Familial Hypophosphatemic Rickets - A Case Report and Review of Literature

Introduction Familial hypophosphatemic or X-linked hypophosphatemic (XLH) rickets is the most common form of non-nutritional rickets1. The prevalence of XLH rickets yet remain unknown in Bangladesh. It is an Xlinked dominant disorder characterized by renal phosphate wasting with consequent defect of bone mineralization1. Some form of the disease are observed to be transmitted which followed an autosomal dominant fashion and few sporadic cases are also being reported2. The basic problem in this disorder is a defect in renal phosphate transport across the luminal membrane of proximal renal tubular cells causing phosphate wasting with consequent hypophosphatemia. Affected children usually have short stature, knock knee, bowing of legs, coxa vara and poor dental development, but Harrison’s sulcus, myopathy are uncommon3. The human phosphateregulating gene is responsible for X-linked hypophosphatemic (XLH) rickets.