Cystinuria and Cystine Urolithiasis in Childhood

Summary Among 56 cases of cystinuria, in fifteen (2700) the disease was discovered at the preadolescent age. Eight out of 21 cases of cystine urolithiasis began to suffer in their childhood, which gave the rate of 3800‐much higher than it is usually encountered in the literature. Renal colic, hematuria, urinary retention and urinary tract infections may appear very early and lead subsequently to renal failure. The stones are almost always bilateral and multiple. Repeated surgical procedures are frequent. Cumulative data on 31 children with cystine stones and prolonged follow‐up in 24 of them showed that the disease is serious and sometimes fatal. Four patients with cystine lithiasis died a t young ages, which gives a mortality rate of 13%. An infant with bilateral cystine lithiasis and hypertension expired at the age of 7 months, is a unique and youngest case, reported in the literature. It seems that cystinuria and cystine lithiasis are more frequent in infancy and childhood than it was believed before and that it is a serious and sometimes fatal disease. Consequently, in each discovered case a regular and prolonged therapy should be undertaken.