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

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.