گزارش سه مورد جالب سيستينوزيس از بخش كودكان بيمارستان امام رضا(ع )

Cystinosis : Three Case Reports

In 1930 , Detoni , Debre and Fanconi , independently , reported several cases of children with glycosuria , hypophosphatemia and rickets ; the disease was later called Fanconi syndrome . This syndrome is in fact a renal proximal tubular dysfunction that results in the excretion of aminoacids , glucose , phosphates and bicarbonates with the urine . Cystinosis is a hereditary autosomal recessive disease with three different clinical presentations : the juvenile form with mild renal involvement , the adult form without any renal involvement and in children presented as Fanconi syndrome . Three interesting cases of cystinosis are reported in this paper .