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Hyperchloremic metabolic acidosis

MedGen UID:
369924
Concept ID:
C1969073
Disease or Syndrome; Finding
Synonym: Non-gap acidosis
 
HPO: HP:0004918

Definition

A form of metabolic acidosis with increased serum chloride levels. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHyperchloremic metabolic acidosis

Conditions with this feature

Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
MedGen UID:
82777
Concept ID:
C0268151
Disease or Syndrome
The term "galactosemia" refers to disorders of galactose metabolism that include classic galactosemia, clinical variant galactosemia, and biochemical variant galactosemia (not covered in this chapter). This GeneReview focuses on: Classic galactosemia, which can result in life-threatening complications including feeding problems, failure to thrive, hepatocellular damage, bleeding, and E coli sepsis in untreated infants. If a lactose-restricted diet is provided during the first ten days of life, the neonatal signs usually quickly resolve and the complications of liver failure, sepsis, and neonatal death are prevented; however, despite adequate treatment from an early age, children with classic galactosemia remain at increased risk for developmental delays, speech problems (termed childhood apraxia of speech and dysarthria), and abnormalities of motor function. Almost all females with classic galactosemia manifest hypergonadatropic hypogonadism or premature ovarian insufficiency (POI). Clinical variant galactosemia, which can result in life-threatening complications including feeding problems, failure to thrive, hepatocellular damage including cirrhosis, and bleeding in untreated infants. This is exemplified by the disease that occurs in African Americans and native Africans in South Africa. Persons with clinical variant galactosemia may be missed with newborn screening as the hypergalactosemia is not as marked as in classic galactosemia and breath testing is normal. If a lactose-restricted diet is provided during the first ten days of life, the severe acute neonatal complications are usually prevented. African Americans with clinical variant galactosemia and adequate early treatment do not appear to be at risk for long-term complications, including POI.
Congenital malabsorptive diarrhea 4
MedGen UID:
372151
Concept ID:
C1835888
Disease or Syndrome
An exceedingly rare genetic gastroenterological disease characterized by severe malabsorption diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration and severe diarrhea unresponsive to various nutrients and formulas and require home parenteral nutrition. The syndrome is also associated with type 1 diabetes during childhood. This phenotype is caused by loss-of-function mutations in the NEUROG3 gene, coding for neurogenin 3, a protein implicated in endocrine enteric and pancreatic cell development.
Pseudohypoaldosteronism type 2B
MedGen UID:
374457
Concept ID:
C1840390
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.
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.
Pseudohypoaldosteronism type 2D
MedGen UID:
483335
Concept ID:
C3469605
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.
Pseudohypoaldosteronism type 2E
MedGen UID:
483336
Concept ID:
C3469606
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.
Fanconi renotubular syndrome 5
MedGen UID:
1711127
Concept ID:
C5394473
Disease or Syndrome
Fanconi renotubular syndrome-5 (FRTS5) is a mitochondrial disorder characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis. It occurs only in individuals of Acadian descent (Crocker et al., 1997 and Hartmannova et al., 2016). For a discussion of genetic heterogeneity of Fanconi renotubular syndrome, see FRTS1 (134600).
Renal tubular acidosis, distal, 4, with hemolytic anemia
MedGen UID:
1771439
Concept ID:
C5436235
Disease or Syndrome
Individuals with hereditary distal renal tubular acidosis (dRTA) typically present in infancy with failure to thrive, although later presentations can occur, especially in individuals with autosomal dominant SLC4A1-dRTA. Initial clinical manifestations can also include emesis, polyuria, polydipsia, constipation, diarrhea, decreased appetite, and episodes of dehydration. Electrolyte manifestations include hyperchloremic non-anion gap metabolic acidosis and hypokalemia. Renal complications of dRTA include nephrocalcinosis, nephrolithiasis, medullary cysts, and impaired renal function. Additional manifestations include bone demineralization (rickets, osteomalacia), growth deficiency, sensorineural hearing loss (in ATP6V0A4-, ATP6V1B1-, and FOXI1-dRTA), and hereditary hemolytic anemia (in some individuals with SLC4A1-dRTA).

Professional guidelines

PubMed

Hammi Y, Charfi H, Ferjani M, Sayari T, Mrad R, Gargah T
Tunis Med 2023 Aug-Sep;101(8-9):704-708. PMID: 38445406
Holden DN, Yung FH, Entezami P
Clin Neurol Neurosurg 2021 Feb;201:106435. Epub 2020 Dec 15 doi: 10.1016/j.clineuro.2020.106435. PMID: 33373834
Toledo I, Wainsztein R, Mannucci C, Ferraro M, Ferreira J, Balestracci A
Arch Argent Pediatr 2018 Jun 1;116(3):e365-e370. doi: 10.5546/aap.2018.eng.e365. PMID: 29756707

Recent clinical studies

Etiology

Self WH, Evans CS, Jenkins CA, Brown RM, Casey JD, Collins SP, Coston TD, Felbinger M, Flemmons LN, Hellervik SM, Lindsell CJ, Liu D, McCoin NS, Niswender KD, Slovis CM, Stollings JL, Wang L, Rice TW, Semler MW; Pragmatic Critical Care Research Group
JAMA Netw Open 2020 Nov 2;3(11):e2024596. doi: 10.1001/jamanetworkopen.2020.24596. PMID: 33196806Free PMC Article
Bagga A, Sinha A
Indian J Pediatr 2020 Sep;87(9):733-744. Epub 2020 Jun 26 doi: 10.1007/s12098-020-03318-8. PMID: 32591997
Finer G, Landau D
Adv Chronic Kidney Dis 2018 Jul;25(4):351-357. doi: 10.1053/j.ackd.2018.05.006. PMID: 30139461
Golembiewska E, Ciechanowski K
Acta Biochim Pol 2012;59(2):213-7. Epub 2012 Jun 11 PMID: 22693689
Lim S
Acta Med Indones 2007 Jul-Sep;39(3):145-50. PMID: 17936961

Diagnosis

Katopodis P, Pappas EM, Katopodis KP
Ann Hepatol 2022 Mar-Apr;27(2):100675. Epub 2022 Jan 21 doi: 10.1016/j.aohep.2022.100675. PMID: 35074477
Fenves AZ, Emmett M
Am J Kidney Dis 2021 Oct;78(4):590-600. Epub 2021 Aug 13 doi: 10.1053/j.ajkd.2021.02.341. PMID: 34400023
Self WH, Evans CS, Jenkins CA, Brown RM, Casey JD, Collins SP, Coston TD, Felbinger M, Flemmons LN, Hellervik SM, Lindsell CJ, Liu D, McCoin NS, Niswender KD, Slovis CM, Stollings JL, Wang L, Rice TW, Semler MW; Pragmatic Critical Care Research Group
JAMA Netw Open 2020 Nov 2;3(11):e2024596. doi: 10.1001/jamanetworkopen.2020.24596. PMID: 33196806Free PMC Article
Bagga A, Sinha A
Indian J Pediatr 2020 Sep;87(9):733-744. Epub 2020 Jun 26 doi: 10.1007/s12098-020-03318-8. PMID: 32591997
Lim S
Acta Med Indones 2007 Jul-Sep;39(3):145-50. PMID: 17936961

Therapy

Catahay JA, Polintan ET, Casimiro M, Notarte KI, Velasco JV, Ver AT, Pastrana A, Macaranas I, Patarroyo-Aponte G, Lo KB
Heart Lung 2022 Jul-Aug;54:74-79. Epub 2022 Mar 28 doi: 10.1016/j.hrtlng.2022.03.014. PMID: 35358905
Self WH, Evans CS, Jenkins CA, Brown RM, Casey JD, Collins SP, Coston TD, Felbinger M, Flemmons LN, Hellervik SM, Lindsell CJ, Liu D, McCoin NS, Niswender KD, Slovis CM, Stollings JL, Wang L, Rice TW, Semler MW; Pragmatic Critical Care Research Group
JAMA Netw Open 2020 Nov 2;3(11):e2024596. doi: 10.1001/jamanetworkopen.2020.24596. PMID: 33196806Free PMC Article
Semler MW, Kellum JA
Am J Respir Crit Care Med 2019 Apr 15;199(8):952-960. doi: 10.1164/rccm.201809-1677CI. PMID: 30407838Free PMC Article
Langer T, Santini A, Scotti E, Van Regenmortel N, Malbrain ML, Caironi P
Anaesthesiol Intensive Ther 2015;47 Spec No:s78-88. Epub 2015 Nov 20 doi: 10.5603/AIT.a2015.0079. PMID: 26588483
Lim S
Acta Med Indones 2007 Jul-Sep;39(3):145-50. PMID: 17936961

Prognosis

Oh TK, Jeon YT, Sohn H, Chung SH, Do SH
World Neurosurg 2019 May;125:e1226-e1240. Epub 2019 Feb 22 doi: 10.1016/j.wneu.2019.02.015. PMID: 30797920
Roth JD, Koch MO
Urol Clin North Am 2018 Feb;45(1):19-24. doi: 10.1016/j.ucl.2017.09.007. PMID: 29169447
Mohebbi N, Wagner CA
J Nephrol 2018 Aug;31(4):511-522. Epub 2017 Oct 9 doi: 10.1007/s40620-017-0447-1. PMID: 28994037
Ahya SN, José Soler M, Levitsky J, Batlle D
Semin Nephrol 2006 Nov;26(6):466-70. doi: 10.1016/j.semnephrol.2006.11.001. PMID: 17275584
Fichtner J
Urol Int 1999;63(1):40-5. doi: 10.1159/000030417. PMID: 10592489

Clinical prediction guides

Semler MW, Kellum JA
Am J Respir Crit Care Med 2019 Apr 15;199(8):952-960. doi: 10.1164/rccm.201809-1677CI. PMID: 30407838Free PMC Article
Roth JD, Koch MO
Urol Clin North Am 2018 Feb;45(1):19-24. doi: 10.1016/j.ucl.2017.09.007. PMID: 29169447
Langer T, Santini A, Scotti E, Van Regenmortel N, Malbrain ML, Caironi P
Anaesthesiol Intensive Ther 2015;47 Spec No:s78-88. Epub 2015 Nov 20 doi: 10.5603/AIT.a2015.0079. PMID: 26588483
Santi M, Lava SA, Camozzi P, Giannini O, Milani GP, Simonetti GD, Fossali EF, Bianchetti MG, Faré PB
Ital J Pediatr 2015 Jun 25;41:47. doi: 10.1186/s13052-015-0154-2. PMID: 26108552Free PMC Article
Liamis G, Filippatos TD, Elisaf MS
Postgrad Med 2015 May;127(4):405-12. Epub 2015 Mar 26 doi: 10.1080/00325481.2015.1029421. PMID: 25812486

Recent systematic reviews

Catahay JA, Polintan ET, Casimiro M, Notarte KI, Velasco JV, Ver AT, Pastrana A, Macaranas I, Patarroyo-Aponte G, Lo KB
Heart Lung 2022 Jul-Aug;54:74-79. Epub 2022 Mar 28 doi: 10.1016/j.hrtlng.2022.03.014. PMID: 35358905
Lehr AR, Rached-d'Astous S, Barrowman N, Tsampalieros A, Parker M, McIntyre L, Sampson M, Menon K
Pediatr Crit Care Med 2022 Mar 1;23(3):181-191. doi: 10.1097/PCC.0000000000002890. PMID: 34991134Free PMC Article

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