Hypophosphataemic osteomalacia due to de Toni-Debre-Fanconi syndrome in a 19-year old girl

Abstract

Osteomalacia associated with adult onset Fanconi syndrome is thought to result from hypophosphataemia due to renal phosphate loss and relative 1,25-dihydroxyvitamin D3 deficiency. In this disorder, the impaired renal phosphate uptake occurs as part of a generalized tubular defect in association with other features such as bicarbonuria, glycosuria and aminoaciduria. Fanconi syndrome is either hereditary--juvenile form--or is associated with various acquired or heritable diseases. In adults, the disease is similar to the juvenile form, but osteomalacia is a prominent feature. We report a sporadic, adult onset, hypophosphataemia in a 19-year old female patient who presented after puberty complaining of bone and joint pain and difficulty in walking following a minor fall. Radiological examination revealed numerous bilateral fractures of the ribs and pelvis while biochemical investigations showed combination of high phosphate clearance, low serum bicarbonate, glycosuria and glycinuria. Known causes of acquired renal tubular dysfunction were ruled out. The patient was diagnosed as having idiopathic Fanconi syndrome and started on vitamin D3 (Alfacalcidol 1 mg/day) and oral phosphorus (Joulie Solution, 1.5 g/day), which led to resolution of symptoms and an increase in serum phosphate (from 0,54 to 0,71 mmol/l) within few months following the initiation of therapy. However, radiological re-examination showed no signs of fracture healing.