Abstract: FR-PO554
Familial Hyperkalaemic Hypertension Is Associated With Immunodeficiency
Session Information
- Fluid, Electrolyte, and Acid-Base Disorders: Clinical
November 04, 2022 | Location: Exhibit Hall, Orange County Convention Center‚ West Building
Abstract Time: 10:00 AM - 12:00 PM
Category: Fluid‚ Electrolyte‚ and Acid-Base Disorders
- 1002 Fluid‚ Electrolyte‚ and Acid-Base Disorders: Clinical
Authors
- Siew, Keith, University College London, London, London, United Kingdom
- Evans, Rhys David Russell, University College London, London, London, United Kingdom
- Walsh, Stephen B., University College London, London, London, United Kingdom
Background
Familial hyperkalaemic hypertension (FHHt) is also known as Gordon syndrome or pseudohypoaldosteronism type II. It is an autosomal dominant condition that leads to salt retention through over activation of the sodium chloride co-transporter (NCC) in the distal convoluted tubule causing salt-sensitive hypertension. Pathogenic mutations in WNK1, WNK4, CUL3 and KLHL3 cause FHHt. Our recent study on patients with salt-losing tubulopathies (SLTs e.g. Gitelman syndrome) found significantly altered immunity, predisposing patients to a variety of infections1. We studied whether FHHt (a salt retaining tubulopathy) also led to an altered immune phenotype.
Methods
12 patients with FHHt were studied. Information such as past medical history, medications, autoimmunity, atopy, allergy status, childhood infections, recurrent adult infections were collected amongst other data. This was compared to 24 healthy controls and 47 patients with salt losing tubulopathy.
Results
Patients with FHHt were found to have significantly more viral (p=0.0094) and fungal infections (p=0.04) compared to healthy controls. They also experienced more recurrent upper respiratory tract infections (p=0.04) and urinary tract infections (p=0.04). Compared to patients with salt losing nephropathy, FHHt patients suffered significantly more recurrent viral infections (p=0.0021) but less allergic disease (p=0.03).
Conclusion
Our data suggests altered immunity in patients with FHHt. Their phenotype and range of infections were different to both healthy controls and patients with salt losing nephropathy. Further work is required to replicate these differences in larger cohorts and to investigate underlying mechanisms that may explain changes in immunity and whether this can be corrected with treatment.
References:
1. Evans RDR et al. Nat Commun 2020; 11: 4368