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Elevated intracellular cystine

MedGen UID:
871150
Concept ID:
C4025623
Finding
HPO: HP:0003358

Definition

An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated intracellular cystine

Conditions with this feature

Juvenile nephropathic cystinosis
MedGen UID:
75701
Concept ID:
C0268626
Congenital Abnormality
Cystinosis comprises three allelic phenotypes: Nephropathic cystinosis in untreated children is characterized by renal Fanconi syndrome, poor growth, hypophosphatemic/calcipenic rickets, impaired glomerular function resulting in complete glomerular failure, and accumulation of cystine in almost all cells, leading to cellular dysfunction with tissue and organ impairment. The typical untreated child has short stature, rickets, and photophobia. Failure to thrive is generally noticed after approximately age six months; signs of renal tubular Fanconi syndrome (polyuria, polydipsia, dehydration, and acidosis) appear as early as age six months; corneal crystals can be present before age one year and are always present after age 16 months. Prior to the use of renal transplantation and cystine-depleting therapy, the life span in nephropathic cystinosis was no longer than ten years. With these interventions, affected individuals can survive at least into the mid-forties or fifties with satisfactory quality of life. Intermediate cystinosis is characterized by all the typical manifestations of nephropathic cystinosis, but onset is at a later age. Renal glomerular failure occurs in all untreated affected individuals, usually between ages 15 and 25 years. The non-nephropathic (ocular) form of cystinosis is characterized clinically only by photophobia resulting from corneal cystine crystal accumulation.
Nephropathic cystinosis
MedGen UID:
419735
Concept ID:
C2931187
Disease or Syndrome
Cystinosis comprises three allelic phenotypes: Nephropathic cystinosis in untreated children is characterized by renal Fanconi syndrome, poor growth, hypophosphatemic/calcipenic rickets, impaired glomerular function resulting in complete glomerular failure, and accumulation of cystine in almost all cells, leading to cellular dysfunction with tissue and organ impairment. The typical untreated child has short stature, rickets, and photophobia. Failure to thrive is generally noticed after approximately age six months; signs of renal tubular Fanconi syndrome (polyuria, polydipsia, dehydration, and acidosis) appear as early as age six months; corneal crystals can be present before age one year and are always present after age 16 months. Prior to the use of renal transplantation and cystine-depleting therapy, the life span in nephropathic cystinosis was no longer than ten years. With these interventions, affected individuals can survive at least into the mid-forties or fifties with satisfactory quality of life. Intermediate cystinosis is characterized by all the typical manifestations of nephropathic cystinosis, but onset is at a later age. Renal glomerular failure occurs in all untreated affected individuals, usually between ages 15 and 25 years. The non-nephropathic (ocular) form of cystinosis is characterized clinically only by photophobia resulting from corneal cystine crystal accumulation.

Professional guidelines

Recent clinical studies

Etiology

Pitts HA, Cheng CK, Cheung JS, Sun MK, Yung YL, Chan HY, Wong RSM, Yip SF, Lau KN, Wong WS, Raghupathy R, Chan NPH, Ng MHL
Int J Mol Sci 2023 Jun 2;24(11) doi: 10.3390/ijms24119696. PMID: 37298647Free PMC Article
Homma T, Kobayashi S, Fujii J
Cells 2022 May 10;11(10) doi: 10.3390/cells11101603. PMID: 35626640Free PMC Article
Kazama M, Kato Y, Kakita A, Noguchi N, Urano Y, Masui K, Niida-Kawaguchi M, Yamamoto T, Watabe K, Kitagawa K, Shibata N
Neuropathology 2020 Dec;40(6):587-598. Epub 2020 Dec 10 doi: 10.1111/neup.12716. PMID: 33305472
Gultekingil Keser A, Topaloglu R, Bilginer Y, Besbas N
Minerva Pediatr 2014 Apr;66(2):123-30. PMID: 24835445
Angcajas AB, Hirai N, Kaneshiro K, Karim MR, Horii Y, Kubota M, Fujimura S, Kadowaki M
Biochem Biophys Res Commun 2014 Mar 28;446(1):8-14. Epub 2014 Jan 31 doi: 10.1016/j.bbrc.2014.01.117. PMID: 24486546

Diagnosis

Li SJ, Cao B, Lu ZY, Sun RB, Guo SH, Xie Y, Aa JY, Wang GJ
Acta Pharmacol Sin 2021 Dec;42(12):2132-2143. Epub 2021 Mar 3 doi: 10.1038/s41401-020-00610-3. PMID: 33658706Free PMC Article
Starheim KK, Holien T, Misund K, Johansson I, Baranowska KA, Sponaas AM, Hella H, Buene G, Waage A, Sundan A, Bjørkøy G
Blood Cancer J 2016 Jul 15;6(7):e446. doi: 10.1038/bcj.2016.56. PMID: 27421095Free PMC Article
Sumayao R, McEvoy B, Newsholme P, McMorrow T
J Physiol 2016 Jun 15;594(12):3353-70. Epub 2016 Apr 10 doi: 10.1113/JP271858. PMID: 26915455Free PMC Article
Gultekingil Keser A, Topaloglu R, Bilginer Y, Besbas N
Minerva Pediatr 2014 Apr;66(2):123-30. PMID: 24835445
Robert SM, Ogunrinu-Babarinde T, Holt KT, Sontheimer H
Neurochem Int 2014 Jul;73:181-91. Epub 2014 Jan 10 doi: 10.1016/j.neuint.2014.01.001. PMID: 24418113Free PMC Article

Therapy

Cui J, Zhao S, Chen H, Fu Y, Han K, Yin S, Zhao C, Fan L, Hu H
Biochem Pharmacol 2023 Sep;215:115690. Epub 2023 Jul 20 doi: 10.1016/j.bcp.2023.115690. PMID: 37481142
Wang SF, Chang YL, Fang WL, Li AF, Chen CF, Yeh TS, Hung GY, Huang KH, Lee HC
Cancer Sci 2023 Aug;114(8):3301-3317. Epub 2023 Jun 1 doi: 10.1111/cas.15869. PMID: 37260027Free PMC Article
Li SJ, Cao B, Lu ZY, Sun RB, Guo SH, Xie Y, Aa JY, Wang GJ
Acta Pharmacol Sin 2021 Dec;42(12):2132-2143. Epub 2021 Mar 3 doi: 10.1038/s41401-020-00610-3. PMID: 33658706Free PMC Article
Hollywood JA, Przepiorski A, D'Souza RF, Sreebhavan S, Wolvetang EJ, Harrison PT, Davidson AJ, Holm TM
J Am Soc Nephrol 2020 May;31(5):962-982. Epub 2020 Mar 20 doi: 10.1681/ASN.2019070712. PMID: 32198276Free PMC Article
Dröge W
Pharmacology 1993;46(2):61-5. doi: 10.1159/000139029. PMID: 8441757

Prognosis

Wang N, Hu Y, Wang S, Xu Q, Jiao X, Wang Y, Yan L, Cao H, Shao F
Sci Rep 2024 Jan 5;14(1):624. doi: 10.1038/s41598-024-51197-2. PMID: 38182642Free PMC Article
Pitts HA, Cheng CK, Cheung JS, Sun MK, Yung YL, Chan HY, Wong RSM, Yip SF, Lau KN, Wong WS, Raghupathy R, Chan NPH, Ng MHL
Int J Mol Sci 2023 Jun 2;24(11) doi: 10.3390/ijms24119696. PMID: 37298647Free PMC Article
Wang SF, Chang YL, Fang WL, Li AF, Chen CF, Yeh TS, Hung GY, Huang KH, Lee HC
Cancer Sci 2023 Aug;114(8):3301-3317. Epub 2023 Jun 1 doi: 10.1111/cas.15869. PMID: 37260027Free PMC Article
Gultekingil Keser A, Topaloglu R, Bilginer Y, Besbas N
Minerva Pediatr 2014 Apr;66(2):123-30. PMID: 24835445
Banjac A, Perisic T, Sato H, Seiler A, Bannai S, Weiss N, Kölle P, Tschoep K, Issels RD, Daniel PT, Conrad M, Bornkamm GW
Oncogene 2008 Mar 6;27(11):1618-28. Epub 2007 Sep 10 doi: 10.1038/sj.onc.1210796. PMID: 17828297

Clinical prediction guides

Wang SF, Chang YL, Fang WL, Li AF, Chen CF, Yeh TS, Hung GY, Huang KH, Lee HC
Cancer Sci 2023 Aug;114(8):3301-3317. Epub 2023 Jun 1 doi: 10.1111/cas.15869. PMID: 37260027Free PMC Article
Hollywood JA, Przepiorski A, D'Souza RF, Sreebhavan S, Wolvetang EJ, Harrison PT, Davidson AJ, Holm TM
J Am Soc Nephrol 2020 May;31(5):962-982. Epub 2020 Mar 20 doi: 10.1681/ASN.2019070712. PMID: 32198276Free PMC Article
Jurkowska H, Wróbel M
Anticancer Res 2018 Jun;38(6):3501-3505. doi: 10.21873/anticanres.12621. PMID: 29848703
Cramer SL, Saha A, Liu J, Tadi S, Tiziani S, Yan W, Triplett K, Lamb C, Alters SE, Rowlinson S, Zhang YJ, Keating MJ, Huang P, DiGiovanni J, Georgiou G, Stone E
Nat Med 2017 Jan;23(1):120-127. Epub 2016 Nov 21 doi: 10.1038/nm.4232. PMID: 27869804Free PMC Article
Hanigan MH
Adv Cancer Res 2014;122:103-41. doi: 10.1016/B978-0-12-420117-0.00003-7. PMID: 24974180Free PMC Article

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