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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
SNOMED CT: Cystinuria (85020001); CSNU - Cystinuria (85020001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Semidominant inheritance
MedGen UID:
1693292
Concept ID:
C5139139
Genetic Function
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on chromosomes in which a trait can manifest in a monoallelic (e.g. heterozygotes) and biallelic (e.g. homozygotes, compound heterozygotes) state, with similar or differing phenotype severity present dependent on the number of alleles affected.
 
Genes (locations): SLC3A1 (2p21); SLC7A9 (19q13.11)
 
HPO: HP:0003131
Monarch Initiative: MONDO:0009067
OMIM®: 220100
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 MedlinePlus Genetics
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://medlineplus.gov/genetics/condition/cystinuria

Clinical features

From HPO
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 urinary tract infections
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
The presence of calculi (stones) in the kidneys.
Renal insufficiency
MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
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
Level of ornithine in the urine above the upper limit of normal.
Argininuria
MedGen UID:
871162
Concept ID:
C4025635
Finding
A increased concentration of arginine in the urine.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

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).
Hyperlysinemia
MedGen UID:
82816
Concept ID:
C0268553
Disease or Syndrome
Hyperlysinemia type I is an autosomal recessive metabolic condition with variable clinical features. Some patients who present in infancy with nonspecific seizures, hypotonia, or mildly delayed psychomotor development have been found to have increased serum lysine and pipecolic acid on laboratory analysis. However, about 50% of probands are reported to be asymptomatic, and hyperlysinemia is generally considered to be a benign metabolic variant (summary by Tondo et al., 2013; Houten et al., 2013). The AASS gene encodes a bifunctional enzyme: lysine alpha-ketoglutarate reductase and saccharopine dehydrogenase. In hyperlysinemia type I, both enzymatic functions of AASS are defective; in hyperlysinemia type II, also known as saccharopinuria (268700), some of the first enzymatic function is retained (Cox, 1985; Cox et al., 1986).
Hypotonia-cystinuria syndrome
MedGen UID:
341133
Concept ID:
C1848030
Disease or Syndrome
A rare, genetic disorder of amino acid absorption and transport, characterized by generalized hypotonia at birth, neonatal/infantile failure to thrive (followed by hyperphagia and rapid weight gain in late childhood), cystinuria type 1, nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. Dysmorphic features mainly include dolichocephaly and ptosis. Nephrolithiasis occurs at variable ages.
Diaminopentanuria
MedGen UID:
347412
Concept ID:
C1857285
Disease or Syndrome
Myasthenic syndrome, congenital, 22
MedGen UID:
1393545
Concept ID:
C4479088
Disease or Syndrome

Professional guidelines

PubMed

D'Ambrosio V, Capolongo G, Goldfarb D, Gambaro G, Ferraro PM
Pediatr Nephrol 2022 Aug;37(8):1705-1711. Epub 2021 Nov 23 doi: 10.1007/s00467-021-05342-y. PMID: 34812923
Saravakos P, Kokkinou V, Giannatos E
Urology 2014 Apr;83(4):693-9. Epub 2013 Nov 16 doi: 10.1016/j.urology.2013.10.013. PMID: 24246330
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

Curated

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

Servais A, Thomas K, Dello Strologo L, Sayer JA, Bekri S, Bertholet-Thomas A, Bultitude M, Capolongo G, Cerkauskiene R, Daudon M, Doizi S, Gillion V, Gràcia-Garcia S, Halbritter J, Heidet L, van den Heijkant M, Lemoine S, Knebelmann B, Emma F, Levtchenko E; Metabolic Nephropathy Workgroup of the European Reference Network for Rare Kidney Diseases (ERKNet) and eUROGEN
Kidney Int 2021 Jan;99(1):48-58. Epub 2020 Sep 9 doi: 10.1016/j.kint.2020.06.035. PMID: 32918941
Howles SA, Thakker RV
Nat Rev Urol 2020 Jul;17(7):407-421. Epub 2020 Jun 12 doi: 10.1038/s41585-020-0332-x. PMID: 32533118
Halbritter J, Baum M, Hynes AM, Rice SJ, Thwaites DT, Gucev ZS, Fisher B, Spaneas L, Porath JD, Braun DA, Wassner AJ, Nelson CP, Tasic V, Sayer JA, Hildebrandt F
J Am Soc Nephrol 2015 Mar;26(3):543-51. Epub 2014 Oct 8 doi: 10.1681/ASN.2014040388. PMID: 25296721Free PMC Article
Scheinman SJ
Semin Nephrol 1999 Jul;19(4):381-8. PMID: 10435676
Milliner DS
Endocrinol Metab Clin North Am 1990 Dec;19(4):889-907. PMID: 2081517

Diagnosis

D'Ambrosio V, Capolongo G, Goldfarb D, Gambaro G, Ferraro PM
Pediatr Nephrol 2022 Aug;37(8):1705-1711. Epub 2021 Nov 23 doi: 10.1007/s00467-021-05342-y. PMID: 34812923
Servais A, Thomas K, Dello Strologo L, Sayer JA, Bekri S, Bertholet-Thomas A, Bultitude M, Capolongo G, Cerkauskiene R, Daudon M, Doizi S, Gillion V, Gràcia-Garcia S, Halbritter J, Heidet L, van den Heijkant M, Lemoine S, Knebelmann B, Emma F, Levtchenko E; Metabolic Nephropathy Workgroup of the European Reference Network for Rare Kidney Diseases (ERKNet) and eUROGEN
Kidney Int 2021 Jan;99(1):48-58. Epub 2020 Sep 9 doi: 10.1016/j.kint.2020.06.035. PMID: 32918941
Thomas K, Wong K, Withington J, Bultitude M, Doherty A
Nat Rev Urol 2014 May;11(5):270-7. Epub 2014 Mar 25 doi: 10.1038/nrurol.2014.51. PMID: 24662732
Saravakos P, Kokkinou V, Giannatos E
Urology 2014 Apr;83(4):693-9. Epub 2013 Nov 16 doi: 10.1016/j.urology.2013.10.013. PMID: 24246330
Scheinman SJ
Semin Nephrol 1999 Jul;19(4):381-8. PMID: 10435676

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: 30515543Free PMC Article
Prezioso D, Strazzullo P, Lotti T, Bianchi G, Borghi L, Caione P, Carini M, Caudarella R, Ferraro M, Gambaro G, Gelosa M, Guttilla A, Illiano E, Martino M, Meschi T, Messa P, Miano R, Napodano G, Nouvenne A, Rendina D, Rocco F, Rosa M, Sanseverino R, Salerno A, Spatafora S, Tasca A, Ticinesi A, Travaglini F, Trinchieri A, Vespasiani G, Zattoni F; CLU Working Group
Arch Ital Urol Androl 2015 Jul 7;87(2):105-20. doi: 10.4081/aiua.2015.2.105. PMID: 26150027
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
Sakhaee K
Miner Electrolyte Metab 1994;20(6):414-23. PMID: 7783705
Feld RD
Crit Rev Clin Lab Sci 1988;26(3):243-61. doi: 10.3109/10408368809105891. PMID: 3077031

Prognosis

Mekik Akar E, Özçakar ZB, Çakar N, Şeker E, Koç A, Yalçınkaya F
Clin Pediatr (Phila) 2023 Jun;62(6):548-550. Epub 2022 Dec 1 doi: 10.1177/00099228221140802. PMID: 36457163
Capolongo G, Zacchia M, Perna A, Viggiano D, Capasso G
Urolithiasis 2019 Feb;47(1):91-98. Epub 2018 Dec 18 doi: 10.1007/s00240-018-01104-y. PMID: 30564846
Sidhu A, Mittal A, Negroni-Balasquide X, Constantinescu A, Kozakowski K
Pediatrics 2016 Dec;138(6) Epub 2016 Nov 15 doi: 10.1542/peds.2016-0674. PMID: 27940671
Langman CB
Curr Opin Pediatr 2004 Apr;16(2):188-93. doi: 10.1097/00008480-200404000-00013. PMID: 15021200
Scheinman SJ
Semin Nephrol 1999 Jul;19(4):381-8. PMID: 10435676

Clinical prediction guides

Papatsoris A, Alba AB, Galán Llopis JA, Musafer MA, Alameedee M, Ather H, Caballero-Romeu JP, Costa-Bauzá A, Dellis A, El Howairis M, Gambaro G, Geavlete B, Halinski A, Hess B, Jaffry S, Kok D, Kouicem H, Llanes L, Lopez Martinez JM, Popov E, Rodgers A, Soria F, Stamatelou K, Trinchieri A, Tuerk C
Arch Ital Urol Androl 2024 Jun 27;96(2):12703. doi: 10.4081/aiua.2024.12703. PMID: 38934520
Ramya K, Krishnamurthy S, Manikandan R, Sivamurukan P, Naredi BK, Karunakar P
Indian J Pediatr 2021 Apr;88(4):345-350. Epub 2020 Aug 1 doi: 10.1007/s12098-020-03455-0. PMID: 32737767
Capolongo G, Zacchia M, Perna A, Viggiano D, Capasso G
Urolithiasis 2019 Feb;47(1):91-98. Epub 2018 Dec 18 doi: 10.1007/s00240-018-01104-y. PMID: 30564846
Knoll T, Zöllner A, Wendt-Nordahl G, Michel MS, Alken P
Pediatr Nephrol 2005 Jan;20(1):19-24. Epub 2004 Nov 25 doi: 10.1007/s00467-004-1663-1. PMID: 15602663
Yendt ER
Can Med Assoc J 1970 Mar 14;102(5):479-89. PMID: 5438766Free PMC Article

Recent systematic reviews

Bhatt NP, Deshpande AV, Starkey MR
J Nephrol 2024 Mar;37(2):293-308. Epub 2023 Nov 13 doi: 10.1007/s40620-023-01795-6. PMID: 37957454Free PMC Article
Servais A, Thomas K, Dello Strologo L, Sayer JA, Bekri S, Bertholet-Thomas A, Bultitude M, Capolongo G, Cerkauskiene R, Daudon M, Doizi S, Gillion V, Gràcia-Garcia S, Halbritter J, Heidet L, van den Heijkant M, Lemoine S, Knebelmann B, Emma F, Levtchenko E; Metabolic Nephropathy Workgroup of the European Reference Network for Rare Kidney Diseases (ERKNet) and eUROGEN
Kidney Int 2021 Jan;99(1):48-58. Epub 2020 Sep 9 doi: 10.1016/j.kint.2020.06.035. PMID: 32918941
Melessen IM, Henderickx MM, Merkx MM, van Etten-Jamaludin FS, Homan van der Heide JJ, Kamphuis GM
Minerva Urol Nefrol 2020 Aug;72(4):427-440. Epub 2020 Feb 19 doi: 10.23736/S0393-2249.20.03704-2. PMID: 32083421
Moore SL, Cook P, de Coninck V, Keller EX, Traxer O, Dragos L, Shergill IS, Somani BK
Curr Urol Rep 2019 Apr 15;20(6):27. doi: 10.1007/s11934-019-0891-7. PMID: 30989375

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