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Cystinuria(CSNU)

MedGen UID:
8226
Concept ID:
C0010691
Disease or Syndrome
Synonyms: CSNU; Cystinuria, non-type I; CYSTINURIA, TYPE I; CYSTINURIA, TYPE II; CYSTINURIA, TYPE III; High urine cystine levels
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [HPO:curators]
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Cystinuria (85020001); CSNU - Cystinuria (85020001)
 
Genes (locations): SLC3A1 (2p21); SLC7A9 (19q13.11)
OMIM®: 220100
HPO: HP:0003131
Orphanet: ORPHA214

Definition

Cystinuria is an autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the proximal renal tubule and gastrointestinal tract. The impaired renal reabsorption of cystine and its low solubility causes the formation of calculi in the urinary tract, resulting in obstructive uropathy, pyelonephritis, and, rarely, renal failure (summary by Barbosa et al., 2012). [from OMIM]

Additional description

From GHR
Cystinuria is a condition characterized by the buildup of the amino acid cystine, a building block of most proteins, in the kidneys and bladder. As the kidneys filter blood to create urine, cystine is normally absorbed back into the bloodstream. People with cystinuria cannot properly reabsorb cystine into their bloodstream, so the amino acid accumulates in their urine.As urine becomes more concentrated in the kidneys, the excess cystine forms crystals. Larger crystals become stones that may lodge in the kidneys or in the bladder. Sometimes cystine crystals combine with calcium molecules in the kidneys to form large stones. These crystals and stones can create blockages in the urinary tract and reduce the ability of the kidneys to eliminate waste through urine. The stones also provide sites where bacteria may cause infections.  https://ghr.nlm.nih.gov/condition/cystinuria

Clinical features

Cystinuria
MedGen UID:
8226
Concept ID:
C0010691
Disease or Syndrome
Cystinuria is an autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the proximal renal tubule and gastrointestinal tract. The impaired renal reabsorption of cystine and its low solubility causes the formation of calculi in the urinary tract, resulting in obstructive uropathy, pyelonephritis, and, rarely, renal failure (summary by Barbosa et al., 2012).
Recurrent UTI
MedGen UID:
120466
Concept ID:
C0262655
Disease or Syndrome
Repeated infections of the urinary tract.
Nephrolithiasis
MedGen UID:
98227
Concept ID:
C0392525
Disease or Syndrome
Formation of stones in the KIDNEY.
Abnormality of the nervous system
MedGen UID:
105425
Concept ID:
C0497552
Congenital Abnormality
An abnormality of the nervous system that is present at birth or detected in the neonatal period.
Renal insufficiency
MedGen UID:
326535
Concept ID:
C1839604
Finding
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Hyperlysinuria
MedGen UID:
867368
Concept ID:
C4021733
Finding
An increased concentration of lysine in the urine.
Ornithinuria
MedGen UID:
871131
Concept ID:
C4025602
Finding
An increased concentration of ornithine in the urine.
Argininuria
MedGen UID:
871162
Concept ID:
C4025635
Finding
A increased concentration of arginine in the urine.

Conditions with this feature

Cystinuria
MedGen UID:
8226
Concept ID:
C0010691
Disease or Syndrome
Cystinuria is an autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the proximal renal tubule and gastrointestinal tract. The impaired renal reabsorption of cystine and its low solubility causes the formation of calculi in the urinary tract, resulting in obstructive uropathy, pyelonephritis, and, rarely, renal failure (summary by Barbosa et al., 2012).
Hypotonia-cystinuria syndrome
MedGen UID:
341133
Concept ID:
C1848030
Disease or Syndrome
Diaminopentanuria
MedGen UID:
347412
Concept ID:
C1857285
Disease or Syndrome

Professional guidelines

PubMed

Eggermann T, Zerres K, Nunes V, Font-Llitjós M, Bisceglia L, Chatzikyriakidou A, dello Strologo L, Pras E, Creemers J, Palacin M
Eur J Hum Genet 2012 Feb;20(2) Epub 2011 Aug 24 doi: 10.1038/ejhg.2011.163. PMID: 21863055Free PMC Article

Recent clinical studies

Etiology

Sahota A, Tischfield JA, Goldfarb DS, Ward MD, Hu L
Urolithiasis 2019 Feb;47(1):57-66. Epub 2018 Dec 4 doi: 10.1007/s00240-018-1101-7. PMID: 30515543
Tostivint I, Royer N, Nicolas M, Bourillon A, Czerkiewicz I, Becker PH, Muller F, Benoist JF
Clin Genet 2017 Dec;92(6):632-638. Epub 2017 Oct 4 doi: 10.1111/cge.13079. PMID: 28646536
Obaid A, Nashabat M, Al Fakeeh K, Al Qahtani AT, Alfadhel M
BMC Nephrol 2017 Feb 6;18(1):50. doi: 10.1186/s12882-017-0469-x. PMID: 28166740Free PMC Article
Kim JH, Park E, Hyun HS, Lee BH, Kim GH, Lee JH, Park YS, Kang HG, Ha IS, Cheong HI
J Korean Med Sci 2017 Feb;32(2):310-314. doi: 10.3346/jkms.2017.32.2.310. PMID: 28049243Free PMC Article
Wong KA, Mein R, Wass M, Flinter F, Pardy C, Bultitude M, Thomas K
BJU Int 2015 Jul;116(1):109-16. Epub 2015 Mar 12 doi: 10.1111/bju.12894. PMID: 25109415

Diagnosis

Mahdavi M, Koulivand L, Khorrami M, Mirsafaie M, Kheirollahi M
Mol Biol Rep 2018 Oct;45(5):1165-1173. Epub 2018 Aug 1 doi: 10.1007/s11033-018-4269-6. PMID: 30069816
Obaid A, Nashabat M, Al Fakeeh K, Al Qahtani AT, Alfadhel M
BMC Nephrol 2017 Feb 6;18(1):50. doi: 10.1186/s12882-017-0469-x. PMID: 28166740Free PMC Article
Kim JH, Park E, Hyun HS, Lee BH, Kim GH, Lee JH, Park YS, Kang HG, Ha IS, Cheong HI
J Korean Med Sci 2017 Feb;32(2):310-314. doi: 10.3346/jkms.2017.32.2.310. PMID: 28049243Free PMC Article
Varda BK, Johnson EK, Johnson KL, Rosoklija I, Baum MA, Nelson CP
J Pediatr Urol 2016 Apr;12(2):106.e1-7. Epub 2015 Oct 22 doi: 10.1016/j.jpurol.2015.08.019. PMID: 26597229
Rhodes HL, Yarram-Smith L, Rice SJ, Tabaksert A, Edwards N, Hartley A, Woodward MN, Smithson SL, Tomson C, Welsh GI, Williams M, Thwaites DT, Sayer JA, Coward RJ
Clin J Am Soc Nephrol 2015 Jul 7;10(7):1235-45. Epub 2015 May 11 doi: 10.2215/CJN.10981114. PMID: 25964309Free PMC Article

Therapy

Sahota A, Tischfield JA, Goldfarb DS, Ward MD, Hu L
Urolithiasis 2019 Feb;47(1):57-66. Epub 2018 Dec 4 doi: 10.1007/s00240-018-1101-7. PMID: 30515543
Goldfarb DS, Grasso M
Urol Nurs 2017 Mar-Apr;37(2):90-3. PMID: 29240374Free PMC Article
Kim JH, Park E, Hyun HS, Lee BH, Kim GH, Lee JH, Park YS, Kang HG, Ha IS, Cheong HI
J Korean Med Sci 2017 Feb;32(2):310-314. doi: 10.3346/jkms.2017.32.2.310. PMID: 28049243Free PMC Article
Izol V, Aridogan IA, Karsli O, Deger M, Satar N
J Pediatr Urol 2013 Dec;9(6 Pt B):1218-22. Epub 2013 Jun 24 doi: 10.1016/j.jpurol.2013.05.017. PMID: 23806278
Claes DJ, Jackson E
Pediatr Nephrol 2012 Nov;27(11):2031-2038. Epub 2012 Jan 27 doi: 10.1007/s00467-011-2092-6. PMID: 22281707

Prognosis

Mahdavi M, Koulivand L, Khorrami M, Mirsafaie M, Kheirollahi M
Mol Biol Rep 2018 Oct;45(5):1165-1173. Epub 2018 Aug 1 doi: 10.1007/s11033-018-4269-6. PMID: 30069816
Martell HJ, Wong KA, Martin JF, Kassam Z, Thomas K, Wass MN
BMC Genomics 2017 Aug 11;18(Suppl 5):550. doi: 10.1186/s12864-017-3913-1. PMID: 28812535Free PMC Article
Varda BK, Johnson EK, Johnson KL, Rosoklija I, Baum MA, Nelson CP
J Pediatr Urol 2016 Apr;12(2):106.e1-7. Epub 2015 Oct 22 doi: 10.1016/j.jpurol.2015.08.019. PMID: 26597229
Koulivand L, Mohammadi M, Ezatpour B, Salehi R, Markazi S, Dashti S, Kheirollahi M
Urolithiasis 2015 Oct;43(5):447-53. Epub 2015 Jun 30 doi: 10.1007/s00240-015-0794-0. PMID: 26123750
Rhodes HL, Yarram-Smith L, Rice SJ, Tabaksert A, Edwards N, Hartley A, Woodward MN, Smithson SL, Tomson C, Welsh GI, Williams M, Thwaites DT, Sayer JA, Coward RJ
Clin J Am Soc Nephrol 2015 Jul 7;10(7):1235-45. Epub 2015 May 11 doi: 10.2215/CJN.10981114. PMID: 25964309Free PMC Article

Clinical prediction guides

Mahdavi M, Koulivand L, Khorrami M, Mirsafaie M, Kheirollahi M
Mol Biol Rep 2018 Oct;45(5):1165-1173. Epub 2018 Aug 1 doi: 10.1007/s11033-018-4269-6. PMID: 30069816
Martell HJ, Wong KA, Martin JF, Kassam Z, Thomas K, Wass MN
BMC Genomics 2017 Aug 11;18(Suppl 5):550. doi: 10.1186/s12864-017-3913-1. PMID: 28812535Free PMC Article
Kim JH, Park E, Hyun HS, Lee BH, Kim GH, Lee JH, Park YS, Kang HG, Ha IS, Cheong HI
J Korean Med Sci 2017 Feb;32(2):310-314. doi: 10.3346/jkms.2017.32.2.310. PMID: 28049243Free PMC Article
Wong KA, Pardy C, Pillay S, Athanasiou T, Rottenberg G, Bultitude M, Chandra A, Thomas K
J Endourol 2016 May;30(5):609-14. doi: 10.1089/end.2015.0692. PMID: 26781171
Bourderioux M, Nguyen-Khoa T, Chhuon C, Jeanson L, Tondelier D, Walczak M, Ollero M, Bekri S, Knebelmann B, Escudier E, Escudier B, Edelman A, Guerrera IC
J Proteome Res 2015 Jan 2;14(1):567-77. Epub 2014 Nov 12 doi: 10.1021/pr501003q. PMID: 25365230

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