일측성 신장 무형성을 동반한 제 1형비타민 D 의존성 구룻병 1례
A Case of Type I Vitamin D-dependent Rickets withUnilateral Aplasia of Kidney
0
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
저자들은 특별한 가족력이 없으면서 저칼슘혈증, 저인산혈증, 경련, 혈청 알칼리성 인산분해효소의 증가, 1,25-(OH)2 비타민 D3 농도의 감소, 혈청 부갑상선 호르몬 농도의 증가 및 방사선 소견상 전형적인 구룻병 병소의 소견을 보인 제 1형 비타민 의존성 구룻병 환아에서 일측성 신장 무형성증이 동반되어 있었던 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.
Abstract
Vitamin D-dependent rickets(VDDR) is a rare autosomal disorder, characterized by hypocalcemia, hypophosphatemia, increased alkaline phosphatase, secondary hyperparathyroidism and many other clinical features. Type I VDDR is due to congenital defects of renal 1α-hydroxylase, the enzyme responsible for the conversion of 25-(OH)D3 to 1,25-(OH)2D3. Type II VDDR arise from target organ resistance to 1,25-(OH)2D3. Unilateral renal aplasia is generally thought to result from a lack of induction of the metanephric blastema from the ureteral bud, which may be secondary to ureteral bud maldevelopment and/or to a problem with the formation of the mesonephric duct. The incidence of unilateral renal aplasia is approximately 1/500-3,200. Type 1 VDDR associated with unilateral renal aplasia has not been reported yet. Thus we report a case of a 3 month old female infant diagnosed as type 1 VDDR with unilateral aplasia of kidney.
참고문헌 (15)
- Prader A, "Eline besonderer From der primaren vitamin D resistenten Rachitis mit hypocalcemie und autosomal dominanten Erbang:Die hereditare Pseudo-Mangelrachitis", Helv Paediatr Acta, 16, pp.452~468 (1961)
- Fraser D, "Pathogenesis of hereditary vitamin D-dependent rickets: an inborn error of vitamin D metabolism involving defective conversion of 25 hydroxyvitamin D to 1 alpha 1,25 dihydroxyvitamin D", N Engl J Med, 289, pp.817~822 (1973)
- Scriver CR, "Serum 1,25-dihydroxyvitamin D levels in normal subjects and in patients with hereditary rickets or bone disease", N Engl J Med, 299, pp.976~979 (1978)
- Hwang SJ, "Type I Vit D-dependent rickets", J Korean Pediatr Soc, 41, pp.877~882 (1998)
- Rajesh Yalavarthy, "Congenital renal agenesis: a review", Saudi J kidney Dis Transplant, 14, pp.336~341 (2003)
- Kiprov DD, "Focal and segmental glomerulosclerosis and proteinuria associated with unilateral renal agenesis", Lab Invest, 46, pp.275~281 (1982)
- Roodhooft AM, "Familial nature of congenital absence and severe dysgenesis of both kidneys", N Engl J Med, 310, pp.1341~1345 (1984)
- 유용덕, "형제에서 발견된 일측 신장 무형성", 대한비뇨기과학회지, 47(9), pp.1019~1021 (2006), 대한비뇨기과학회
- Parikh CR, "Congenital renal agenesis: case control analysis of birth characteristics", AM J Kidney Dis, 39, pp.689~694 (2002)
- Silver J, "Vitamin D dependent rickets type I and II: diagnosis and response to therapy", Isr J Med Sci, 21, pp.53~56 (1985)
- Ladhani S, "Presentation of vitamin D deficiency", Arch Dis Child, 89, pp.781~784 (2004)
- Singh J, "The investigation of hypocalcemia and rickets", Arch Dis Child, pp.403~407 (2003)
- Hewison M, "1α-hydroxylase and the action of vitamin D", J Mol Endocrinol, 25, pp.141~148 (2000)
- Michael F, Holick, "Resurrection of vitamin D deficiency and rickets", J Clin Invest, 116, pp.2062~2072 (2006)
- Takeda E, "Vitamine D-dependent rickets type I and type II", Acta Paediatr Jpn, pp.508~513 (1997)