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Increased intracellular sodium

MedGen UID:
871124
Concept ID:
C4025593
Finding
Synonyms: High intracellular Na; Increased intracellular Na+ levels
 
HPO: HP:0003575

Definition

An abnormally increased sodium concentration in the cytosol. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased intracellular sodium

Conditions with this feature

Overhydrated hereditary stomatocytosis
MedGen UID:
348876
Concept ID:
C1861455
Disease or Syndrome
Overhydrated hereditary stomatocytosis is a variably compensated macrocytic hemolytic anemia of fluctuating severity, characterized by circulating erythrocytes with slit-like lucencies (stomata) evident on peripheral blood smears. OHST red cells exhibit cation leak, resulting in elevated cell Na+ content with reduced K+ content, with increased ouabain-resistant cation leak fluxes in the presence of presumably compensatory increases in ouabain-sensitive Na(+)-K(+) ATPase activity, and red cell age-dependent loss of stomatin/EBP7.2 (EBP72; 133090) from the erythroid membrane. Clinically, patients with OHST exhibit overhydrated erythrocytes and a temperature-dependent red cell cation leak. The temperature dependence of the leak is 'monotonic' and has a steep slope, reflecting the very large leak at 37 degrees centigrade (summary by Bruce, 2009 and Stewart et al., 2011). For a discussion of clinical and genetic heterogeneity of the hereditary stomatocytoses, see 194380.

Professional guidelines

PubMed

Mondellini GM, Verbrugge FH
Curr Heart Fail Rep 2024 Jun;21(3):252-261. Epub 2024 Feb 27 doi: 10.1007/s11897-024-00651-3. PMID: 38411885
Miner PB Jr
Drug Saf 2019 May;42(5):603-615. doi: 10.1007/s40264-018-0781-9. PMID: 30649746
Kollmann-Camaiora A, Alsina E, Domínguez A, Del Blanco B, Yepes MJ, Guerrero JL, García A
Rev Esp Anestesiol Reanim 2017 Jan;64(1):32-40. Epub 2016 Sep 12 doi: 10.1016/j.redar.2016.06.004. PMID: 27633384

Recent clinical studies

Etiology

Kwiatkowski S, Kwiatkowska E, Czajka R, Ciechanowski K, Kedzierska K, Bober J, Rzepka R, Golembiewska E, Chlubek D
Hypertens Pregnancy 2006;25(1):37-46. doi: 10.1080/10641950600601835. PMID: 16613790
McCarty MF
Med Hypotheses 2005;64(5):1027-9. doi: 10.1016/j.mehy.2003.10.033. PMID: 15780505
Shima H, Nishio I, Tsuda K, Yoshikawa H, Kimura K, Hano T, Masuyama Y
Jpn J Med 1989 Mar-Apr;28(2):165-9. doi: 10.2169/internalmedicine1962.28.165. PMID: 2525203
Hunt SC, Wu LL, Stults BM, Williams RR
Clin Biochem 1988 Jun;21(3):183-6. doi: 10.1016/0009-9120(88)90008-2. PMID: 3390908
Henningsen NC, Ohlsson O, Mattson S, Nosslin B
Eur J Nucl Med 1982;7(5):225-8. doi: 10.1007/BF00256469. PMID: 6807673

Diagnosis

Abdelsayed M, Baruteau AE, Gibbs K, Sanatani S, Krahn AD, Probst V, Ruben PC
J Physiol 2017 Sep 15;595(18):6165-6186. Epub 2017 Aug 20 doi: 10.1113/JP274536. PMID: 28734073Free PMC Article
Kwiatkowski S, Kwiatkowska E, Czajka R, Ciechanowski K, Kedzierska K, Bober J, Rzepka R, Golembiewska E, Chlubek D
Hypertens Pregnancy 2006;25(1):37-46. doi: 10.1080/10641950600601835. PMID: 16613790
Hunt SC, Wu LL, Stults BM, Williams RR
Clin Biochem 1988 Jun;21(3):183-6. doi: 10.1016/0009-9120(88)90008-2. PMID: 3390908
Zemel MB, Sowers JR
Am J Cardiol 1988 Jun 15;61(16):7H-12H. doi: 10.1016/0002-9149(88)91098-3. PMID: 3289354
Abboud FM
Hypertension 1982 May-Jun;4(3 Pt 2):208-25. PMID: 7040239

Therapy

McCarty MF
Med Hypotheses 2005;64(5):1027-9. doi: 10.1016/j.mehy.2003.10.033. PMID: 15780505
Schömig A, Rehmert G, Kurz T, Richardt G
J Cardiovasc Pharmacol 1992;20 Suppl 7:S16-20. PMID: 1284151
Shima H, Nishio I, Tsuda K, Yoshikawa H, Kimura K, Hano T, Masuyama Y
Jpn J Med 1989 Mar-Apr;28(2):165-9. doi: 10.2169/internalmedicine1962.28.165. PMID: 2525203
Zemel MB, Sowers JR
Am J Cardiol 1988 Jun 15;61(16):7H-12H. doi: 10.1016/0002-9149(88)91098-3. PMID: 3289354

Clinical prediction guides

Baumgart P, Zidek W, Losse H, Karoff C, Wehling M, Vetter W, Vetter H
Klin Wochenschr 1983 Aug 15;61(16):803-5. doi: 10.1007/BF01496724. PMID: 6632721

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