Liddle Syndrome

Rossi, Ermanno; Rossi, Giovanni Maria

doi:10.1016/b978-0-12-801238-3.65187-5

Cited by 7 publications

(2 citation statements)

References 68 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…LS, also known as pseudohyperaldosteronism, is a rare autosomal dominant inherited disorder clinically manifested by an early onset of hypertension, metabolic alkalosis, hypokalaemia, low renin levels, and suppressed aldosterone production [ 31 , 32 ]. Genetic studies showed that this syndrome is caused by mutations in the terminal ends of the epithelial sodium channel (ENaC) [ 33 ]. ENaC is a membrane-bound ion channel primarily present in the apical portion of the aldosterone-sensitive epithelial cells such as the distal nephron, lung, and collecting duct.…”

Section: Genetics Of Hypertensionmentioning

confidence: 99%

Summary of Known Genetic and Epigenetic Modification Contributed to Hypertension

Pratamawati

Alwi

Asmarinah

2023

International Journal of Hypertension

View full text Add to dashboard Cite

Hypertension is a multifactorial disease due to a complex interaction among genetic, epigenetic, and environmental factors. Characterized by raised blood pressure (BP), it is responsible for more than 7 million deaths per annum by acting as a leading preventable risk factor for cardiovascular disease. Reports suggest that genetic factors are estimated to be involved in approximately 30 to 50% of BP variation, and epigenetic marks are known to contribute to the initiation of the disease by influencing gene expression. Consequently, elucidating the genetic and epigenetic mediators associated with hypertension is essential for better discernment of its pathophysiology. By deciphering the unprecedented molecular hypertension basis, it could help to unravel an individual’s inclination towards hypertension which eventually could result in an arrangement of potential strategies for prevention and therapy. In the present review, we discuss known genetic and epigenetic drivers that contributed to the hypertension development and summarize the novel variants that have currently been identified. The effect of these molecular alterations on endothelial function was also presented.

show abstract

Section: Genetics Of Hypertensionmentioning

confidence: 99%

Summary of Known Genetic and Epigenetic Modification Contributed to Hypertension

Pratamawati

Alwi

Asmarinah

2023

International Journal of Hypertension

View full text Add to dashboard Cite

show abstract

“…In many cases, amiloride or triamterene alone are sufficient to normalize blood pressure and plasma potassium levels. However, some LS patients may require conventional antihypertensive medications, including calcium-channel blockers, to achieve optimal blood pressure control [57]. Importantly, amiloride is a safe option for use during pregnancy and effectively corrects blood pressure, potassium levels, and renin levels [58].…”

Section: Current Pharmacological Interventions For Liddle Syndromementioning

confidence: 99%

Hereditary causes of hypertension due to increased sodium transport

Zhang

2023

Current Opinion in Pediatrics

View full text Add to dashboard Cite

Purpose of review Hypertension, commonly known as high blood pressure, is a widespread health condition affecting a large number of individuals across the globe. Although lifestyle choices and environmental factors are known to have a significant impact on its development, there is growing recognition of the influence of genetic factors in the pathogenesis of hypertension. This review specifically focuses on the hereditary causes of hypertension that are associated with increased sodium transport through the thiazide-sensitive NaCl cotransporter (NCC) or amiloride-sensitive epithelial sodium channel (ENaC), crucial mechanisms involved in regulating blood pressure in the kidneys. By examining genetic mutations and signaling molecules linked to the dysregulation of sodium transport, this review aims to deepen our understanding of the hereditary causes of hypertension and shed light on potential therapeutic targets. Recent findings Liddle syndrome (LS) is a genetic disorder that typically manifests early in life and is characterized by hypertension, hypokalemic metabolic alkalosis, hyporeninemia, and suppressed aldosterone secretion. This condition is primarily caused by gain-of-function mutations in ENaC. In contrast, Pseudohypoaldosteronism type II (PHAII) is marked by hyperkalemia and hypertension, alongside other clinical features such as hyperchloremia, metabolic acidosis, and suppressed plasma renin levels. PHAII results from overactivations of NCC, brought about by gain-of-function mutations in its upstream signaling molecules, including WNK1 (with no lysine (K) 1), WNK4, Kelch-like 3 (KLHL3), and cullin3 (CUL3). Summary NCC and ENaC are integral components, and their malfunctions lead to disorders like LS and PHAII, hereditary causes of hypertension. Current treatments for LS involve ENaC blockers (e.g., triamterene and amiloride) in conjunction with low-sodium diets, effectively normalizing blood pressure and potassium levels. In PHAII, thiazide diuretics, which inhibit NCC, are the mainstay treatment, albeit with some limitations and potential side effects. Ongoing research in developing alternative treatments, including small molecules targeting key regulators, holds promise for more effective and tailored hypertension solutions.

show abstract

Tubulopathies and Alterations of the RAAS

Hureaux

Vargas‐Poussou²

2022

Endocrinology

View full text Add to dashboard Cite

Liddle Syndrome

Cited by 7 publications

References 68 publications

Summary of Known Genetic and Epigenetic Modification Contributed to Hypertension

Summary of Known Genetic and Epigenetic Modification Contributed to Hypertension

Hereditary causes of hypertension due to increased sodium transport

Tubulopathies and Alterations of the RAAS

Contact Info

Product

Resources

About