Cystinuria and its treatment: 25 years experience at St. Bartholomew's Hospital

Journal of Inherited Metabolic Disease
A D Stephens

Abstract

Cystinuria is an inherited condition affecting the active transport of the diamino acids cystine, ornithine, lysine and arginine across the renal tubule and the small intestine. The only clinical effect is the production of urinary tract stones and if these can be prevented the affected individuals can lead a normal life. In many people cystine stones can be dissolved and new stone formation prevented by a high fluid intake, but if this does not succeed regular treatment with penicillamine will do so. Although many side-effects have been described with penicillamine treatment it is rare for them to be severe enough to prevent its use in patients with cystinuria. Since the clinical effects of cystinuria can be prevented by either a high fluid intake or by penicillamine it is important to make the diagnosis in affected individuals as soon as possible and cystinuria should therefore be considered in all people (regardless of age) who form urinary stones.

References

Apr 1, 1975·British Journal of Urology·G C GachesJ B Roberts
Mar 1, 1977·Physics in Medicine and Biology·D R White
Jan 1, 1975·British Journal of Urology·G Williams, G D Chisholm
Feb 1, 1974·Clinical Science and Molecular Medicine·B D Cox, J S Cameron
Jun 1, 1968·The American Journal of the Medical Sciences·G W Frimpter
Mar 1, 1966·Annals of Human Genetics·J C CrawhallC J Thompson
Aug 1, 1955·Annals of Human Genetics·H HARRISF L WARREN
Dec 1, 1955·British Journal of Urology·C E DENT, B SENIOR
Oct 1, 1962·The Journal of Urology·L C HERRING
Mar 2, 1963·British Medical Journal·J C CRAWHALLR W WATTS
May 30, 1964·British Medical Journal·J C CRAWHALLR W WATTS
Feb 13, 1965·British Medical Journal·C E DENTL C WATSON
Sep 9, 1965·The New England Journal of Medicine·J E MCDONALD, P H HENNEMAN
Feb 1, 1955·Annals of Human Genetics·H HARRISF L WARREN
Dec 1, 1951·Proceedings of the Society for Experimental Biology and Medicine·W H STEIN
Nov 1, 1947·The American Journal of the Medical Sciences·H L YEH, W FRANKL
Feb 3, 1968·British Medical Journal·G S StokesF C Bartter

❮ Previous
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Citations

Jan 1, 1990·Urological Research·B Hess
Feb 1, 1995·Urology·M GuptaM L Stoller
Jan 28, 2005·Kidney International·Marylise BoutrosPaul Goodyer
Nov 12, 2009·Biomedical Chromatography : BMC·Ravi Bhushan, Rajender Kumar
Apr 1, 1994·Nature Genetics·E PrasJ Weissenbach
Oct 28, 2008·The Journal of Urology·Ralph J DeBerardinisPaige Kaplan
Dec 20, 2008·Scandinavian Journal of Urology and Nephrology·Sultan Durmus AydogduSuna Kose
May 11, 2011·Electromagnetic Biology and Medicine·Cemil SertYusuf Nergiz
Sep 10, 2016·Electrophoresis·Júlia LačnáPetr Kubáň
Nov 26, 2010·Journal of Clinical Pharmacology·Salvatore SotgiaAngelo Zinellu
Apr 30, 2021·Néphrologie & thérapeutique·Caroline Prot-BertoyeMarie Courbebaisse
Apr 6, 2004·Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences·Angelo ZinelluLuca Deiana

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