ArticleKidney international reports2021
The variety of genetic defects explains the phenotypic heterogeneity of Familial Hyperkalemic Hypertension.
Article in Kidney international reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 23 citations in OpenAlex.
- Monogenic Kidney Disorders as Hidden Drivers of Electrolyte Imbalance and Hypertension.Electrolyte & blood pressure : E & BP · 2026Review
- Inherited salt retention is associated with increased IL-17 responses and autoimmunity.JCI insight · 2026Article
- Multidimensional Mechanisms of Hypertension and Advances in Diagnosis and Integrated TCM-Based Treatment: A Review.International journal of general medicine · 2026Review
- Atypical endocrine manifestations in Gordon syndrome caused by CUL3 mutation: a case report.Frontiers in medicine · 2026Article
- Familial Hyperkalemic Hypertension.Comprehensive Physiology · 2024Review
- Distal convoluted tubule-specific disruption of the COP9 signalosome but not its regulatory target cullin 3 causes tubular injury.American journal of physiology. Renal physiology · 2024Article
- Dysregulation of the WNK4-SPAK/OSR1 pathway has a minor effect on baseline NKCC2 phosphorylation.American journal of physiology. Renal physiology · 2024Article
- Insights into the diverse mechanisms and effects of variant CUL3-induced familial hyperkalemic hypertension.Cell communication and signaling : CCS · 2023Review
- Article
- Cullin 3 and Blood Pressure Regulation: Insights From Familial Hyperkalemic Hypertension.Hypertension (Dallas, Tex. : 1979) · 2023Review
- Cullin 3 mutant causing familial hyperkalemic hypertension lacks normal activity in the kidney.American journal of physiology. Renal physiology · 2022Article
- Kelch-like protein 3 in human disease and therapy.Molecular biology reports · 2022Review
- Roles of Cullin-RING Ubiquitin Ligases in Cardiovascular Diseases.Biomolecules · 2022Review
- Successful Kidney Transplantation in a Patient with Genetic Hypertension due to a Pathogenic Kelch-Like 3 Mutation: A Case Report.Case reports in nephrology and dialysisArticle
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionFamilial hyperkalemic hypertension is a rare inherited form of arterial hypertension. Four genes are responsible for this disease, the variants of these genes cause disruption in the regulation of ion transport in the distal renal tubule. Whether the genotype explains the large phenotypic heterogeneity has not been fully explored.
methodsWe retrospectively analyzed clinical and genetic data of 153 cases (84 probands, 69 relatives) with familial hyperkalemic hypertension.
resultsPathogenic variants (25 novel variants) were identified as follows:
conclusionsThis study confirms the phenotypic variability ranging from the severe and early forms associated with
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