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논문분류	춘계학술대회 초록집
제목	Case Series of VDDR Type 1A : Underdiagnosed Entity in Children
저자	Melachuru Sai Padma Charan
출판정보	2025; 2025(1):
키워드	VDDR Type 1A, Resistant rickets, Children, Calcitriol
초록	Vitamin D-dependent rickets type 1A (VDDR1A) is a rare autosomal recessive disorder caused by deficiency of the CYP27B1 gene which encodes 1alpha hydroxylase which converts 25 hydroxy vitamin D3 to 1,25dihyroxyvitamin D3 which is the active form . VDDR 1B is due to the deficiency of CYP2R1 which encodes 25 hydroxylase which helps in production of 25 hydroxy vitamin D3. Children with VDDR 1A usually become symptomatic in early infancy presenting with typical skeletal signs of rickets, failure to thrive, hypotonia, irritability, seizures or facture as late presentation.VDDR 1B show a milder phenotype and often improves with age.In VDDR 1A 1,25 dihydroxyvitamin D3 level will be low with normal 25 hydroxy vitamin D3 level whereas in type 1B only 25 hydroxy vitaminD3 levels will be low.We are reporting 4 cases of VDDR 1A .The common age of onset was between 1 to 2 years. Out of 4 ,three are male and one female. The commonest clinical symptoms at diagnosis were delayed walking and severe growth retardation .Common examination finding are wrist widening , double malleolus and hypotonia. Investigations revealed all children had hypocalcemia, hypophosphatemia, increased serum alkaline phosphatase and increased parathyroid hormones. All 4 had normal Vitamin D levels as expected in Type 1A supporting our clinical diagnosis. On genetic analysis all children showed CYP27B1 mutations. They were treated with calcitriol, oral calcium supplements and followed up for 2 years. One of four children had poor compliance.We noted biochemical parameters calcium, phosphorus , alakaline phosphatase , parathyroid hormone levels improved parallely with height centile during the course of follow up(Table1).Comparison of Height, Calcium, Vitamin D levels before and after treatment( Figure1).VDDR 1A should be considered in children with rickets who are non responsive to cholecalciferol treatment. Genetic analysis is important for making an accurate diagnosis.
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