| A Case of Vitamin D-Dependent Rickets, Type 1 |
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Ji Hye Hur1, Chong Guk Lee1, Chung Wook Sur2 |
1Department of Pediatrics, College of Medicine, Inje University, Goyang, Korea
2Department of Pediatrics, College of Medicine, Inje University, Goyang, Korea |
| 제 1형 비타민 D 의존성 구루병 1례 |
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허지혜1, 이종국1, 서정욱2 |
1인제대학교 의과대학 소아과학교실
2인제대학교 의과대학 진단방사선과학교실 |
Correspondence:
Chong Guk Lee, Email: chonglee@ilsanpaik.ac.kr
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| Abstract |
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"Rickets" is the term applied to impaired mineralization at epiphyseal growth plate, resulting in deformity and impaired linear growth of long bones. Rickets may arise as a result of vitamin D deficiency or abnormality in metabolism. Vitamin D-dependent rickets(VDDR) is rare autosomal recessive disorder in which affected individuals have clinical features of vitamin D deficiency. In 1961, Prader first described this disorder including severe clinical features of rickets, such as hypophosphatemia, hypocalcemia, muscle weakness and seizure. Two distinctive hereditary defects, type I VDDR and type II VDDR have been recognized in vitamin D metabolism. Type I VDDR may be due to congenital defects of renal 1 α-hydroxylase, the enzyme responsible for conversion of 25(OH)D3. These patients have low to detectable 1,25(OH)2D3 in presence of normal to raised 25(OH)D3. In type II VDDR, renal production of 1,25(OH)2D3 is intact but 1,25(OH)2D3 is not used effectively and target organ resistant to 1,25(OH)2D3 is respectively derived from the abnormality in the vitamin D receptor. We report a case of a 25 month-old girl with typical clinical features of VDDR type Ⅰ rickets, hypocalcemia, increased alkaline phosphatase and secondary hyperparathyroidism. |
| Key Words:
Prader first described this disorder including severe clinical features of rickets |
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