초록
저자들은 구루병의 가족력이 있으면서 구루병의 전형적인 임상소견과 저칼슘혈증, 알칼라인 포스파타제의 상승, 2차적인 부갑상선 기능 항진증을 보인 1례를 경험하였기에 문헌고찰과 함께 보고하는 바이다.
"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 ${\alpha}$-hydroxylase, the enzyme responsible for conversion of $25(OH)D_3$. These patients have low to detectable $1,25(OH)_2D_3$ in presence of normal to raised $25(OH)D_3$. In type II VDDR, renal production of $1,25(OH)_2D_3$ is intact but $1,25(OH)_2D_3$ is not used effectively and target organ resistant to $1,25(OH)_2D_3$ 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.
