[Hypokalemic periodic paralysis: a systematic review of published case reports]

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#acetazolamide #age-of-onset #calcium-channels-l-type #gene-frequency #humans

[Hypokalemic periodic paralysis: a systematic review of published case reports]

Latorre et al., 2020 | Rev Neurol | Systematic Review

Citation

Latorre R, Purroy F. [Hypokalemic periodic paralysis: a systematic review of published case reports]. Rev Neurol. 2020-Nov-01;71(9):317-325. doi:10.33588/rn.7109.2020377

Abstract

INTRODUCTION: Hypokalemic periodic paralysis is a neuromuscular disease characterized by a combination of flaccid paralysis episodes (or muscular weakness) that are related to low levels of potassium in blood. As a consequence of its low prevalence, there are still clinical and management aspects to characterize. PATIENTS AND METHODS: A systematic review of the clinical cases published in the last decade has been developed by analyzing demographic and genetic features, the episodes' characteristics, the received treatments, the response to them and also, the differences and evolution of patients depending on the most prevalent genetic alterations: CACNA1S and SCN4A. RESULTS: A total of 33 articles were included, allowing 40 individuals to be reviewed. The average age of onset of symptoms was 15.3 ± 9.7 years. The most frequent altered gene was CACNA1S in 20 (60.5%) cases. It was observed that subjects presenting an alteration of the gene responsible for the calcium channel, CACNA1S, presented lower serum potassium levels, own triggers and a higher proportion of subjects showing dyspnea during the crisis. Only 50% of the subjects respond to classical oral treatment with acetazolamide. Potassium-sparing diuretics and antiepileptics drugs emerge as an alternative. CONCLUSION: Hypokalemic periodic paralysis has an heterogeneous clinical expression with phenotypic differences linked to different genetic mutations. The common preventive treatment response is suboptimal. Prospective studies are needed to discern the best therapeutic option based on genetic load.

Key Findings

A total of 33 articles were included, allowing 40 individuals to be reviewed. The average age of onset of symptoms was 15.3 ± 9.7 years. The most frequent altered gene was CACNA1S in 20 (60.5%) cases. It was observed that subjects presenting an alteration of the gene responsible for the calcium channel, CACNA1S, presented lower serum potassium levels, own triggers and a higher proportion of subjects showing dyspnea during the crisis. Only 50% of the subjects respond to classical oral treatment w

Outcomes Measured

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Population

Field Value
Population See abstract
Sample Size 40
Age Range See abstract
Condition See abstract

MeSH Terms

  • Acetazolamide
  • Age of Onset
  • Calcium Channels, L-Type
  • Gene Frequency
  • Humans
  • Hypokalemic Periodic Paralysis
  • NAV1.4 Voltage-Gated Sodium Channel
  • Potassium

Evidence Classification

  • Level: Systematic Review
  • Publication Types: Journal Article, Systematic Review
  • Vertical: potassium

Provenance

Source extracted via PubMed E-utilities API on 2026-04-09