Pseudohypoaldosteronism type 2: <scp><i>CUL3</i></scp> mutation confirmed 15 years following initial diagnosis

Li, Bobby; Soule, Steven; Wilkinson, Thomas J.; Florkowski, Chris

doi:10.1111/imj.15740

Internal Medicine Journal

2022

DOI: 10.1111/imj.15740

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Pseudohypoaldosteronism type 2: CUL3 mutation confirmed 15 years following initial diagnosis

Bobby Li

Steven Soule

Thomas J. Wilkinson

et al.

Abstract: Pseudohypoaldosteronism type 2: CUL3 mutation confirmed 15 years following initial diagnosis Continuous variables presented as means (standard deviation). Differences in categorical variables were tested using a Fisher's exact test, and differences in numerical variables were tested using analysis of variance. PHA2, pseudohypoaldosteronism type 2.

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2023

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Insights into the diverse mechanisms and effects of variant CUL3-induced familial hyperkalemic hypertension

Sharma,

Chatrathi

2023

Cell Commun Signal

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Familial hyperkalemic hypertension (FHHt), also known as Pseudohypoaldosteronism type II (PHAII) or Gordon syndrome is a rare Mendelian disease classically characterized by hyperkalemia, hyperchloremic metabolic acidosis, and high systolic blood pressure. The most severe form of the disease is caused by autosomal dominant variants in CUL3 (Cullin 3), a critical subunit of the multimeric CUL3-RING ubiquitin ligase complex. The recent identification of a novel FHHt disease variant of CUL3 revealed intricacies within the underlying disease mechanism. When combined with studies on canonical CUL3 variant-induced FHHt, these findings further support CUL3’s role in regulating renal electrolyte transport and maintaining systemic vascular tone. However, the pathophysiological effects of CUL3 variants are often accompanied by diverse systemic disturbances in addition to classical FHHt symptoms. Recent global proteomic analyses provide a rationale for these systemic disturbances, paving the way for future mechanistic studies to reveal how CUL3 variants dysregulate processes outside of the renovascular axis.

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Insights into the diverse mechanisms and effects of variant CUL3-induced familial hyperkalemic hypertension

Sharma,

Chatrathi

2023

Cell Commun Signal

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show abstract

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Pseudohypoaldosteronism type 2: CUL3 mutation confirmed 15 years following initial diagnosis

Cited by 1 publication

References 6 publications

Insights into the diverse mechanisms and effects of variant CUL3-induced familial hyperkalemic hypertension

Insights into the diverse mechanisms and effects of variant CUL3-induced familial hyperkalemic hypertension

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