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Elevated serum bicarbonate concentration

MedGen UID:
1671049
Concept ID:
C4732834
Finding
Synonym: Elevated serum HCO3 concentration
 
HPO: HP:0032067

Definition

An abnormal increase in the concentration of bicarbonate, HCO3[-], in the circulation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated serum bicarbonate concentration

Conditions with this feature

Congenital secretory diarrhea, chloride type
MedGen UID:
78631
Concept ID:
C0267662
Disease or Syndrome
Congenital secretory chloride diarrhea is an autosomal recessive form of severe chronic diarrhea characterized by excretion of large amounts of watery stool containing high levels of chloride, resulting in dehydration, hypokalemia, and metabolic alkalosis. The electrolyte disorder resembles the renal disorder Bartter syndrome (see 607364), except that chloride diarrhea is not associated with calcium level abnormalities (summary by Choi et al., 2009). Genetic Heterogeneity of Diarrhea Other forms of diarrhea include DIAR2 (251850), caused by mutation in the MYO5B gene (606540) on 18q21; DIAR3 (270420), caused by mutation in the SPINT2 gene (605124) on 19q13; DIAR4 (610370), caused by mutation in the NEUROG3 gene (604882) on 10q21; DIAR5 (613217), caused by mutation in the EPCAM gene (185535) on 2p21; DIAR6 (614616), caused by mutation in the GUCY2C gene (601330) on 12p12; DIAR7 (615863) caused by mutation in the DGAT1 gene (604900) on 8q24; DIAR8 (616868), caused by mutation in the SLC9A3 gene (182307) on 5p15; DIAR9 (618168), caused by mutation in the WNT2B gene (601968) on 1p13; DIAR10 (618183), caused by mutation in the PLVAP gene (607647) on 19p13; DIAR11 (618662), caused by deletion of the intestine critical region (ICR) on chromosome 16p13, resulting in loss of expression of the flanking gene PERCC1 (618656); DIAR12 (619445), caused by mutation in the STX3 gene (600876) on 11q12; and DIAR13 (620357), caused by mutation in the ACSL5 gene (605677) on chromosome 10q25.
EAST syndrome
MedGen UID:
411243
Concept ID:
C2748572
Disease or Syndrome
Syndrome with characteristics of seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance. It has been described in five patients from four families. The disease is caused by homozygous or compound heterozygous mutations in the KCNJ10 gene, encoding a potassium channel expressed in the brain, spinal cord, inner ear and kidneys. Transmission is autosomal recessive.

Professional guidelines

PubMed

Long B, Warix JR, Koyfman A
J Emerg Med 2018 Aug;55(2):192-205. Epub 2018 May 3 doi: 10.1016/j.jemermed.2018.04.004. PMID: 29731287
Westerberg DP
Am Fam Physician 2013 Mar 1;87(5):337-46. PMID: 23547550
Kraut JA, Madias NE
Nat Rev Nephrol 2010 May;6(5):274-85. Epub 2010 Mar 23 doi: 10.1038/nrneph.2010.33. PMID: 20308999

Recent clinical studies

Etiology

Hsu S, Bansal N, Denburg M, Ginsberg C, Hoofnagle AN, Isakova T, Ix JH, Robinson-Cohen C, Wolf M, Kestenbaum BR, de Boer IH, Zelnick LR
J Bone Miner Res 2024 May 2;39(4):433-442. doi: 10.1093/jbmr/zjae021. PMID: 38477777Free PMC Article
Elshorbagy HH, Barseem NF, Elsadek AE, Al-shokary AH, Maksoud YHA, Abdulsamea SE, Talaat IM, Suliman HA, Kamal NM, Abdelghani WE, Azab SM, El Din DMN
J Clin Res Pediatr Endocrinol 2019 Nov 22;11(4):374-387. Epub 2019 May 9 doi: 10.4274/jcrpe.galenos.2019.2018.0280. PMID: 31067852Free PMC Article
Thornley-Brown D, Saha M
Curr Opin Nephrol Hypertens 2015 Nov;24(6):557-62. doi: 10.1097/MNH.0000000000000177. PMID: 26406807
Kraut JA, Madias NE
Nat Rev Nephrol 2010 May;6(5):274-85. Epub 2010 Mar 23 doi: 10.1038/nrneph.2010.33. PMID: 20308999
Singhal PC, Abramovici M, Venkatesan J, Mattana J
Miner Electrolyte Metab 1991;17(5):335-9. PMID: 1819766

Diagnosis

Perrotta AM, Rotondi S, Mazzaferro S, Bosi L, Letizia C, Muscaritoli M, Gigante A, Salciccia S, Pasculli P, Ciardi MR, Tinti F, Galani A, Errigo F, Menè P, Cianci R, Mitterhofer AP, Mastroianni CM, Palange P, Lai S
Eur Rev Med Pharmacol Sci 2023 Aug;27(16):7861-7867. doi: 10.26355/eurrev_202308_33441. PMID: 37667963
Seifter JL
Eur J Clin Nutr 2020 Aug;74(Suppl 1):83-86. doi: 10.1038/s41430-020-0685-5. PMID: 32873962
Long B, Warix JR, Koyfman A
J Emerg Med 2018 Aug;55(2):192-205. Epub 2018 May 3 doi: 10.1016/j.jemermed.2018.04.004. PMID: 29731287
Westerberg DP
Am Fam Physician 2013 Mar 1;87(5):337-46. PMID: 23547550
Kraut JA, Madias NE
Nat Rev Nephrol 2010 May;6(5):274-85. Epub 2010 Mar 23 doi: 10.1038/nrneph.2010.33. PMID: 20308999

Therapy

Liphardt AM, Godonou ET, Dreiner M, Mündermann A, Tascilar K, Djalal N, Heer M, Schett G, Zaucke F, Niehoff A
Osteoarthritis Cartilage 2024 Feb;32(2):177-186. Epub 2023 Nov 19 doi: 10.1016/j.joca.2023.11.007. PMID: 37989468
Parsell D, Shao J, Guttendorf R, Mathur V, Li E, Wu YS, Tsao L, Tabakman S, Stasiv Y, Lee A, Biyani K, Klaerner G
Drug Metab Dispos 2021 Jul;49(7):490-500. Epub 2021 May 24 doi: 10.1124/dmd.121.000366. PMID: 34031138
Long B, Warix JR, Koyfman A
J Emerg Med 2018 Aug;55(2):192-205. Epub 2018 May 3 doi: 10.1016/j.jemermed.2018.04.004. PMID: 29731287
Westerberg DP
Am Fam Physician 2013 Mar 1;87(5):337-46. PMID: 23547550
Kraut JA, Madias NE
Nat Rev Nephrol 2010 May;6(5):274-85. Epub 2010 Mar 23 doi: 10.1038/nrneph.2010.33. PMID: 20308999

Prognosis

Perrotta AM, Rotondi S, Mazzaferro S, Bosi L, Letizia C, Muscaritoli M, Gigante A, Salciccia S, Pasculli P, Ciardi MR, Tinti F, Galani A, Errigo F, Menè P, Cianci R, Mitterhofer AP, Mastroianni CM, Palange P, Lai S
Eur Rev Med Pharmacol Sci 2023 Aug;27(16):7861-7867. doi: 10.26355/eurrev_202308_33441. PMID: 37667963
Zakharov S, Kotikova K, Nurieva O, Hlusicka J, Kacer P, Urban P, Vaneckova M, Seidl Z, Diblik P, Kuthan P, Navratil T, Pelclova D
Clin Toxicol (Phila) 2017 Apr;55(4):249-259. Epub 2017 Feb 6 doi: 10.1080/15563650.2017.1284332. PMID: 28165820
Obi Y, Mehrotra R, Rivara MB, Streja E, Rhee CM, Lau WL, Kovesdy CP, Kalantar-Zadeh K
J Clin Endocrinol Metab 2016 Jun;101(6):2440-9. Epub 2016 Apr 5 doi: 10.1210/jc.2016-1369. PMID: 27045726Free PMC Article
Yamamoto T, Shoji S, Yamakawa T, Wada A, Suzuki K, Iseki K, Tsubakihara Y
Am J Kidney Dis 2015 Sep;66(3):469-78. Epub 2015 May 23 doi: 10.1053/j.ajkd.2015.04.014. PMID: 26015276
Bicik Z, Coskun A, Serteser M, Bulur A, Mese M, Unsal I
J Clin Lab Anal 2014 Mar;28(2):114-7. Epub 2014 Jan 6 doi: 10.1002/jcla.21653. PMID: 24395628Free PMC Article

Clinical prediction guides

Perrotta AM, Rotondi S, Mazzaferro S, Bosi L, Letizia C, Muscaritoli M, Gigante A, Salciccia S, Pasculli P, Ciardi MR, Tinti F, Galani A, Errigo F, Menè P, Cianci R, Mitterhofer AP, Mastroianni CM, Palange P, Lai S
Eur Rev Med Pharmacol Sci 2023 Aug;27(16):7861-7867. doi: 10.26355/eurrev_202308_33441. PMID: 37667963
Cullis B, Al-Hwiesh A, Kilonzo K, McCulloch M, Niang A, Nourse P, Parapiboon W, Ponce D, Finkelstein FO
Perit Dial Int 2021 Jan;41(1):15-31. Epub 2020 Dec 3 doi: 10.1177/0896860820970834. PMID: 33267747
Seifter JL
Eur J Clin Nutr 2020 Aug;74(Suppl 1):83-86. doi: 10.1038/s41430-020-0685-5. PMID: 32873962
Thornley-Brown D, Saha M
Curr Opin Nephrol Hypertens 2015 Nov;24(6):557-62. doi: 10.1097/MNH.0000000000000177. PMID: 26406807
Kraut JA, Madias NE
Clin J Am Soc Nephrol 2007 Jan;2(1):162-74. Epub 2006 Dec 6 doi: 10.2215/CJN.03020906. PMID: 17699401

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