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Elevated leukocyte cystine

MedGen UID:
1709721
Concept ID:
C5397656
Finding
HPO: HP:0032639

Definition

An increased concentration of cystine within white blood cells. [from HPO]

Term Hierarchy

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

Conditions with this feature

Ocular cystinosis
MedGen UID:
419313
Concept ID:
C2931013
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.
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

PubMed

Dröge W
Pharmacology 1993;46(2):61-5. doi: 10.1159/000139029. PMID: 8441757
Dröge W, Eck HP, Mihm S
Immunol Today 1992 Jun;13(6):211-4. doi: 10.1016/0167-5699(92)90156-2. PMID: 1378279

Recent clinical studies

Etiology

Nemutlu E, Ozaltin F, Yabanoglu-Ciftci S, Gulhan B, Eylem CC, Baysal İ, Gök-Topak ED, Ulubayram K, Sezerman OU, Ucar G, Kır S, Topaloglu R
Int J Mol Sci 2023 Jan 30;24(3) doi: 10.3390/ijms24032603. PMID: 36768921Free PMC Article
Owen EP, Nandhlal J, Leisegang F, Van der Watt G, Nourse P, Gajjar P
Pediatr Nephrol 2015 Apr;30(4):595-601. Epub 2014 Oct 18 doi: 10.1007/s00467-014-2980-7. PMID: 25326109
Pattison DI, Davies MJ
Curr Med Chem 2006;13(27):3271-90. doi: 10.2174/092986706778773095. PMID: 17168851
Smolin LA, Clark KF, Thoene JG, Gahl WA, Schneider JA
Pediatr Res 1988 Jun;23(6):616-20. doi: 10.1203/00006450-198806000-00018. PMID: 3393396
Gahl WA, Thoene JG, Schneider JA, O'Regan S, Kaiser-Kupfer MI, Kuwabara T
Ann Intern Med 1988 Oct 1;109(7):557-69. doi: 10.7326/0003-4819-109-7-557. PMID: 3048161

Diagnosis

Nemutlu E, Ozaltin F, Yabanoglu-Ciftci S, Gulhan B, Eylem CC, Baysal İ, Gök-Topak ED, Ulubayram K, Sezerman OU, Ucar G, Kır S, Topaloglu R
Int J Mol Sci 2023 Jan 30;24(3) doi: 10.3390/ijms24032603. PMID: 36768921Free PMC Article
Bondue T, Kouraich A, Berlingerio SP, Veys K, Marie S, Alsaad KO, Al-Sabban E, Levtchenko E, van den Heuvel L
Int J Mol Sci 2023 Jan 9;24(2) doi: 10.3390/ijms24021253. PMID: 36674769Free PMC Article
Papizh S, Serzhanova V, Filatova A, Skoblov M, Tabakov V, van den Heuvel L, Levtchenko E, Prikhodina L
BMC Nephrol 2019 Oct 31;20(1):400. doi: 10.1186/s12882-019-1589-2. PMID: 31672123Free PMC Article
Owen EP, Nandhlal J, Leisegang F, Van der Watt G, Nourse P, Gajjar P
Pediatr Nephrol 2015 Apr;30(4):595-601. Epub 2014 Oct 18 doi: 10.1007/s00467-014-2980-7. PMID: 25326109
Gahl WA, Thoene JG, Schneider JA, O'Regan S, Kaiser-Kupfer MI, Kuwabara T
Ann Intern Med 1988 Oct 1;109(7):557-69. doi: 10.7326/0003-4819-109-7-557. PMID: 3048161

Therapy

Dohil R, Fidler M, Barshop BA, Gangoiti J, Deutsch R, Martin M, Schneider JA
J Pediatr 2006 Jun;148(6):764-9. doi: 10.1016/j.jpeds.2006.01.050. PMID: 16769383
Dröge W
Pharmacology 1993;46(2):61-5. doi: 10.1159/000139029. PMID: 8441757
Dröge W, Eck HP, Mihm S
Immunol Today 1992 Jun;13(6):211-4. doi: 10.1016/0167-5699(92)90156-2. PMID: 1378279
Smolin LA, Clark KF, Thoene JG, Gahl WA, Schneider JA
Pediatr Res 1988 Jun;23(6):616-20. doi: 10.1203/00006450-198806000-00018. PMID: 3393396
Gahl WA, Thoene JG, Schneider JA, O'Regan S, Kaiser-Kupfer MI, Kuwabara T
Ann Intern Med 1988 Oct 1;109(7):557-69. doi: 10.7326/0003-4819-109-7-557. PMID: 3048161

Prognosis

Wang H, Xu L, Tang X, Jiang Z, Feng X
Lipids Health Dis 2024 Apr 29;23(1):128. doi: 10.1186/s12944-024-02116-x. PMID: 38685023Free PMC Article
Pattison DI, Davies MJ
Curr Med Chem 2006;13(27):3271-90. doi: 10.2174/092986706778773095. PMID: 17168851
Eck HP, Drings P, Dröge W
J Cancer Res Clin Oncol 1989;115(6):571-4. doi: 10.1007/BF00391360. PMID: 2558118

Clinical prediction guides

Bondue T, Kouraich A, Berlingerio SP, Veys K, Marie S, Alsaad KO, Al-Sabban E, Levtchenko E, van den Heuvel L
Int J Mol Sci 2023 Jan 9;24(2) doi: 10.3390/ijms24021253. PMID: 36674769Free PMC Article
Long Y, Tao H, Karachi A, Grippin AJ, Jin L, Chang YE, Zhang W, Dyson KA, Hou AY, Na M, Deleyrolle LP, Sayour EJ, Rahman M, Mitchell DA, Lin Z, Huang J
Cancer Res 2020 Feb 1;80(3):499-509. Epub 2019 Nov 13 doi: 10.1158/0008-5472.CAN-19-1577. PMID: 31723000
Pattison DI, Davies MJ
Curr Med Chem 2006;13(27):3271-90. doi: 10.2174/092986706778773095. PMID: 17168851
Eck HP, Drings P, Dröge W
J Cancer Res Clin Oncol 1989;115(6):571-4. doi: 10.1007/BF00391360. PMID: 2558118
Smolin LA, Clark KF, Thoene JG, Gahl WA, Schneider JA
Pediatr Res 1988 Jun;23(6):616-20. doi: 10.1203/00006450-198806000-00018. PMID: 3393396

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