Case report: vitamin D‐dependent rickets type 1 caused by a novel CYP27B1 mutation
نویسندگان
چکیده
Vitamin D-dependent rickets type 1 VDDR-1 is a recessive inherited disorder with impaired activation of vitamin D, caused by mutations in CYP27B1. We present long-time follow-up of a case with a novel mutation including high-resolution peripheral quantitative computed tomography of the bone. Adequate treatment resulted in a normalized phenotype.
منابع مشابه
A novel CYP27B1 mutation causes a feline vitamin D-dependent rickets type IA.
A 12-week-old domestic cat presented at a local veterinary clinic with hypocalcemia and skeletal abnormalities suggestive of rickets. Osteomalacia (rickets) is a disease caused by impaired bone mineralization leading to an increased prevalence of fractures and deformity. Described in a variety of species, rickets is most commonly caused by vitamin D or calcium deficiencies owing to both environ...
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عنوان ژورنال:
دوره 3 شماره
صفحات -
تاریخ انتشار 2015