ArticleJournal of nephrology2022
Genotype-phenotype correlation in Gordon's syndrome: report of two cases carrying novel heterozygous mutations.
Article in Journal of nephrology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 7 citations in OpenAlex.
- Pseudo-Hypoaldosteronism Type 2 due to New Variants of KLHL3 Gene Diagnosed in an Adult Woman With Very High Sensitivity to Hydrochlorothiazide.Clinical case reports · 2025Article
- A case report of Graves' disease combined with pseudohypoaldosteronism type IID in a child.Translational pediatrics · 2025Article
- Article
- Summary of Known Genetic and Epigenetic Modification Contributed to Hypertension.International journal of hypertension · 2023Review
- Aldosterone defects in infants and young children with hyperkalemia: A single center retrospective study.Frontiers in pediatrics · 2023Article
- Structural Pharmacology of Cation-Chloride Cotransporters.Membranes · 2022Review
- Kelch-like protein 3 in human disease and therapy.Molecular biology reports · 2022Review
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Authors and funding
6 authors at 1 institution in 1 country.
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Abstract
Gordon's syndrome, known also as Pseudohypoaldosteronism type II is a rare inherited dominant form of low-renin hypertension associated with hyperkalemia and metabolic acidosis. Four genes related to the regulation of the NaCl co-symporter NCC have been discovered associated to Gordon phenotypes: WINK 1 and WINK4, which, along with WNK2 and WNK3, encode a family of WNK-kinases, and KLHL3 and CUL3 encoding respectively, Kelch-like 3 protein and cullin. Heterozygous mutations in these genes constitutively activate NCC leading to abnormally increased salt reabsorption and salt-sensitive hypertension. Thiazide diuretic is the recognized treatment for this condition. We report and discuss phenotypic and genetic heterogeneity of two patients with Gordon's syndrome carrying novel heterozygous mutations in the WNK1 and KLHL3 genes. A very rare variant in the SCNN1G gene encoding the γ subunit of epithelial sodium channel ENaC was also identified in one patient.
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