Cystinuria – Report of 56 Cases

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Abstract
56 cystinuric patients were examined in the last 12 years. There were 31 males and 25 females from 20 families. 21 patients suffered from cystine lithiasis and four additional cases had renal colic. Almost all these patients had repeated urinary tract infections. Physical examination did not show signs of malnutrition or underdevelopment. In two cases strabismus and in one solitary case renal cyst were detected. Three cases of hypertension connected with chronic pyelonephritis were found. In six cases surgical procedures were necessary. The follow-up showed that in non-treated cases new stone formation and urinary tract infections are frequent. Four patients died at a young age because of renal disease–a mortality of 7.1% of all the series and of 19% of cystine lithiasis patients. It should be summarized that cystinuria is a relatively dangerous disease and if tendency to stone formation exists, forceful and very prolonged therapy should be introduced.

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