[Idiopathic Fanconi syndrome in an adult]

Fanconi syndrome is a complex destruction of proximal renal tubuli which leads to glycosuria, aminoaciduria, phosphaturia and uraemia. These disturbances are accompanied with hypophosphatemia, osteomalacia and frequently hypokalemia. A 32-yrs. old woman diagnosed as suffering for 10 yrs. with Fanconi syndrome was admitted to the clinic with pain and numbness of the right leg which made walking difficult this resulted from progressive bone destruction. Biochemical disturbances and osteomalacia which are typical for Fanconi syndrome was confirmed in 1984. The reason for 3 hospitalizations in 1990-1992 were similar--especially leg pain and symptoms of uraemia. Recent X-rays showed osteomalacia with osteoporosis and progressive bone destruction. After she was put on a uremic diet, given vitamin D, calcium, phosphorus and sodium bicarbonate, there was a significant decrease in leg pain and relatively normal biochemical parameters.