis of hereditary vitamin-D-dependent rickets. An inborn error of vitamin D metabolism involving defective conversion of 25-hydroxy vitamin D to 1alpha,25-dihydroxyvitamin D / N Engl J Med 289:817~822
Babiker AM / 2014 / A novel pathogenic mutation of the CYP27B1 gene in a patient with vitamin D-dependent rickets type 1: a case report / BMC Res Notes 7:783
Beck-Nielsen SS / 2009 / Incidence and prevalence of nutritional and hereditary rickets in southern Denmark / Eur J Endocrinol 160:491~497
Demir K / 2015 / Novel CYP27B1 Gene Mutations in Patients with Vitamin D-Dependent Rickets Type 1A / PLoS One 10:e0131376
Fraser D / 1973 / Pathogenesis of hereditary vitamin-D-dependent rickets. An inborn error of vitamin D metabolism involving defective conversion of 25-hydroxy vitamin D to 1alpha,25-dihydroxyvitamin D / N Engl J Med 289:817~822
Babiker AM / 2014 / A novel pathogenic mutation of the CYP27B1 gene in a patient with vitamin D-dependent rickets type 1: a case report / BMC Res Notes 7:783
Beck-Nielsen SS / 2009 / Incidence and prevalence of nutritional and hereditary rickets in southern Denmark / Eur J Endocrinol 160:491~497
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