姉妹にみられたチスチン尿石症 ; D-penicillamine治療を中心として

Abstract

Cystinuria with urolithiasis was found in 19 and 12 years old sisters. Serum and urinary amino acids constitutions were determined by column chromatography and they revealed excess excretion of four amino acids; cystine, lysine, ornitine and arginine in their urine. Daily urinary output of cystine exceeded more than 250 mg per gm. creatinine which Harris and his collaborators mentioned as possible stone forming urinary cystine concentration. Recessive homozygous trait was thought to be eligible after surveys for their family tree and biochemical analysis of their urine. After surgical procedures for each case, pyelolithotomy or cystolithotomy, the residue staghorn stones in the left kidney of elderly one has been treated by D-penicillamine and alkali for three years. No significant complication was observed during therapeutic period under substitution of pyridoxine. Consequently, the stones reduced their size to such an extent as discharged spontaneously. The authors discussed about pathogenesis of the stone formation in cystinuric patient with emphasis on the genetic aspect of this inborn error in metabolism.