Familial hyperaldosteronism type III a novel case and review of literature

Fernández, Natividad Pons; Moreno, Francisca; Morata, Julia; Moriano, Ana; León, Sara; Mingo, Carmen de; Zúñiga, Ángel; Calvo, Fernando

doi:10.1007/s11154-018-9481-0

Cited by 15 publications

(6 citation statements)

References 43 publications

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“…Additional laboratory investigations include plasma aldosterone and renin levels alongside testing for aldosterone suppression levels with dexamethasone [21]. Treatment involves glucocorticoid replacement (i.e., dexamethasone or prednisolone) at the lowest dose to allow for disease remission and also prevent Cushing syndrome [22]. Mineralocorticoid antagonists (i.e., spironolactone or eplerenone) and epithelial sodium channel (ENaC) blockers can serve as adjuncts for better blood pressure control [23].…”

Section: Discussionmentioning

confidence: 99%

“…• Familial Hyperaldosteronism Type 3 (FH-3) FH-3 is very rare and occurs secondary to gain-of-function mutations in the KCNJ5 gene located on chromosome 11q24.3 [19,24]. KCNJ5 encodes for a potassium channel in the zona glomerulosa called GIRK4 which loses its selectivity for potassium with mutations in the gene [22]. This leads to sodium influx into the cells with resultant membrane depolarisation, intracellular calcium entry and aldosterone synthesis [15,25].…”

Section: Discussionmentioning

confidence: 99%

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Low renin forms of monogenic hypertension: review of the evidence

Okorafor,

Okorafor

2024

J CLIN MED KAZ

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Background: Monogenic hypertension syndromes result from a single genetic mutation and present with severe, refractory hypertension, distinct laboratory abnormalities, and a positive family history. These syndromes are often unrecognized or misdiagnosed as essential hypertension, thus preventing proper treatment. The rise of molecular genetics has brought these conditions to the limelight, and physicians must be kept abreast of the latest in this field. This paper aims to educate doctors to recognize and institute appropriate management early to prevent end-organ damage. Discussion: These syndromes all affect sodium transport in the distal nephron of the kidneys. However, they are divided based on the location of the primary disorder, i.e., the adrenal glands or the distal nephron and discussed in that manner. Tables provide an overview of the different syndromes and provide essential information in a snapshot. Conclusion: The widespread availability of genetic testing facilities will aid in the earlier diagnosis of these conditions to prevent morbidity.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Low renin forms of monogenic hypertension: review of the evidence

Okorafor,

Okorafor

2024

J CLIN MED KAZ

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“…This is another autosomal dominant rare form of monogenic hypertension accounting for approximately 0.3% of PA patients ( 142 , 143 ). The causative gene for FH-III is KCNJ5 which encodes the inwardly rectifying K + channel Kir3.4, also named GIRK4 ( 144 ).…”

Section: Methodsmentioning

confidence: 99%

A narrative review of Hyporeninemic hypertension—an indicator for monogenic forms of hypertension

Mashmoushi¹,

Wolf²

2022

Pediatr Med

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Background and Objective: While the role of the renin-angiotensin-aldosterone system (RAAS) in the development of hypertension is well known, the significance and contribution of low renin hypertension is often overlooked. RAAS stimulation results in more tubular absorption of sodium and water along the nephron, contributing to a higher circulating vascular volume. In addition, members of the RAAS system, such as angiotensin II, have direct effects on vascular vasoconstriction, the heart, aldosterone synthesis in the adrenal glands, the sympathetic nervous system, and the central nervous system. This has resulted in a line of antihypertensive therapeutics targeting RAAS with angiotensin converting enzyme (ACE) inhibitors, angiotensin receptor blockers (ARBs), and renin inhibitors, which prevent conversion of angiotensinogen to angiotensin. While general practitioners and nephrologists are well aware of the causes and the long-term consequences of elevated renin and aldosterone levels, the opposite situation with low renin and/or low aldosterone levels is frequently underappreciated. The objective of this review is to provide insight to the less common forms of hyporeninemic hypertension. Methods: We searched the PubMed online library for keywords related to hyporeninemic hypertension and focused on the pediatric population. For pathophysiology we focused on literature of the last 5 years. Key Content and Findings: The low renin and aldosterone levels may be indicators of inherited (especially when associated with hypokalemia), monogenic forms of hypertension stimulating excessive tubular sodium and water absorption which subsequently results in plasma volume expansion and hypertension. These forms of hypertension require frequently specific forms of therapy. This underlines the importance of the practitioner to be familiar with these rare diseases. Conclusions: In this review article, we outline the different forms of hypertension characterized by low renin/low aldosterone and low renin/high aldosterone levels, how to diagnose these forms of hypertension, and how to treat them.

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“…Compared with FH-I, patients with FH-II are also associated with aldosterone-producing adenoma (APA) or bilateral adrenal hyperplasia (BAH). According to previous diagnostic criteria, when two or more family members suffer from PA, FH-II can be diagnosed after excluding the possibility of other FH forms (22). With the discovery of the new pathogenic gene variant, genetic testing may be a standard method for diagnosing FH-II.…”

Section: Genetics Of Monogenic Hypertensionmentioning

confidence: 99%

Overview of Monogenic Forms of Hypertension Combined With Hypokalemia

Fan

Zhang

et al. 2021

Front. Pediatr.

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Hypertension is an important risk factor in many conditions and creates a heavy burden of disease and mortality globally. Polygenic hypertension is the most common form; however, it is increasingly recognized that monogenic hypertension is not rare, especially in patients with electrolyte disorders. Single genetic alterations are associated with plasma volume expansion and catecholamines/sympathetic excess with simultaneously increased potassium excretion in the urine and potassium intracellular shift. Early-onset refractory hypertension and profound hypokalemia are characteristics of monogenic hypertension. However, accumulated evidence shows the existence of phenotypic heterogeneity in monogenic hypertension meaning that, even for mild symptoms, clinicians cannot easily exclude the possibility of monogenic hypertension. Genetic, epigenetic and non-genetic factors are all possible mechanisms influencing phenotypic diversity. Genetic sequencing is a precise and efficient method that can broaden the mutant gene spectrum of the disease and is very helpful for understanding the pathophysiology of monogenic hypertension. Genetic sequencing, along with biochemical tests and imaging modalities, is essential for the early diagnosis and targeted management of monogenic hypertension to avoid long-term catastrophic complications.

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Familial hyperaldosteronism type III a novel case and review of literature

Cited by 15 publications

References 43 publications

Low renin forms of monogenic hypertension: review of the evidence

Low renin forms of monogenic hypertension: review of the evidence

A narrative review of Hyporeninemic hypertension—an indicator for monogenic forms of hypertension

Overview of Monogenic Forms of Hypertension Combined With Hypokalemia

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