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[Familial hyperkalemic hypertension - a case report with patients in three generations]

Mikael Oscarson1, Lisa Juntti-Berggren2

  • 1överläkare, med dr, ME endokrinolog, Centrum för medfödda metabola sjukdomar, Karolinska -universitets-sjukhuset Solna.

Lakartidningen
|August 6, 2025
PubMed

Insights

Genetic testing identified a KLHL3 gene variant causing familial hyperkalemic hypertension in four patients. Hydrochlorothiazide treatment normalized potassium and improved blood pressure, highlighting the value of genetic insights for personalized medicine.

Area of Science:

  • Genetics
  • Nephrology
  • Internal Medicine

Background:

  • Advancements in sequencing technologies facilitate the identification of monogenic diseases.
  • Precision medicine offers tailored therapies for various conditions.
  • Hyperkalemia of unclear origin can present diagnostic challenges.

Purpose of the Study:

  • To present a case series of four patients across three generations diagnosed with hyperkalemia.
  • To investigate the genetic basis of familial hyperkalemic hypertension in this cohort.
  • To evaluate the efficacy of hydrochlorothiazide treatment for this condition.

Main Methods:

  • Detailed family history collection.
  • Genetic testing to identify pathogenic variants.
  • Clinical assessment and monitoring of potassium levels and blood pressure.

Main Results:

  • A pathogenic variant in the KLHL3 gene was identified, confirming familial hyperkalemic hypertension.
  • Hydrochlorothiazide treatment normalized serum potassium levels in all affected patients.
  • Significant improvement in blood pressure was observed, particularly in a patient with long-standing resistant hypertension.

Conclusions:

  • Genetic testing combined with family history is crucial for diagnosing rare genetic disorders like familial hyperkalemic hypertension.
  • Targeted therapy, such as hydrochlorothiazide, can effectively manage hyperkalemia and hypertension in KLHL3-related disorders.
  • This case highlights the success of precision medicine in treating genetically defined conditions.

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