1978 年 17 巻 4 号 p. 328-335
A 50-year-old man with sporadic renal medullary cystic disease associated with moderate renal failure, severe anemia, dehydration and osteodystrophy, and without edema, hypertension or remarkable urine sediment was studied. Hyperchloremic acidosis and hypokalemia were found in this patient, which could be explained as a consequence of proximal renal tubular acidosis, since, during the normalization of plasma bicarbonate level by the adminstration of sodium bicarbonate, urinary potassium excretion was increased and urinary pH was further increased to 8.1. In addition, he had generalized aminoaciduria and increased clearance of phosphate and uric acid. Particularly the lysozyme clearance (Cly/Ccr) in this patient was significantly higher than in patients with chronic glomerunephritis, and equal to the value of Fanconi's syndrome. The presence of salt-wasting, hyperchloremic metabolic adidosis, aminoaciduria, hyperuricosuria and "tubular proteinuria" suggests that the patient with medullary cystic disease is associated with multiple proximal tubular dysfunction. The finding of renal biopsy is presented which suggests that this disorder represents a toxic nephropathy.
