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Cystinuria in the south of Brazil

Roberto Giugliani^I; Maria S.R.B. Figueiredo^I; Adriana Folberg^I; Maria Cristina K. Giugliani^I; Gilberto Padovan^II; Lewis Joel Greene^II

^IUnidade de Genética Médica, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos 2350, 90210 Porto Alegre, RS, Brasil. Send correspondence to R.G.
^IICentro Interdepartamental de Química de Proteínas e Departamento de Farmacologia da Faculdade de Medicina de Ribeirão Preto, 14049 Ribeirão Preto, SP, Brasil

ABSTRACT

To determine the prevalence of cystinuria in an area located in southern Brazil, we collected random urine samples from 827 stone-forming patients from the Porto Alegre region, state of Rio Grande do Sul. The urine samples were submitted to the cyanide-nitroprusside test, amino acid thin-layer chromatography and amino acid quantification by ionexchange chromatography. We detected 7 patients with cystinuria in the sample studied (0.84%). Although this frequency is not higher than that observed in many other studies, the identification of several cases of cystinuria shows that this disease does occur in the south of Brazil and it is not very rare among stone-forming patients. Since it is a treatable disorder and easily detectable by a simple and inexpensive method, we suggest that cystinuria screening should be performed in every stone-forming patient in this region. We think that the protocol carried out in the present study offers a rational approach for cystinuria screening in a country like Brazil.

Keywords: Cystinuria; Brazil.

REFERENCES

Alonzo, N. and Hirs, C.H.W. (1968). Automation of sample application in amino acid analysers. Anal. Biochem. 23: 272-288.

Bovee, K. and Segal, S. (1984). Renal tubule reabsorption of amino acid after lysine loading of cystinuria dogs. Metabolism 33:602-607.

Brand, E., Har^ris, M.M. and Biloon, S. (1930). The excretion of cystine complex which decomposes in the urine with the liberation of free cystine. J. Biol. Chem. 86:315-331.

Dahlberg, P.J., Van der Berg, C.J., Kurtz, S.B., Wilson, D.M. and Smith, L.H. (1977). Clinical features and management of cystinuria. Mayo Clin. Proc. 52: 533-542.

Dent, C.E. and Senior, B. (1955). Studies on the treatment of cystinuria. Br. J. Urol. 27: 317-332. Ghazali, A., Barrat, T.M. and Williams, D.I. (1973). Childhood urolithiasis in Britain. Arch. Dis. Child. 48: 291-295.

Giugliani, R and Ferrari, I. (1980). Metabolic factors in urolithiasis: a study in Brazil. J. Urol. 124: 503-507.

Giugliani, R., Ferrari, I. and Greene, L.J. (1985). Heterozygous cystinuria and urinary lithiasis. Am. J. Med. Genet. 22: 703-715.

Giugliani, R., Ferrari, I. and Greene, L.J. (1986). Frequency of cystinuria among stone-forming patients in region of Brazil. Urology 27:38-40.

Kelly, S. (1978). Cystinuria genotypes predicted from excretion patterns. Am. J. Med. Genet. 2: 175-190.

Levinson, S.A. and MacFate, R.P. (1956). Clinical Laboratory Diagnosis. Lea & Febiger, Philadelphia, pp. 510-511.

Malek, R.S. and Kelalis, P.P. (1975). Paediatric nephrolothiasis. J. Urol. 113: 545-551.

Marquardt, H. and Nagel, R. (1977). Urolithiasis in childhood. Urology 9: 627-629.

Mehta, H.C. and Saini, A.S. (1974). Separation of amino acids from untreated urine on thin-layers of silica gel. J. Chromatogr. 96:148-150.

Melick, R.A. and Henneman, P.H. (1958). Clinical and laboratory studies of 207 consecutive patients in a kidney-stone clinic. N. England J. Med. 259: 307-314.

Rose, G.A. (1977). The causes and medical treatment of renal calculi. Pratictioner 218: 74-90.

Rosenberg, L.E., Downing, S.I., Durant, J.C. and Segal, S. (1966). Cystinúria: biochemical evidence for three genetically distinct diseases. J. Clin. Invest. 45: 365-371.

Segal, S. and Thier, S. (1983). Cystinuria. In: The Metabolic Basis of Inherited Disease (Stambury, J.B., Wyngaarden, J.B., Fredrickson, D.S., Goldstein, J.L. and Brown, M.S., eds.). McGraw Hill, New York, pp. 1779-1791.

Scott, R. (1985). Epidemiology of stone disease. Br. J. Urol. 57: 491-497.

Snedecor, G.W. and Cochran, W.G. (1967). Statistical Methods. Iowa State Univ. Press, Ames.

Spackman, D.H., Stein, W.R. and Moore, S. (1958). Automatic recording apparatus for use in the chromatography of amino acids. Anal. Chem. 30: 1190-1206.