Hypophosphatemic Rickets/ Osteomalacia: A Case Report and Review of Literature

Hypophosphatemic rickets/ osteomalacia comprises of a group of disorders of bone mineralization caused due to defect in renal handling of phosphorus. The group includes X linked hypophosphatemic rickets, autosomal dominant hypophosphatemic rickets and tumor induced osteomalacia. Here, we report the case of a young male who presented with mechanical low backache, muscular pains and proximal muscle weakness resulting in severe debility. He was diagnosed to have hypophosphatemic osteomalacia on the basis of hypophosphatemia, hyperphosphaturia, normal 25 hydroxy- and 1, 25 dihydroxy- vitamin D, normal intact PTH and raised serum FGF23 levels. Despite extensive search, no tumor was localized. He showed marked improvement with oral phosphate and calcitriol replacement and is under follow up.