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Familial pseudohyperkalemia(PSHK2)

MedGen UID:
324588
Concept ID:
C1836705
Disease or Syndrome
Synonyms: CRYOHYDROCYTOSIS, MILD; Pseudohyperkalemia Chiswick; PSEUDOHYPERKALEMIA EAST LONDON; Pseudohyperkalemia Falkirk; PSEUDOHYPERKALEMIA LILLE; Pseudohyperkalemia, familial, 2, due to red cell leak
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): ABCB6 (2q35)
 
Monarch Initiative: MONDO:0012204
OMIM®: 609153
Orphanet: ORPHA90044

Definition

'Familial pseudohyperkalemia' (PSHK) is a term that was coined to describe conditions in which a patient presents with pseudohyperkalemia as a result of a temperature-based abnormality in the transport of potassium (K) and sodium (Na) across the red cell membrane, in association with essentially normal hematology. PSHK can be considered to be the clinically benign, nonhemolytic cousin of hereditary stomatocytic leaky-cell, congenital hemolytic anemias (see 194380) (summary by Gore et al., 2002). For a discussion of clinical and genetic heterogeneity of the hereditary stomatocytoses, see 194380. [from OMIM]

Clinical features

From HPO
Hand tremor
MedGen UID:
68689
Concept ID:
C0239842
Finding
An unintentional, oscillating to-and-fro muscle movement affecting the hand.
Periodic paralysis
MedGen UID:
488958
Concept ID:
C1279412
Disease or Syndrome
Episodes of muscle weakness.
Muscle spasm
MedGen UID:
52431
Concept ID:
C0037763
Sign or Symptom
Sudden and involuntary contractions of one or more muscles.
Generalized muscle weakness
MedGen UID:
155433
Concept ID:
C0746674
Sign or Symptom
Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.
Hyperkalemia
MedGen UID:
5691
Concept ID:
C0020461
Finding
An abnormally increased potassium concentration in the blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial pseudohyperkalemia

Recent clinical studies

Etiology

Meli A, McAndrew M, Frary A, Rehnstrom K, Stevens-Hernandez CJ, Flatt JF, Griffiths A, Stefanucci L, Astle W, Anand R, New HV, Bruce LJ, Cardigan R
Transfusion 2021 Aug;61(8):2439-2449. Epub 2021 May 7 doi: 10.1111/trf.16440. PMID: 33960432
Andolfo I, Russo R, Manna F, De Rosa G, Gambale A, Zouwail S, Detta N, Pardo CL, Alper SL, Brugnara C, Sharma AK, De Franceschi L, Iolascon A
Haematologica 2016 Aug;101(8):909-17. Epub 2016 May 5 doi: 10.3324/haematol.2016.142372. PMID: 27151991Free PMC Article
Iolascon A, De Falco L, Borgese F, Esposito MR, Avvisati RA, Izzo P, Piscopo C, Guizouarn H, Biondani A, Pantaleo A, De Franceschi L
Haematologica 2009 Aug;94(8):1049-59. doi: 10.3324/haematol.2008.002873. PMID: 19644137Free PMC Article
Grootenboer S, Schischmanoff PO, Laurendeau I, Cynober T, Tchernia G, Dommergues JP, Dhermy D, Bost M, Varet B, Snyder M, Ballas SK, Ducot B, Babron MC, Stewart GW, Gasparini P, Iolascon A, Delaunay J
Blood 2000 Oct 1;96(7):2599-605. PMID: 11001917
Delaunay J, Stewart G, Iolascon A
Curr Opin Hematol 1999 Mar;6(2):110-4. doi: 10.1097/00062752-199903000-00009. PMID: 10088641

Diagnosis

Kuwano K, Shimizu S, Fujita Y, Akatsu S, Shibagaki Y, Yazawa M
CEN Case Rep 2023 Nov;12(4):397-401. Epub 2023 Mar 12 doi: 10.1007/s13730-023-00781-y. PMID: 36907981Free PMC Article
Andolfo I, Russo R, Gambale A, Iolascon A
Haematologica 2016 Nov;101(11):1284-1294. Epub 2016 Oct 18 doi: 10.3324/haematol.2016.142463. PMID: 27756835Free PMC Article
Andolfo I, Russo R, Manna F, De Rosa G, Gambale A, Zouwail S, Detta N, Pardo CL, Alper SL, Brugnara C, Sharma AK, De Franceschi L, Iolascon A
Haematologica 2016 Aug;101(8):909-17. Epub 2016 May 5 doi: 10.3324/haematol.2016.142372. PMID: 27151991Free PMC Article
Delaunay J
Semin Hematol 2004 Apr;41(2):165-72. doi: 10.1053/j.seminhematol.2004.02.005. PMID: 15071792
Delaunay J, Stewart G, Iolascon A
Curr Opin Hematol 1999 Mar;6(2):110-4. doi: 10.1097/00062752-199903000-00009. PMID: 10088641

Therapy

Andolfo I, Russo R, Manna F, De Rosa G, Gambale A, Zouwail S, Detta N, Pardo CL, Alper SL, Brugnara C, Sharma AK, De Franceschi L, Iolascon A
Haematologica 2016 Aug;101(8):909-17. Epub 2016 May 5 doi: 10.3324/haematol.2016.142372. PMID: 27151991Free PMC Article
Bawazir WM, Flatt JF, Wallis JP, Rendon A, Cardigan RA, New HV, Wiltshire M, Page L, Chapman CE, Stewart GW, Bruce LJ
Transfusion 2014 Dec;54(12):3043-50. Epub 2014 Jun 19 doi: 10.1111/trf.12757. PMID: 24947683

Prognosis

Andolfo I, Alper SL, Delaunay J, Auriemma C, Russo R, Asci R, Esposito MR, Sharma AK, Shmukler BE, Brugnara C, De Franceschi L, Iolascon A
Am J Hematol 2013 Jan;88(1):66-72. Epub 2012 Nov 24 doi: 10.1002/ajh.23357. PMID: 23180570

Clinical prediction guides

Bawazir WM, Flatt JF, Wallis JP, Rendon A, Cardigan RA, New HV, Wiltshire M, Page L, Chapman CE, Stewart GW, Bruce LJ
Transfusion 2014 Dec;54(12):3043-50. Epub 2014 Jun 19 doi: 10.1111/trf.12757. PMID: 24947683
Andolfo I, Alper SL, Delaunay J, Auriemma C, Russo R, Asci R, Esposito MR, Sharma AK, Shmukler BE, Brugnara C, De Franceschi L, Iolascon A
Am J Hematol 2013 Jan;88(1):66-72. Epub 2012 Nov 24 doi: 10.1002/ajh.23357. PMID: 23180570
Iolascon A, De Falco L, Borgese F, Esposito MR, Avvisati RA, Izzo P, Piscopo C, Guizouarn H, Biondani A, Pantaleo A, De Franceschi L
Haematologica 2009 Aug;94(8):1049-59. doi: 10.3324/haematol.2008.002873. PMID: 19644137Free PMC Article

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