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Cystine urolithiasis

MedGen UID:
886466
•Concept ID:
C3671878
•
Disease or Syndrome
Synonym: Cystine Urolithiasis

Definition

Urolithiasis in which the composition of the stones is predominantly cystine. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Cystine urolithiasis

Professional guidelines

PubMed

Treatment of cystinuria.
Joly D, Rieu P, Méjean A, Gagnadoux MF, Daudon M, Jungers P
Pediatr Nephrol 1999 Nov;13(9):945-50. doi: 10.1007/s004670050736. PMID: 10603157
Treatment of cystine urolithiasis by a combination of extracorporeal shock wave lithotripsy and chemolysis.
Ahlstrand C, Tiselius HG
J Stone Dis 1993 Jan;5(1):32-8. PMID: 10148259
Clinical features and management of cystinuria.
Dahlberg PJ, van den Berg, Kurtz SB, Wilson DM, Smith LH
Mayo Clin Proc 1977 Sep;52(9):533-42. PMID: 895195

Recent clinical studies

Etiology

Can cystinuria decrease the effectiveness of RIRS with high-power ho:yag laser in children? Outcomes from a tertiary endourology referral center.
Quiroz Madarriaga Y, Badenes Gallardo A, Llorens de Knecht E, Motta Lang G, Palou Redorta J, Bujons Tur A
Urolithiasis 2022 Apr;50(2):229-234. Epub 2022 Jan 27 doi: 10.1007/s00240-022-01301-w. PMID: 35084538
Natural history and quality of life in patients with cystine urolithiasis: a single centre study.
Parr JM, Desai D, Winkle D
BJU Int 2015 Oct;116 Suppl 3:31-5. Epub 2015 Jul 21 doi: 10.1111/bju.13169. PMID: 26204884
Radiopacity and hounsfield attenuation of cystine urolithiasis: case series and review of the literature.
Patel SR, Wagner LE, Lubner MG, Nakada SY
J Endourol 2014 Apr;28(4):472-5. Epub 2013 Dec 30 doi: 10.1089/end.2013.0524. PMID: 24228639
Penicillamine therapy for pediatric cystinuria: experience from a cohort of American children.
DeBerardinis RJ, Coughlin CR 2nd, Kaplan P
J Urol 2008 Dec;180(6):2620-3. Epub 2008 Oct 31 doi: 10.1016/j.juro.2008.08.057. PMID: 18951580Free PMC Article
Cystine crystal volume determination: a useful tool in the management of cystinuric patients.
Daudon M, Cohen-Solal F, Barbey F, Gagnadoux MF, Knebelmann B, Jungers P
Urol Res 2003 Jul;31(3):207-11. Epub 2003 May 14 doi: 10.1007/s00240-003-0319-0. PMID: 12748836

Diagnosis

Significance of twinkling artifact on ultrasound in the diagnosis of cystine urolithiasis.
Fujii Y, Kino M, Kimata T, Tohda A, Kaneko K
Pediatr Int 2013 Jun;55(3):e49-51. doi: 10.1111/ped.12016. PMID: 23782378
Nephrotic syndrome occurring during tiopronin treatment for cystinuria.
Tasic V, Lozanovski VJ, Ristoska-Bojkovska N, Sahpazova E, Gucev Z
Eur J Pediatr 2011 Feb;170(2):247-9. Epub 2010 Oct 6 doi: 10.1007/s00431-010-1315-3. PMID: 20924604
Penicillamine therapy for pediatric cystinuria: experience from a cohort of American children.
DeBerardinis RJ, Coughlin CR 2nd, Kaplan P
J Urol 2008 Dec;180(6):2620-3. Epub 2008 Oct 31 doi: 10.1016/j.juro.2008.08.057. PMID: 18951580Free PMC Article
Cystine crystal volume determination: a useful tool in the management of cystinuric patients.
Daudon M, Cohen-Solal F, Barbey F, Gagnadoux MF, Knebelmann B, Jungers P
Urol Res 2003 Jul;31(3):207-11. Epub 2003 May 14 doi: 10.1007/s00240-003-0319-0. PMID: 12748836
Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs.
Henthorn PS, Liu J, Gidalevich T, Fang J, Casal ML, Patterson DF, Giger U
Hum Genet 2000 Oct;107(4):295-303. doi: 10.1007/s004390000392. PMID: 11129328

Therapy

Alkaline Water: Help or Hype for Uric Acid and Cystine Urolithiasis?
Piedras P, Cumpanas AD, McCormac A, Lavasani SAM, Gorgen ARH, Rojhani A, Vu MC, Bhatt R, Asplin J, Tano ZE, Landman J, Clayman RV, Patel RM
J Urol 2024 Feb;211(2):276-284. Epub 2024 Jan 9 doi: 10.1097/JU.0000000000003767. PMID: 38193415
Can cystinuria decrease the effectiveness of RIRS with high-power ho:yag laser in children? Outcomes from a tertiary endourology referral center.
Quiroz Madarriaga Y, Badenes Gallardo A, Llorens de Knecht E, Motta Lang G, Palou Redorta J, Bujons Tur A
Urolithiasis 2022 Apr;50(2):229-234. Epub 2022 Jan 27 doi: 10.1007/s00240-022-01301-w. PMID: 35084538
Natural history and quality of life in patients with cystine urolithiasis: a single centre study.
Parr JM, Desai D, Winkle D
BJU Int 2015 Oct;116 Suppl 3:31-5. Epub 2015 Jul 21 doi: 10.1111/bju.13169. PMID: 26204884
Penicillamine therapy for pediatric cystinuria: experience from a cohort of American children.
DeBerardinis RJ, Coughlin CR 2nd, Kaplan P
J Urol 2008 Dec;180(6):2620-3. Epub 2008 Oct 31 doi: 10.1016/j.juro.2008.08.057. PMID: 18951580Free PMC Article
Treatment of cystinuria.
Joly D, Rieu P, Méjean A, Gagnadoux MF, Daudon M, Jungers P
Pediatr Nephrol 1999 Nov;13(9):945-50. doi: 10.1007/s004670050736. PMID: 10603157

Prognosis

Cystine crystal volume determination: a useful tool in the management of cystinuric patients.
Daudon M, Cohen-Solal F, Barbey F, Gagnadoux MF, Knebelmann B, Jungers P
Urol Res 2003 Jul;31(3):207-11. Epub 2003 May 14 doi: 10.1007/s00240-003-0319-0. PMID: 12748836
Medical treatment of cystinuria: critical reappraisal of long-term results.
Barbey F, Joly D, Rieu P, Méjean A, Daudon M, Jungers P
J Urol 2000 May;163(5):1419-23. doi: 10.1016/s0022-5347(05)67633-1. PMID: 10751848
Treatment of cystine urolithiasis by a combination of extracorporeal shock wave lithotripsy and chemolysis.
Ahlstrand C, Tiselius HG
J Stone Dis 1993 Jan;5(1):32-8. PMID: 10148259
Clinical features and management of cystinuria.
Dahlberg PJ, van den Berg, Kurtz SB, Wilson DM, Smith LH
Mayo Clin Proc 1977 Sep;52(9):533-42. PMID: 895195
Cystinuria and cystine urolithiasis in childhood.
Pruzanski W
Acta Paediatr Scand 1966 Jan;55(1):97-106. doi: 10.1111/j.1651-2227.1966.tb15214.x. PMID: 5919477

Clinical prediction guides

Cystine crystal volume determination: a useful tool in the management of cystinuric patients.
Daudon M, Cohen-Solal F, Barbey F, Gagnadoux MF, Knebelmann B, Jungers P
Urol Res 2003 Jul;31(3):207-11. Epub 2003 May 14 doi: 10.1007/s00240-003-0319-0. PMID: 12748836
Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs.
Henthorn PS, Liu J, Gidalevich T, Fang J, Casal ML, Patterson DF, Giger U
Hum Genet 2000 Oct;107(4):295-303. doi: 10.1007/s004390000392. PMID: 11129328
Medical treatment of cystinuria: critical reappraisal of long-term results.
Barbey F, Joly D, Rieu P, Méjean A, Daudon M, Jungers P
J Urol 2000 May;163(5):1419-23. doi: 10.1016/s0022-5347(05)67633-1. PMID: 10751848
Treatment of cystine urolithiasis by a combination of extracorporeal shock wave lithotripsy and chemolysis.
Ahlstrand C, Tiselius HG
J Stone Dis 1993 Jan;5(1):32-8. PMID: 10148259

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