AI Article Synopsis

  • Autosomal dominant polycystic kidney disease (ADPKD) is a common hereditary condition that can lead to serious kidney issues, with hypertension being a significant and treatable risk factor.
  • Understanding the role of the renin-angiotensin-aldosterone system in causing hypertension in ADPKD is crucial for developing effective treatment strategies.
  • Recent clinical trials, like the HALT-PKD trials, aim to clarify how targeting this system can lower blood pressure and potentially slow kidney disease progression.

Article Abstract

Autosomal dominant polycystic kidney disease is the most frequent life-threatening hereditary disease. Prognostic factors for progressive renal impairment have been identified such as gender, race, age, proteinuria, hematuria, hypertension. Hypertension is the only risk factor for renal dysfunction in autosomal dominant polycystic kidney disease, which is presently treatable. Better understanding of the pathophysiology of hypertension will help in defining appropriate interventions. The renin-angiotensin-aldosterone-system is the pivotal factor in the pathogenesis of hypertension in autosomal dominant polycystic kidney disease. Basic research and clinical studies in autosomal dominant polycystic kidney disease implicated activation of the renin-angiotensin-aldosterone-system. Therapy of hypertension in autosomal dominant polycystic kidney disease with angiotensin-converting enzyme inhibitors or angiotensin receptor blocker has the potential to prevent cardiovascular complications and slow the progression of renal disease. The results of two large multicenter double-blind placebo controlled randomized clinical trials (the HALT-PKD trials) possibly will elucidate the beneficial effects of the renin-angiotensin-aldosterone-system inhibition in autosomal dominant polycystic kidney disease.

Download full-text PDF

Source
http://dx.doi.org/10.2174/1573402111309010003DOI Listing

Publication Analysis

Top Keywords

autosomal dominant
28
dominant polycystic
28
polycystic kidney
28
kidney disease
28
disease
9
hypertension autosomal
8
autosomal
7
dominant
7
polycystic
7
kidney
7

Similar Publications

Upper and lower eyelid contour and positional changes after deep skin grafts in ablepharon macrostomia syndrome.

Orbit

January 2025

Department of Ophthalmology, Otorhinolaryngology and Head and Neck Surgery, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil.

Ablepharon macrostomia syndrome is a rare congenital disorder caused by autosomal-dominant mutations. This condition is characterized by redundant skin, low-set ears, macrostomia, ambiguous genitalia, and underdevelopment of the both upper and lower eyelids. The shortening of the anterior lamella, septum and levator aponeurosis lead to a severe corneal exposure within the first hours of life.

View Article and Find Full Text PDF

Background: Andersen-Tawil syndrome (ATS) is a rare autosomal dominant disorder caused by variants in the gene. It is associated with periodic paralysis, dysmorphic features and cardiac arrhythmias. The syndrome exhibits incomplete penetrance, leading to a broad spectrum of clinical manifestations, making diagnosis challenging.

View Article and Find Full Text PDF

Transthyretin-Related Familial Amyloidosis Polyneuropathy with Spinal Cord Damage: A Case Report.

Int Med Case Rep J

January 2025

Department of Neurology, Luoyang Central Hospital Affiliated to Zhengzhou University, Luoyang Cerebrovascular Disease (Stroke) Clinical Medical Research Center, Regional Medical Center for Neurological Diseases of Henan Province, Luoyang, People's Republic of China.

Introduction: Transthyretin protein-related familial amyloidosis polyneuropathy (TTR-FAP) is an autosomal dominant genetic disease caused by mutations in the TTR gene. The disease is characterized primarily by peripheral and autonomic nerve damage. Disease progression is associated with frequent involvement of the heart, lungs, kidneys, eyes, and other organs.

View Article and Find Full Text PDF

Introduction: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disease and screening to detect pulmonary arteriovenous malformations (PAVMs) is important to prevent complications. In adults, transthoracic contrast echocardiogram (TTCE) is used to screen PAVMs. In children, a conservative screening method seems to be sufficient to rule out major PAVMs and prevent them from PAVM-related complications.

View Article and Find Full Text PDF

Background: Chromosomal inversions are underappreciated causes of rare diseases given their detection, resolution, and clinical interpretation remain challenging. Heterozygous mutations in the MEIS2 gene cause an autosomal dominant syndrome characterized by intellectual disability, cleft palate, congenital heart defect, and facial dysmorphism at variable severity and penetrance.

Case Presentation: Herein, we report a Chinese girl with intellectual disability, developmental delay, and congenital heart defect, in whom G-banded karyotype analysis identified a de novo paracentric inversion 46,XX, inv(15)(q15q26.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!