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Hyperkalemia

MedGen UID:
5691
Concept ID:
C0020461
Finding
Synonyms: Elevated serum potassium levels
SNOMED CT: Hyperkalemia (14140009); Potassium excess (14140009); Hyperkalemic syndrome (14140009); K overload (14140009); K excess (14140009); Hyperpotassemia (14140009); Raised serum potassium level (166689004); Potassium overload (238142003)
 
HPO: HP:0002153

Definition

Abnormally high potassium concentration in the blood, most often due to defective renal excretion. It is characterized clinically by electrocardiographic abnormalities (elevated T waves and depressed P waves, and eventually by atrial asystole). In severe cases, weakness and flaccid paralysis may occur. (Dorland, 27th ed) [from MeSH]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Hyperkalemia

Conditions with this feature

Malignant hyperthermia susceptibility
MedGen UID:
9867
Concept ID:
C0024591
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.
Kasabach-Merritt syndrome
MedGen UID:
65122
Concept ID:
C0221025
Disease or Syndrome
A cavernous angiomatosis associated with the destruction of platelets, resulting in thrombocytopenia.
Corticosterone 18-monooxygenase deficiency
MedGen UID:
82784
Concept ID:
C0268293
Disease or Syndrome
Pseudohypoaldosteronism type 1 autosomal dominant
MedGen UID:
260623
Concept ID:
C1449842
Disease or Syndrome
Autosomal dominant pseudohypoaldosteronism type I is characterized by salt wasting resulting from renal unresponsiveness to mineralocorticoids. Patients may present with neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels. These patients improve with age and usually become asymptomatic without treatment. Some adult patients with the disorder may have elevated aldosterone levels, but no history of clinical disease. This observation suggests that only those infants whose salt homeostasis is stressed by intercurrent illness and volume depletion develop clinically recognized PHA I (summary by Geller et al., 1998). Autosomal recessive pseudohypoaldosteronism type I (PHA1B; 264350), caused by mutation in any one of 3 genes encoding the epithelial sodium channel (ENaC), is a similar but more severe systemic disorder with persistence into adulthood.
Pseudohypoaldosteronism type 1 autosomal recessive
MedGen UID:
258573
Concept ID:
C1449843
Disease or Syndrome
Autosomal recessive pseudohypoaldosteronism type I is characterized by renal salt wasting and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially threatening in the neonatal period. Laboratory evaluation shows hyponatremia, hyperkalemia, and increased plasma renin activity with high serum aldosterone concentrations. Respiratory tract infections are common in affected children and may be mistaken for cystic fibrosis (CF; 219700). Aggressive salt replacement and control of hyperkalemia results in survival, and the disorder appears to become less severe with age (review by Scheinman et al., 1999). A milder, autosomal dominant form of type I pseudohypoaldosteronism (PHA1A; 177735) is caused by mutations in the mineralocorticoid receptor gene (MCR, NR3C2; 600983). Gitelman syndrome (263800), another example of primary renal tubular salt wasting, is due to mutation in the thiazide-sensitive sodium-chloride cotransporter (SLC12A3; 600968). Hanukoglu and Hanukoglu (2016) provided a detailed review of the ENaC gene family, including structure, function, tissue distribution, and associated inherited diseases.
Pseudohypoaldosteronism, type 2
MedGen UID:
259599
Concept ID:
C1449844
Disease or Syndrome
A hereditary renal tubular defect characterized by hypertension and hyperkalemic metabolic acidosis in the presence of suppressed plasma renin levels and relatively low aldosterone levels.
Malignant hyperthermia susceptibility type 2
MedGen UID:
371986
Concept ID:
C1835161
Finding
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.
King Denborough syndrome
MedGen UID:
327082
Concept ID:
C1840365
Disease or Syndrome
A rare genetic non-dystrophic myopathy with characteristics of the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and myopathic facies (with or without creatine kinase elevations), skeletal abnormalities (short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use.
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.
Hyperchlorhidrosis, isolated
MedGen UID:
333560
Concept ID:
C1840437
Finding
Isolated hyperchlorhidrosis is an autosomal recessive condition in which excessive salt wasting in sweat can result in severe infantile hyponatremic dehydration and hyperkalemia (summary by Muhammad et al., 2011).
Myoglobinuria, acute recurrent, autosomal recessive
MedGen UID:
340308
Concept ID:
C1849386
Disease or Syndrome
Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis associated with muscle pain and weakness and followed by excretion of myoglobin in the urine. Renal failure may occasionally occur. Onset is usually in early childhood under the age of 5 years. Unlike the exercise-induced rhabdomyolyses such as McArdle syndrome (232600), carnitine palmitoyltransferase deficiency (see 255110), and the Creteil variety of phosphoglycerate kinase deficiency (311800), the attacks in recurrent myoglobinuria no relation to exercise, but are triggered by intercurrent illnesses, commonly upper respiratory tract infections. (Ramesh and Gardner-Medwin, 1992). See 160010 for discussion of a possible autosomal dominant form of myglobinuria. Severe rhabdomyolysis is a major clinical feature of anesthetic-induced malignant hyperthermia (145600), an autosomal dominant disorder.
Infantile nephronophthisis
MedGen UID:
355574
Concept ID:
C1865872
Disease or Syndrome
The nephronophthisis (NPH) phenotype is characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before age 30 years. Three age-based clinical subtypes are recongnized: infantile, juvenile, and adolescent/adult. Infantile NPH can present in utero with oligohydramnios sequence (limb contractures, pulmonary hypoplasia and facial dysmorphisms) or postnatally with renal manifestations that progress to ESRD before age 3 years. Juvenile NPH, the most prevalent subtype, typically presents with polydipsia and polyuria, growth retardation, chronic iron-resistant anemia, or other findings related to chronic kidney disease (CKD). Hypertension is typically absent due to salt wasting. ESRD develops at a median age of 13 years. Ultrasound findings are increased echogenicity, reduced corticomedullary differentiation, and renal cysts (in 50% of affected individuals). Histologic findings include tubulointerstitial fibrosis, thickened and disrupted tubular basement membrane, sporadic corticomedullary cysts, and normal or reduced kidney size. Adolescent/ adult NPH is clinically similar to juvenile NPH, but ESRD develops at a median age of 19 years. Within a subtype inter- and intrafamilial variability in rate of progression to ESRD is considerable. Approximately 80%-90% of individuals with the NPH phenotype have no extrarenal features (i.e., they have isolated NPH); ~10%-20% have extrarenal manifestations that constitute a recognizable syndrome (e.g., Joubert syndrome, Bardet-Biedl syndrome, Jeune syndrome and related skeletal disorders, Meckel-Gruber syndrome, Senior-Løken syndrome, Leber congenital amaurosis, COACH syndrome, and oculomotor apraxia, Cogan type).
Addison disease
MedGen UID:
357032
Concept ID:
C1868690
Disease or Syndrome
Autoimmune Addison disease affects the function of the adrenal glands, which are small hormone-producing glands located on top of each kidney. It is classified as an autoimmune disorder because it results from a malfunctioning immune system that attacks the adrenal glands. As a result, the production of several hormones is disrupted, which affects many body systems.The signs and symptoms of autoimmune Addison disease can begin at any time, although they most commonly begin between ages 30 and 50. Common features of this condition include extreme tiredness (fatigue), nausea, decreased appetite, and weight loss. In addition, many affected individuals have low blood pressure (hypotension), which can lead to dizziness when standing up quickly; muscle cramps; and a craving for salty foods. A characteristic feature of autoimmune Addison disease is abnormally dark areas of skin (hyperpigmentation), especially in regions that experience a lot of friction, such as the armpits, elbows, knuckles, and palm creases. The lips and the inside lining of the mouth can also be unusually dark. Because of an imbalance of hormones involved in development of sexual characteristics, women with this condition may lose their underarm and pubic hair.Other signs and symptoms of autoimmune Addison disease include low levels of sugar (hypoglycemia) and sodium (hyponatremia) and high levels of potassium (hyperkalemia) in the blood. Affected individuals may also have a shortage of red blood cells (anemia) and an increase in the number of white blood cells (lymphocytosis), particularly those known as eosinophils (eosinophilia).Autoimmune Addison disease can lead to a life-threatening adrenal crisis, characterized by vomiting, abdominal pain, back or leg cramps, and severe hypotension leading to shock. The adrenal crisis is often triggered by a stressor, such as surgery, trauma, or infection.Individuals with autoimmune Addison disease or their family members can have another autoimmune disorder, most commonly autoimmune thyroid disease or type 1 diabetes.
Malignant hyperpyrexia susceptibility type 3
MedGen UID:
418956
Concept ID:
C2930982
Pathologic Function
Corticosterone methyloxidase type 2 deficiency
MedGen UID:
483046
Concept ID:
C3463917
Disease or Syndrome
CMO type II deficiency is an autosomal recessive disorder caused by a defect in the final biochemical step of aldosterone biosynthesis, the 18-hydroxylation of 18-hydroxycorticosterone (18-OHB) to aldosterone. This enzymatic defect results in decreased aldosterone and salt-wasting associated with an increased serum ratio of 18-OHB to aldosterone. In CMO II deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18-OHB. These patients have a low ratio of corticosterone to 18-OHB (Portrat-Doyen et al., 1998). The CYP11B2 gene product also catalyzes an earlier step in aldosterone biosynthesis: the 18-hydroxylation of corticosterone to 18-OHB. A defect in that enzymatic step results in CMO type I deficiency (204300), an allelic disorder with an overlapping phenotype but distinct biochemical features. In CMO I deficiency, aldosterone is undetectable, whereas its immediate precursor, 18-OHB, is low or normal (Portrat-Doyen et al., 1998).
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.
Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency
MedGen UID:
766501
Concept ID:
C3553587
Disease or Syndrome
Familial glucocorticoid deficiency is a rare autosomal recessive disorder characterized by an inability of the adrenal cortex to produce cortisol in response to stimulation by adrenocorticotropic hormone (ACTH). Affected individuals typically present within the first few months of life with symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, hypoglycemia, convulsions, and shock. The disease is life-threatening if untreated (summary by Meimaridou et al., 2012). For a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (202200).
Mirage syndrome
MedGen UID:
924576
Concept ID:
C4284088
Disease or Syndrome
MIRAGE syndrome is a form of syndromic adrenal hypoplasia, characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. The condition is often fatal within the first decade of life, usually as a result of invasive infection (Narumi et al., 2016).

Recent clinical studies

Etiology

Peacock WF, Rafique Z, Clark CL, Singer AJ, Turner S, Miller J, Char D, Lagina A, Smith LM, Blomkalns AL, Caterino JM, Kosiborod M; REVEAL-ED Study Investigators.
J Emerg Med 2018 Dec;55(6):741-750. Epub 2018 Nov 1 doi: 10.1016/j.jemermed.2018.09.007. PMID: 30391144
Driver BE, Klein LR, Chittineni C, Cales EK, Scott N
J Emerg Med 2018 Jul;55(1):15-22.e3. Epub 2018 Apr 13 doi: 10.1016/j.jemermed.2018.02.012. PMID: 29661658
Lakkis JI, Weir MR
Curr Cardiol Rep 2018 Mar 1;20(2):12. doi: 10.1007/s11886-018-0954-2. PMID: 29492706
Tanaka K, Mori H, Sakamoto R, Matsumoto S, Mitsubuchi H, Nakamura K, Iwai M
BMC Pediatr 2018 Feb 13;18(1):55. doi: 10.1186/s12887-018-1048-4. PMID: 29433462Free PMC Article
Navarrete N
Burns 2018 Jun;44(4):941-946. Epub 2018 Feb 1 doi: 10.1016/j.burns.2017.12.003. PMID: 29395406

Diagnosis

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
Tanaka K, Mori H, Sakamoto R, Matsumoto S, Mitsubuchi H, Nakamura K, Iwai M
BMC Pediatr 2018 Feb 13;18(1):55. doi: 10.1186/s12887-018-1048-4. PMID: 29433462Free PMC Article
Tamargo J, Caballero R, Delpón E
Cardiovasc Drugs Ther 2018 Feb;32(1):99-119. doi: 10.1007/s10557-017-6767-5. PMID: 29372448
Das S, Dey JK, Sen S, Mukherjee R
J Pharm Pract 2018 Feb;31(1):6-17. Epub 2017 Feb 21 doi: 10.1177/0897190017692921. PMID: 28402156
Montford JR, Linas S
J Am Soc Nephrol 2017 Nov;28(11):3155-3165. Epub 2017 Aug 4 doi: 10.1681/ASN.2016121344. PMID: 28778861Free PMC Article

Therapy

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
Driver BE, Klein LR, Chittineni C, Cales EK, Scott N
J Emerg Med 2018 Jul;55(1):15-22.e3. Epub 2018 Apr 13 doi: 10.1016/j.jemermed.2018.02.012. PMID: 29661658
Lakkis JI, Weir MR
Curr Cardiol Rep 2018 Mar 1;20(2):12. doi: 10.1007/s11886-018-0954-2. PMID: 29492706
Tanaka K, Mori H, Sakamoto R, Matsumoto S, Mitsubuchi H, Nakamura K, Iwai M
BMC Pediatr 2018 Feb 13;18(1):55. doi: 10.1186/s12887-018-1048-4. PMID: 29433462Free PMC Article
Das S, Dey JK, Sen S, Mukherjee R
J Pharm Pract 2018 Feb;31(1):6-17. Epub 2017 Feb 21 doi: 10.1177/0897190017692921. PMID: 28402156

Prognosis

Wang J, Lv MM, Zach O, Wang LY, Zhou MY, Song GR, Zhang X, Lin HL
Ther Apher Dial 2018 Dec;22(6):609-616. Epub 2018 Aug 14 doi: 10.1111/1744-9987.12723. PMID: 30109784
Driver BE, Klein LR, Chittineni C, Cales EK, Scott N
J Emerg Med 2018 Jul;55(1):15-22.e3. Epub 2018 Apr 13 doi: 10.1016/j.jemermed.2018.02.012. PMID: 29661658
Montford JR, Linas S
J Am Soc Nephrol 2017 Nov;28(11):3155-3165. Epub 2017 Aug 4 doi: 10.1681/ASN.2016121344. PMID: 28778861Free PMC Article
Nilsson E, Gasparini A, Ärnlöv J, Xu H, Henriksson KM, Coresh J, Grams ME, Carrero JJ
Int J Cardiol 2017 Oct 15;245:277-284. Epub 2017 Jul 15 doi: 10.1016/j.ijcard.2017.07.035. PMID: 28735756
Bandak G, Sang Y, Gasparini A, Chang AR, Ballew SH, Evans M, Arnlov J, Lund LH, Inker LA, Coresh J, Carrero JJ, Grams ME
J Am Heart Assoc 2017 Jul 19;6(7) doi: 10.1161/JAHA.116.005428. PMID: 28724651Free PMC Article

Clinical prediction guides

Peacock WF, Rafique Z, Clark CL, Singer AJ, Turner S, Miller J, Char D, Lagina A, Smith LM, Blomkalns AL, Caterino JM, Kosiborod M; REVEAL-ED Study Investigators.
J Emerg Med 2018 Dec;55(6):741-750. Epub 2018 Nov 1 doi: 10.1016/j.jemermed.2018.09.007. PMID: 30391144
Driver BE, Klein LR, Chittineni C, Cales EK, Scott N
J Emerg Med 2018 Jul;55(1):15-22.e3. Epub 2018 Apr 13 doi: 10.1016/j.jemermed.2018.02.012. PMID: 29661658
Navarrete N
Burns 2018 Jun;44(4):941-946. Epub 2018 Feb 1 doi: 10.1016/j.burns.2017.12.003. PMID: 29395406
Nilsson E, Gasparini A, Ärnlöv J, Xu H, Henriksson KM, Coresh J, Grams ME, Carrero JJ
Int J Cardiol 2017 Oct 15;245:277-284. Epub 2017 Jul 15 doi: 10.1016/j.ijcard.2017.07.035. PMID: 28735756
Bandak G, Sang Y, Gasparini A, Chang AR, Ballew SH, Evans M, Arnlov J, Lund LH, Inker LA, Coresh J, Carrero JJ, Grams ME
J Am Heart Assoc 2017 Jul 19;6(7) doi: 10.1161/JAHA.116.005428. PMID: 28724651Free PMC Article

Recent systematic reviews

Hoppe LK, Muhlack DC, Koenig W, Carr PR, Brenner H, Schöttker B
Cardiovasc Drugs Ther 2018 Apr;32(2):197-212. doi: 10.1007/s10557-018-6783-0. PMID: 29679302
Colombo MG, Kirchberger I, Amann U, Dinser L, Meisinger C
Eur J Prev Cardiol 2018 Apr;25(6):576-595. Epub 2018 Feb 23 doi: 10.1177/2047487318759694. PMID: 29473462
Das S, Dey JK, Sen S, Mukherjee R
J Pharm Pract 2018 Feb;31(1):6-17. Epub 2017 Feb 21 doi: 10.1177/0897190017692921. PMID: 28402156
Meaney CJ, Beccari MV, Yang Y, Zhao J
Pharmacotherapy 2017 Apr;37(4):401-411. Epub 2017 Mar 10 doi: 10.1002/phar.1906. PMID: 28122118Free PMC Article
Sanson G, Russo S, Iudicello A, Schiraldi F
J Emerg Med 2015 May;48(5):555-61.e3. Epub 2015 Mar 9 doi: 10.1016/j.jemermed.2014.12.048. PMID: 25766426

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