糖原病を合併した腎尿細管性アチドーシスの1例

Abstract

This is a case report of renal tubular acidosis combined with bilateral renal calculi and glycogen storage disease (von Gierke's disease) seen in a 15 year-old girl. She was admitted with chief complaint of hematuria and lumbar pain. On laboratory examinations, urinalysis revealed high pH in spite of the metabolic acidosis. Therefore, the effect of ammonium chloride on urinary pH and of sodium thio-sulfate on potassium clearance was examined, and the disorder of renal tubules to excrete H+ was proved. Histologic examination of a renal biopsy specimen showed no abnormality except slight inflammatory hypercellularity. Enzymatic assay for liver and kidney showed glucose-6-phosphatase deficiency. The relationship between renal tubular acidosis and glycogen storage disease was briefiy discussed.