ABSTRACT
Adult Fanconi syndrome is a very rare disease characterized by renal glycosuria, generalized aminoaciduria, hypophosphatemia, hypouricemia and proximal renal tubular acidosis. It is divided into inherited and acquired forms. Proximal tubular transport defect in acquired Fanconi syndrome has been known to be resulted from multiple myeloma, dysproteinemias, heavy metal poisoning and chemical intoxications. A 50 year-old woman was admitted because of nausea for 2 weeks and body weight loss for 4 months. Leukocyte count, hemoglobin level and platelet count were 7,870/mm3, 11.7 g/dL 404,000/mm3 each. The urinalysis showed pH of 7.0, 3 positive for glucose and 3 positive for protein. The serum calcium, phosphate, uric acid and potassium were low to 8.9 mg/dL, 1.0 mg/dL, and 1.7 mEq/L. Serum creatinine level was 1.3mg/dL. The arterial blood gas analysis showed that the pH was 7.292 and bicarbonate was 14.7 mmol/L. Determination of amino acids in 24 hour urine specimen revealed the generalized aminoaciduria. Renal biopsy showed degeneration and necrosis of proximal tubules with normal glomeruli. Some tubular epithelial cells had enlarged nuclei and prominant nucleoli with vacuolated large mitochondrias. Cadmium concentrations of blood and urine were definitely higher than normal. The concentration of beta 2-microglobulin in urine was also high. Bicarbonate loading tests showed increased fractional excretions of bicarbonate in urine (6.129% at blood pH 7.248 and plasma HCO3 18.8 mEq/L, 13.7% at blood pH 7.315 and plasma HCO3 21.8 mEq/L). 24 hour urine protein electrophoresis showed no monoclonal gammopathy. This case of adult Fanconi syndrome was regarded to be related with cadmium intoxication. But no case of adult Fanconi syndrome related with cadmium toxicity has been reported yet in Korea. So authors report this case with brief review of literatures.