Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak; Pshk2

Description

'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}.

Clinical Features

Phenotypes and symptoms related to Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak; Pshk2

  • Tremor
  • Paralysis
  • Muscle cramps
  • Generalized muscle weakness
  • Hyperkalemia
  • Hand tremor
  • Stomatocytosis
  • Periodic paralysis

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak; Pshk2 Is also known as pseudohyperkalemia east london, pseudohyperkalemia lille, pseudohyperkalemia chiswick, cryohydrocytosis, mild, pseudohyperkalemia falkirk, pseudohyperkalemia cardiff.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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