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Decreased serum bicarbonate concentration

MedGen UID:
1670967
Concept ID:
C4732833
Finding
Synonym: Decreased serum HCO3 concentration
 
HPO: HP:0032066

Definition

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

Term Hierarchy

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

Conditions with this feature

Carnitine palmitoyl transferase II deficiency, neonatal form
MedGen UID:
318896
Concept ID:
C1833518
Disease or Syndrome
Carnitine palmitoyltransferase II (CPT II) deficiency is a disorder of long-chain fatty-acid oxidation. The three clinical presentations are lethal neonatal form, severe infantile hepatocardiomuscular form, and myopathic form (which is usually mild and can manifest from infancy to adulthood). While the former two are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia, cardiomyopathy, seizures, and early death, the latter is characterized by exercise-induced muscle pain and weakness, sometimes associated with myoglobinuria. The myopathic form of CPT II deficiency is the most common disorder of lipid metabolism affecting skeletal muscle and the most frequent cause of hereditary myoglobinuria. Males are more likely to be affected than females.
Pseudohypoaldosteronism type 2C
MedGen UID:
327089
Concept ID:
C1840391
Disease or Syndrome
Pseudohypoaldosteronism type II (PHAII) is characterized by hyperkalemia despite normal glomerular filtration rate (GFR) and frequently by hypertension. Other associated findings in both children and adults include hyperchloremia, metabolic acidosis, and suppressed plasma renin levels. Aldosterone levels are variable, but are relatively low given the degree of hyperkalemia (elevated serum potassium is a potent stimulus for aldosterone secretion). Hypercalciuria is well described.
Autosomal recessive proximal renal tubular acidosis
MedGen UID:
370883
Concept ID:
C1970309
Disease or Syndrome
A rare autosomal recessive form of proximal renal tubular acidosis characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage. Presentation is typically with hyperchloremic acidosis, usually occurring in childhood. Extrarenal manifestations include ocular abnormalities (band keratopathy, glaucoma, and cataracts), intellectual disability and severe growth retardation. Other features like dental enamel defects, basal ganglia calcification and pancreatitis are sometimes present.

Professional guidelines

PubMed

Adrogué HJ, Madias NE
Am J Kidney Dis 2020 Dec;76(6):861-867. Epub 2020 Sep 10 doi: 10.1053/j.ajkd.2020.07.019. PMID: 32920151
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
Kraut JA, Kurtz I
Clin J Am Soc Nephrol 2008 Jan;3(1):208-25. Epub 2007 Nov 28 doi: 10.2215/CJN.03220807. PMID: 18045860

Recent clinical studies

Etiology

Mudunuru SA, Navarrete J, O'Neill WC
Semin Dial 2023 Jan;36(1):24-28. Epub 2022 Apr 5 doi: 10.1111/sdi.13068. PMID: 35384078
Joki N, Tokumoto M, Takahashi N, Nishimura M
Contrib Nephrol 2018;196:5-12. Epub 2018 Jul 24 doi: 10.1159/000485690. PMID: 30041198
Wan S, Roberts MA, Mount P
Cochrane Database Syst Rev 2016 Aug 9;2016(8):CD010741. doi: 10.1002/14651858.CD010741.pub2. PMID: 27502170Free PMC Article
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
Liebman SE, Taylor JG, Bushinsky DA
Curr Rheumatol Rep 2007 Jun;9(3):251-7. doi: 10.1007/s11926-007-0040-z. PMID: 17531180

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
Kraut JA, Madias NE
Am J Kidney Dis 2016 Feb;67(2):307-17. Epub 2015 Oct 23 doi: 10.1053/j.ajkd.2015.08.028. PMID: 26477665
Kitterer D, Schwab M, Alscher MD, Braun N, Latus J
Pediatr Nephrol 2015 Sep;30(9):1407-23. Epub 2014 Nov 5 doi: 10.1007/s00467-014-2958-5. PMID: 25370778
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
Liebman SE, Taylor JG, Bushinsky DA
Curr Rheumatol Rep 2007 Jun;9(3):251-7. doi: 10.1007/s11926-007-0040-z. PMID: 17531180

Therapy

Mudunuru SA, Navarrete J, O'Neill WC
Semin Dial 2023 Jan;36(1):24-28. Epub 2022 Apr 5 doi: 10.1111/sdi.13068. PMID: 35384078
Joki N, Tokumoto M, Takahashi N, Nishimura M
Contrib Nephrol 2018;196:5-12. Epub 2018 Jul 24 doi: 10.1159/000485690. PMID: 30041198
Wan S, Roberts MA, Mount P
Cochrane Database Syst Rev 2016 Aug 9;2016(8):CD010741. doi: 10.1002/14651858.CD010741.pub2. PMID: 27502170Free PMC Article
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
Banner W Jr, Tong TG
Pediatr Clin North Am 1986 Apr;33(2):393-409. doi: 10.1016/s0031-3955(16)35010-6. PMID: 2870463

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
Bushinsky DA
Am J Kidney Dis 2019 Jun;73(6):858-865. Epub 2018 Dec 3 doi: 10.1053/j.ajkd.2018.09.004. PMID: 30518477
Kraut JA, Madias NE
Am J Kidney Dis 2016 Feb;67(2):307-17. Epub 2015 Oct 23 doi: 10.1053/j.ajkd.2015.08.028. PMID: 26477665
Hung AM, Hakim RM
Am J Kidney Dis 2015 Jul;66(1):125-32. Epub 2015 Mar 28 doi: 10.1053/j.ajkd.2015.02.322. PMID: 25828570
Chang TI, Oh HJ, Kang EW, Yoo TH, Shin SK, Kang SW, Choi KH, Han DS, Han SH
PLoS One 2013;8(12):e82912. Epub 2013 Dec 12 doi: 10.1371/journal.pone.0082912. PMID: 24349396Free 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
Adrogué HJ, Madias NE
Am J Kidney Dis 2020 Dec;76(6):861-867. Epub 2020 Sep 10 doi: 10.1053/j.ajkd.2020.07.019. PMID: 32920151
Joki N, Tokumoto M, Takahashi N, Nishimura M
Contrib Nephrol 2018;196:5-12. Epub 2018 Jul 24 doi: 10.1159/000485690. PMID: 30041198
Kraut JA, Madias NE
Am J Kidney Dis 2016 Feb;67(2):307-17. Epub 2015 Oct 23 doi: 10.1053/j.ajkd.2015.08.028. PMID: 26477665
Louden JD, Roberts RR, Goodship TH
Kidney Int Suppl 1999 Dec;73:S85-8. doi: 10.1046/j.1523-1755.1999.07319.x. PMID: 10633471

Recent systematic reviews

Wan S, Roberts MA, Mount P
Cochrane Database Syst Rev 2016 Aug 9;2016(8):CD010741. doi: 10.1002/14651858.CD010741.pub2. PMID: 27502170Free PMC Article

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