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Acidosis

MedGen UID:
1296
Concept ID:
C0001122
Pathologic Function
Synonyms: acidemia
SNOMED CT: Acidosis (51387008)
 
HPO: HP:0001941

Definition

Abnormal acid accumulation or depletion of base. [from HPO]

Conditions with this feature

Malignant hyperthermia susceptibility type 4
MedGen UID:
324944
Concept ID:
C1838102
Disease or Syndrome
Malignant hyperthermia susceptibility (MHS) is a pharmacogenetic disorder of skeletal muscle calcium regulation associated with uncontrolled skeletal muscle hypermetabolism. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). The triggering substances release calcium stores from the sarcoplasmic reticulum and may promote entry of calcium from the myoplasm, causing contracture of skeletal muscles, glycogenolysis, and increased cellular metabolism, resulting in production of heat and excess lactate. Affected individuals experience: acidosis, hypercapnia, tachycardia, hyperthermia, muscle rigidity, compartment syndrome, rhabdomyolysis with subsequent increase in serum creatine kinase (CK) concentration, hyperkalemia with a risk for cardiac arrhythmia or even arrest, and myoglobinuria with a risk for renal failure. In nearly all cases, the first manifestations of MH (tachycardia and tachypnea) occur in the operating room; however, MH may also occur in the early postoperative period. There is mounting evidence that some affected individuals will also develop MH with exercise and/or on exposure to hot environments. Without proper and prompt treatment with dantrolene sodium, mortality is extremely high.
Disorder of isoleucine metabolism
MedGen UID:
376443
Concept ID:
C1848793
Disease or Syndrome
Absent corpus callosum cataract immunodeficiency
MedGen UID:
340962
Concept ID:
C1855772
Disease or Syndrome
Vici syndrome is a rare congenital multisystem disorder characterized by agenesis of the corpus callosum, cataracts, pigmentary defects, progressive cardiomyopathy, and variable immunodeficiency. Affected individuals also have profound psychomotor retardation and hypotonia due to a myopathy (summary by Finocchi et al., 2012).
Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis
MedGen UID:
347955
Concept ID:
C1859818
Disease or Syndrome

Recent clinical studies

Etiology

Smith SA, Livingston MH, Merritt NH
J Pediatr Surg 2016 May;51(5):848-52. Epub 2016 Feb 13 doi: 10.1016/j.jpedsurg.2016.02.034. PMID: 26960738
Rei M, Ayres-de-Campos D, Bernardes J
Best Pract Res Clin Obstet Gynaecol 2016 Jan;30:79-86. Epub 2015 Jun 21 doi: 10.1016/j.bpobgyn.2015.04.011. PMID: 26148854
Yang J, Zhao JX, Wang Y, Chen G, Cheng WN, Luo X, Pei XT, Zhao L, Su Q, Zhou H
Artif Cells Nanomed Biotechnol 2016;44(1):48-55. Epub 2014 Apr 3 doi: 10.3109/21691401.2014.901335. PMID: 24697727
Ghadimi K, Gutsche JT, Setegne SL, Jackson KR, Augoustides JG, Ochroch EA, Bavaria JE, Cheung AT
J Cardiothorac Vasc Anesth 2015 Dec;29(6):1432-40. Epub 2015 Jul 29 doi: 10.1053/j.jvca.2015.07.025. PMID: 26706792
Lorioli L, Cicalese MP, Silvani P, Assanelli A, Salvo I, Mandelli A, Fumagalli F, Fiori R, Ciceri F, Aiuti A, Sessa M, Roncarolo MG, Lanzani C, Biffi A
Mol Genet Metab 2015 May;115(1):48-52. Epub 2015 Mar 6 doi: 10.1016/j.ymgme.2015.02.009. PMID: 25796965

Diagnosis

Mostert M, Bonavia A
Am J Case Rep 2016 Oct 18;17:755-758. PMID: 27752032Free PMC Article
Sakai N, Hirose Y, Sato N, Kondo D, Shimada Y, Hori Y
Intern Med 2016;55(10):1315-7. Epub 2016 May 15 doi: 10.2169/internalmedicine.55.5786. PMID: 27181539
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
Rei M, Ayres-de-Campos D, Bernardes J
Best Pract Res Clin Obstet Gynaecol 2016 Jan;30:79-86. Epub 2015 Jun 21 doi: 10.1016/j.bpobgyn.2015.04.011. PMID: 26148854
Witham MD, Band MM, Littleford RC, Avenell A, Soiza RL, McMurdo ME, Sumukadas D, Ogston SA, Lamb EJ, Hampson G, McNamee P; BiCARB Study Group.
Trials 2015 Aug 1;16:326. doi: 10.1186/s13063-015-0843-6. PMID: 26231610Free PMC Article

Therapy

Sakai N, Hirose Y, Sato N, Kondo D, Shimada Y, Hori Y
Intern Med 2016;55(10):1315-7. Epub 2016 May 15 doi: 10.2169/internalmedicine.55.5786. PMID: 27181539
Raphael KL
Am J Kidney Dis 2016 Apr;67(4):696-702. Epub 2016 Jan 6 doi: 10.1053/j.ajkd.2015.12.016. PMID: 26776539
Qureshi UA, Sami A, Altaf U, Ahmad K, Iqbal J, Wani NA, Mir Z, Ali I
Nutrition 2016 Feb;32(2):213-6. Epub 2015 Sep 2 doi: 10.1016/j.nut.2015.08.007. PMID: 26515900
Ghadimi K, Gutsche JT, Setegne SL, Jackson KR, Augoustides JG, Ochroch EA, Bavaria JE, Cheung AT
J Cardiothorac Vasc Anesth 2015 Dec;29(6):1432-40. Epub 2015 Jul 29 doi: 10.1053/j.jvca.2015.07.025. PMID: 26706792
Ori Y, Zingerman B, Bergman M, Bessler H, Salman H
Biomed Pharmacother 2015 Apr;71:98-101. Epub 2015 Feb 26 doi: 10.1016/j.biopha.2015.02.012. PMID: 25960222

Prognosis

Smith SA, Livingston MH, Merritt NH
J Pediatr Surg 2016 May;51(5):848-52. Epub 2016 Feb 13 doi: 10.1016/j.jpedsurg.2016.02.034. PMID: 26960738
Qureshi UA, Sami A, Altaf U, Ahmad K, Iqbal J, Wani NA, Mir Z, Ali I
Nutrition 2016 Feb;32(2):213-6. Epub 2015 Sep 2 doi: 10.1016/j.nut.2015.08.007. PMID: 26515900
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
Ghadimi K, Gutsche JT, Setegne SL, Jackson KR, Augoustides JG, Ochroch EA, Bavaria JE, Cheung AT
J Cardiothorac Vasc Anesth 2015 Dec;29(6):1432-40. Epub 2015 Jul 29 doi: 10.1053/j.jvca.2015.07.025. PMID: 26706792
Lorioli L, Cicalese MP, Silvani P, Assanelli A, Salvo I, Mandelli A, Fumagalli F, Fiori R, Ciceri F, Aiuti A, Sessa M, Roncarolo MG, Lanzani C, Biffi A
Mol Genet Metab 2015 May;115(1):48-52. Epub 2015 Mar 6 doi: 10.1016/j.ymgme.2015.02.009. PMID: 25796965

Clinical prediction guides

Raphael KL
Am J Kidney Dis 2016 Apr;67(4):696-702. Epub 2016 Jan 6 doi: 10.1053/j.ajkd.2015.12.016. PMID: 26776539
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
Rei M, Ayres-de-Campos D, Bernardes J
Best Pract Res Clin Obstet Gynaecol 2016 Jan;30:79-86. Epub 2015 Jun 21 doi: 10.1016/j.bpobgyn.2015.04.011. PMID: 26148854
Yang J, Zhao JX, Wang Y, Chen G, Cheng WN, Luo X, Pei XT, Zhao L, Su Q, Zhou H
Artif Cells Nanomed Biotechnol 2016;44(1):48-55. Epub 2014 Apr 3 doi: 10.3109/21691401.2014.901335. PMID: 24697727
Ghadimi K, Gutsche JT, Setegne SL, Jackson KR, Augoustides JG, Ochroch EA, Bavaria JE, Cheung AT
J Cardiothorac Vasc Anesth 2015 Dec;29(6):1432-40. Epub 2015 Jul 29 doi: 10.1053/j.jvca.2015.07.025. PMID: 26706792

Recent systematic reviews

Renda F, Mura P, Finco G, Ferrazin F, Pani L, Landoni G
Eur Rev Med Pharmacol Sci 2013 Feb;17 Suppl 1:45-9. PMID: 23436666
Thorsen K, Ringdal KG, Strand K, Søreide E, Hagemo J, Søreide K
Br J Surg 2011 Jul;98(7):894-907. Epub 2011 Apr 20 doi: 10.1002/bjs.7497. PMID: 21509749
Adams RC, Vachha B, Samuelson ML, Keefover-Hicks A, Snodgrass WT
J Urol 2010 Jan;183(1):302-5. doi: 10.1016/j.juro.2009.09.001. PMID: 19914645
Andrade OV, Ihara FO, Troster EJ
J Pediatr (Rio J) 2007 May;83(2 Suppl):S11-21. Epub 2007 May 15 doi: doi:10.2223/JPED.1616. PMID: 17508091
Roderick P, Willis NS, Blakeley S, Jones C, Tomson C
Cochrane Database Syst Rev 2007 Jan 24;(1):CD001890. doi: 10.1002/14651858.CD001890.pub3. PMID: 17253467

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