title: Hypercalciuria and nephrolithiasis on long-term follow-up of pseudo-vitamin D deficiency rickets.
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.
authors.affiliation: Department of Endocrinology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Kashmir, India.
authors.forename: Bashir Ahmad
authors.initials: BA
authors.lastname: Laway
authors.forename: Arshad Iqbal
authors.initials: AI
authors.lastname: Wani
authors.forename: Shariq Rashid
authors.initials: SR
authors.lastname: Masoodi
authors.forename: Mir Iftikhar
authors.initials: MI
authors.lastname: Bashir
authors.forename: Mohammad Ashraf
authors.initials: MA
authors.lastname: Ganie
authors.forename: Abdul Hamid
authors.initials: AH
authors.lastname: Zargar
mesh_terms: D000293:Adolescent; D002117:Calcitriol / Q000008:administration & dosage / Q000009:adverse effects* / Q000627:therapeutic use*; D005260:Female; D006801:Humans; D053565:Hypercalciuria; D053040:Nephrolithiasis; D012279:Rickets / Q000188:drug therapy*; D014815:Vitamins / Q000008:administration & dosage / Q000037:antagonists & inhibitors* / Q000627:therapeutic use*
chemical_list: D014815:Vitamins; D002117:Calcitriol