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Article

Hypercalciuria in familial hyperkalemia and hypertension with KLHL3 mutations.

Nephron - 1 Jan 2015

Mayan Haim, Carmon Vered, Oleinikov Kira, London Shira, Halevy Raphael, Holtzman Eliezer J, Tenenbaum-Rakover Yardena, Farfel Zvi, Hanukoglu Aaron

Abstract excerpt

BACKGROUND: Familial hyperkalemia and hypertension (FHHt) is a rare genetic disorder manifested by hyperkalemia and early hypertension. Hypercalciuria is another accompanying feature. Mutations in WNK4 and WNK1 were found initially, and recently additional mutations were found in two genes, KLHL3 and CUL3, which are components of the Ubiquitin system. It was not reported whether these latter mutations are...

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Source

Identifiers

PMID: 25925082
DOI: 10.1159/000381563

Genes

KLHL3
WNK4
CUL3
TTN
WNK1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Hypercalciuria in familial hyperkalemia and hypertension with KLHL3 mutations.PMID 25925082Read ↗

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Hypercalciuria in familial hyperkalemia and hypertension accompanies hyperkalemia and precedes hypertension: description of a large family with the Q565E WNK4 mutation.Semantic proximity Read ↗

Familial Hyperkalemia and Hypertension (FHHt) and KLHL3: Description of a Family with a New Recessive Mutation (S553L) Compared to a Family with a Dominant Mutation, Q309R, with Analysis of Urinary Sodium Chloride Cotransporter.Semantic proximity Read ↗

KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron.Semantic proximity Read ↗

Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome).Semantic proximity Read ↗

Complications and treatment of hypercalciuria in patients affected by Familial Hyperkalemic Hypertension (FHHt)Semantic proximity Read ↗

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