IMPE Abstracts

Introduction: Vitamin D dependent rickets is inherited as an autosomal recessive disease characterized by either defective metabolism of vitamin D or end organ resistance to vitamin D. Patients with these conditions commonly present with symptoms of rickets, hypocalcemia, bony changes and secondary hyperparathyroidism. Vitamin d dependent rickets can be broadly classified in two types; type 1 and type 2; on the basis of genetic defect, laboratory parameters as well as response to treatment. We here presents two cases of vitamin D dependent rickets type 2 with their age of onset, difficulties in diagnosing and response to management.

Case 1: A two year old male child presented in outpatients department of NICH with complains of difficulty in walking and bowing of legs. On examination he was active alert and well cooperative child with bony changes in the form of frontal bossing, widened wrists, bowing of legs and genu Varus. His height was lying on -2.89 SDS with mid arm circumference of 13.5cm and intermalleolar distance of 6.5 cm. On laboratory investigations, he had normocalcemia with hypophosphatemia and secondary hyperparathyroidism with highly raised 1,25 vitamin D levels. On further investigations it was noted that urinary excretion of phosphorus was increased as well as increased tubular reabsorption of phosphorus which was consistent with vitamin D dependent rickets type 2. Then the child was started on high doses of calcitriol and good response was noted.

Case 2: A three year old female child presented in endocrinological department of NICH with complains of difficulty in walking, abdominal distension and knock knees. On examination she was well cooperative child with widened wrists, knock knees and abdominal distension. On laboratory investigations, findings were consistent with secondary hyperparathyroidism with normocalcemia and hypophosphatemia and highly raised 1,25 vitamin D levels. On further investigations tubular reabsorption of phosphorus was found to be 94%. So the diagnosis of vitamin D dependent rickets was made and child was started on high doses of calcitriol after which significant improvement was noted and patient was monitored for nephrocalcinosis