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  • Title: Hypercalciuria and nephrolithiasis on long-term follow-up of pseudo-vitamin D deficiency rickets.
    Author: Laway BA, Wani AI, Masoodi SR, Bashir MI, Ganie MA, Zargar AH.
    Journal: J Pak Med Assoc; 2010 Jul; 60(7):591-3. PubMed ID: 20578617.
    Abstract:
    A case of pseudovitamin D deficiency (Vitamin D dependent rickets type I) is presented, who initially responded to physiological doses of calcitriol but developed nephrolithiasis and hypercalciuria around puberty. Hypercalciuria was corrected after stopping calcitriol. Pseudo vitamin D deficiency rickets also called vitamin D dependent rickets type I (VDDR 1) is an uncommon cause of rickets. Patients appear normal at birth and manifests with signs between the ages of two months to two years. Muscle weakness is prominent, radiographic features are striking and response to calciferols is complete. Hypercalciuria and nephrolithiasis are uncommon in the untreated disease but can develop due to overtreatment with calcitriol or oral calcium. Here we report a patient who developed hypercalciuria and nephrolithiasis around puberty while on maintenance dose of calcitriol and oral calcium.
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