International Clinical and Medical Case Reports Journal (ISSN: 2832-5788) | Volume 4, Issue 8 | Case Report | Open Access
Rupal Kashiyani*
Second Year Resident, Department of Paediatrics, B.J. Medical College, Ahmedabad
*Correspondence to: Rupal Kashiyani
Fulltext PDFVitamin D dependent rickets type 1 is rare condition, incidence being 1 in 2,50,000 worldwide. VDDR has 3 subtypes amongst which VDDR type 1 is most common. It is an autosomal recessive condition results from mutation in cyp27B1 gene that codes for 1 α hydroxylase, rate limiting enzyme that converts vitamin D into its active form, calcitriol in kidney.
25(OH) vit D (inactive) -------------------------> 1,25(OH)2vit D (active)
1 α hydroxylase (rate limiting step)
In this case, 3 years old male child presented with c/o breathing difficulty for 1 month. Patient has consulted multiple doctors in the past for failure to thrive, delayed milestones and multiple deformities, for which he was prescribed vitamin D sachets, but there was no improvement in patient’s condition.
On general examination, patient had marked subcostal indrawing, nasal flaring and classical features of rickets such as widening of wrists and ankles, anterior bowing of tibia and femur, genu varus, rachitic rosary, Harrison’s groove, frontal bossing, dental carries.
In view of history, examination and X-ray finding, Patient was investigated for rickets. Based on laboratory parameters such as active and inactive form of vitamin D, PTH, Calcium and phosphate level, patient was diagnosed as vitamin D dependent rickets type 1.
Patient initially was given high flow nasal O2 support and gradually weaned off in 3-4 days. Patient was given active vitamin D (CALCITRIOL) in high doses, oral calcium, phosphate sachets, zinc, vitamin c supplements on which patient’s condition improved. Proper physiotherapy, dietary advice, course and prognosis of the disease explained to parents and discharged the patient on same oral supplements.
Rupal Kashiyani, Mehul M. Jadav. A Case Report of Vitamin D Dependent Rickets Type1. Int Clinc Med Case Rep Jour. 2025;4(8):1-3.