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Elevated urinary inosine level

MedGen UID:
1052458
•Concept ID:
CN376443
•
Finding
HPO: HP:0040422

Definition

The amount of inosine in the urine, normalized for urine concentration, is above the upper limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated urinary inosine level

Conditions with this feature

Purine-nucleoside phosphorylase deficiency
MedGen UID:
75653
•Concept ID:
C0268125
•
Disease or Syndrome
Purine nucleoside phosphorylase deficiency is a rare autosomal recessive immunodeficiency disorder characterized mainly by decreased T-cell function. Some patients also have neurologic impairment (review by Aust et al., 1992).
See: Condition Record
Purine-nucleoside phosphorylase deficiency

Recent clinical studies

Etiology

Urinary Metabolomic Profile of Youth at Risk of Chronic Kidney Disease in Nicaragua.
Hall SM, Raines NH, Ramirez-Rubio O, Amador JJ, López-Pilarte D, O'Callaghan-Gordo C, Gil-Redondo R, Embade N, Millet O, Peng X, Vences S, Keogh SA, Delgado IS, Friedman DJ, Brooks DR, Leibler JH
Kidney360 2023 Jul 1;4(7):899-908. Epub 2023 Apr 17 doi: 10.34067/KID.0000000000000129. PMID: 37068179Free PMC Article
Effects of elevated serum urate on cardiometabolic and kidney function markers in a randomised clinical trial of inosine supplementation.
Dalbeth N, Mihov B, Stewart A, Gamble GD, Merriman TR, Mount D, Reid IR, Stamp LK, Horne A
Sci Rep 2022 Jul 28;12(1):12887. doi: 10.1038/s41598-022-17257-1. PMID: 35902652Free PMC Article
Urinary excretion of modified nucleosides in chronic myelogenous leukemia.
Heldman DA, Grever MR, Speicher CE, Trewyn RW
J Lab Clin Med 1983 May;101(5):783-92. PMID: 6572681

Diagnosis

Uricase-deficient rats with similarly stable serum uric acid to human's are sensitive model animals for studying hyperuricemia.
Gao Y, Yu Y, Qin W, Fan N, Qi Y, Chen H, Duan W
PLoS One 2022;17(3):e0264696. Epub 2022 Mar 3 doi: 10.1371/journal.pone.0264696. PMID: 35239728Free PMC Article
Elevated expression of IMPDH2 is associated with progression of kidney and bladder cancer.
Zou J, Han Z, Zhou L, Cai C, Luo H, Huang Y, Liang Y, He H, Jiang F, Wang C, Zhong W
Med Oncol 2015 Jan;32(1):373. Epub 2014 Dec 3 doi: 10.1007/s12032-014-0373-1. PMID: 25465060
Urinary modified nucleosides as tumor markers in cancer of the urinary organs or female genital tract.
Koshida K, Harmenberg J, Stendahl U, Wahren B, Borgström E, Helström L, Andersson L
Urol Res 1985;13(5):213-8. doi: 10.1007/BF00261578. PMID: 4060364
Biological markers in breast carcinoma--clinical correlations with pseudouridine, N2,N2-dimethylguanosine, and 1-methylinosine.
Tormey DC, Waalkes TP, Gehrke CW
J Surg Oncol 1980;14(3):267-73. doi: 10.1002/jso.2930140313. PMID: 7392649
A quantitative approach to determining disease response during therapy using multiple biologic markers: application to carcinoma of the breast.
Woo KB, Waalkes TP, Ahmann DL, Tormey DC, Gehrke CW, Oliverio VT
Cancer 1978 May;41(5):1685-703. doi: 10.1002/1097-0142(197805)41:5<1685::aid-cncr2820410507>3.0.co;2-9. PMID: 348295

Therapy

Effects of elevated serum urate on cardiometabolic and kidney function markers in a randomised clinical trial of inosine supplementation.
Dalbeth N, Mihov B, Stewart A, Gamble GD, Merriman TR, Mount D, Reid IR, Stamp LK, Horne A
Sci Rep 2022 Jul 28;12(1):12887. doi: 10.1038/s41598-022-17257-1. PMID: 35902652Free PMC Article
Phase I evaluation and pharmacokinetics of tiazofurin (2-beta-D-ribofuranosylthiazole-4-carboxamide, NSC 286193).
Melink TJ, Von Hoff DD, Kuhn JG, Hersh MR, Sternson LA, Patton TF, Siegler R, Boldt DH, Clark GM
Cancer Res 1985 Jun;45(6):2859-65. PMID: 3986813
Biological markers in breast carcinoma--clinical correlations with pseudouridine, N2,N2-dimethylguanosine, and 1-methylinosine.
Tormey DC, Waalkes TP, Gehrke CW
J Surg Oncol 1980;14(3):267-73. doi: 10.1002/jso.2930140313. PMID: 7392649

Prognosis

Phase I evaluation and pharmacokinetics of tiazofurin (2-beta-D-ribofuranosylthiazole-4-carboxamide, NSC 286193).
Melink TJ, Von Hoff DD, Kuhn JG, Hersh MR, Sternson LA, Patton TF, Siegler R, Boldt DH, Clark GM
Cancer Res 1985 Jun;45(6):2859-65. PMID: 3986813
Biological markers in breast carcinoma--clinical correlations with pseudouridine, N2,N2-dimethylguanosine, and 1-methylinosine.
Tormey DC, Waalkes TP, Gehrke CW
J Surg Oncol 1980;14(3):267-73. doi: 10.1002/jso.2930140313. PMID: 7392649
Cellular immune deficiency with autoimmune hemolytic anemia in purine nucleoside phosphorylase deficiency.
Rich KC, Arnold WJ, Palella T, Fox IH
Am J Med 1979 Jul;67(1):172-6. doi: 10.1016/0002-9343(79)90100-1. PMID: 111549

Clinical prediction guides

Urinary Metabolomic Profile of Youth at Risk of Chronic Kidney Disease in Nicaragua.
Hall SM, Raines NH, Ramirez-Rubio O, Amador JJ, López-Pilarte D, O'Callaghan-Gordo C, Gil-Redondo R, Embade N, Millet O, Peng X, Vences S, Keogh SA, Delgado IS, Friedman DJ, Brooks DR, Leibler JH
Kidney360 2023 Jul 1;4(7):899-908. Epub 2023 Apr 17 doi: 10.34067/KID.0000000000000129. PMID: 37068179Free PMC Article
Effects of elevated serum urate on cardiometabolic and kidney function markers in a randomised clinical trial of inosine supplementation.
Dalbeth N, Mihov B, Stewart A, Gamble GD, Merriman TR, Mount D, Reid IR, Stamp LK, Horne A
Sci Rep 2022 Jul 28;12(1):12887. doi: 10.1038/s41598-022-17257-1. PMID: 35902652Free PMC Article
Elevated expression of IMPDH2 is associated with progression of kidney and bladder cancer.
Zou J, Han Z, Zhou L, Cai C, Luo H, Huang Y, Liang Y, He H, Jiang F, Wang C, Zhong W
Med Oncol 2015 Jan;32(1):373. Epub 2014 Dec 3 doi: 10.1007/s12032-014-0373-1. PMID: 25465060
Reversed-phase high-performance liquid chromatographic investigation of mucosal nucleosides and bases and urinary modified nucleosides of gastrointestinal cancer patients.
Nakano K, Shindo K, Yasaka T, Yamamoto H
J Chromatogr 1985 Sep 13;343(1):21-33. doi: 10.1016/s0378-4347(00)84564-8. PMID: 4066857
Biological markers in breast carcinoma--clinical correlations with pseudouridine, N2,N2-dimethylguanosine, and 1-methylinosine.
Tormey DC, Waalkes TP, Gehrke CW
J Surg Oncol 1980;14(3):267-73. doi: 10.1002/jso.2930140313. PMID: 7392649

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