Cystinuria subtype and the risk of nephrolithiasis

Kidney International
P GoodyerR Rozen

Abstract

Cystinuria patients may be classified into several subgroups based on the urinary phenotype of heterozygotes. However, the relative risk for nephrolithiasis and the prevalence of SLC3A1 mutations in these subgroups are unknown. Urinary cystine excretion, age at onset of nephrolithiasis and nature of SLC3A1 mutations were assessed prospectively in 23 cystinuria patients identified primarily through the Quebec Newborn Screening Program. Probands were classified as to cystinuria subtype on the basis of parental urinary cystine excretion. For classical Type I/I cystinuria, both parents excrete cystine in the normal range and probands carry two mutations of the SLC3A1 gene in nearly every case. Between ages 1 to 7 years, mean cystine excretion was high (4566 +/- 480 microns cystine/g creatinine) and exceeded the theoretic threshold for solubility on 70% of visits. Four of eight Type I/I patients began forming stones in the first decade. Type I/III patients (N = 12) excreted less cystine (1544 +/- 163 mumol cystine/g creatinine), exceeded the threshold of urinary cystine solubility less frequently (22% of visits) and had no nephrolithiasis in the first decade; one formed a stone at age 16 years. Only one SLC3A1 mutation was identifie...Continue Reading

References

Oct 30, 1986·The New England Journal of Medicine·P JaegerS O Thier
Mar 1, 1985·The Journal of Pediatrics·C R ScriverB Lemieux
Mar 1, 1966·The Journal of Clinical Investigation·L E RosenbergS Segal
Oct 10, 1995·Proceedings of the National Academy of Sciences of the United States of America·M J CalongeX Estivill
Sep 15, 1995·The Biochemical Journal·K MiyamotoH Kanayama
Apr 1, 1994·Nature Genetics·E PrasJ Weissenbach

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Citations

Jun 29, 2013·Journal of Pediatric Urology·Volkan IzolNihat Satar
Nov 11, 1999·Clinica Chimica Acta; International Journal of Clinical Chemistry·Y Nakagawa, F L Coe
Aug 30, 2003·Urology·Rajveer S Purohit, Marshall L Stoller
Dec 12, 2002·Endocrinology and Metabolism Clinics of North America·F Bruder Stapleton
Jul 20, 1999·Kidney International·M Guillén, D Corella
Oct 10, 2002·Kidney International·Daniel LeclercRima Rozen
Jun 25, 2003·Genetic Testing·Lotta HarnevikPeter Söderkvist
Feb 24, 2007·Nephrology·Gavin Becker, UNKNOWN Caring for Australians with Renal Impairment (CARI)
Sep 18, 2002·Kidney International·Elke BotzenhartUNKNOWN Arbeitsgemeinschaft für Pädiatrische Nephrologie (APN)
Jan 28, 2005·Kidney International·Marylise BoutrosPaul Goodyer
Oct 23, 2004·Nephron. Clinical Practice·William G van't Hoff
Oct 23, 2004·Nephron. Experimental Nephrology·P Goodyer
Apr 7, 2012·Orphanet Journal of Rare Diseases·Thomas EggermannKlaus Zerres
Mar 26, 2014·Nature Reviews. Urology·Kay ThomasAngela Doherty
Jun 29, 2001·Current Opinion in Urology·C S Ng, S B Streem
Sep 6, 2005·Annals of Human Genetics·Zuzana SkopkováTomás Adam
Dec 13, 2002·The Journal of Urology·Paul K PietrowGlenn M Preminger
Oct 12, 2000·The Journal of Urology·Y NakagawaF L Coe
Feb 9, 2012·Nature Reviews. Urology·Funda Baştuğ, Ruhan Düşünsel
Dec 28, 2019·International Journal of Molecular Sciences·Raquel Yahyaoui, Javier Pérez-Frías
Sep 8, 2001·American Journal of Physiology. Cell Physiology·C A WagnerS Bröer
Sep 20, 2002·Journal of the American Society of Nephrology : JASN·Luca Dello StrologoGianfranco Rizzoni
May 24, 2006·Pediatric Clinics of North America·Julie A Nicoletta, Marc B Lande

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