일측성 신장 무형성을 동반한 제 1형비타민 D 의존성 구룻병 1례 (A Case of Type I Vitamin D-dependent Rickets withUnilateral Aplasia of Kidney)

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.

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.