Vascular complications in patients with Autosomal Dominant Polycystic Kidney Disease. A review of the literature and current clinical recommendations DOI Creative Commons
Agata Koska-Ścigała, Łukasz Zdrojewski, Magdalena Jankowska

et al.

European Journal of Translational and Clinical Medicine, Journal Year: 2020, Volume and Issue: 3(2), P. 64 - 71

Published: Dec. 3, 2020

Autosomal dominant polycystic kidney disease is the most common genetic cause of renal failure. Apart from involvement, patients are at risk extra-renal manifestations, including vascular lesions. The etiology changes diverse and depends, among other factors, on polycystin gene mutation, increased activity renin-angiotensin-aldosterone system occurrence hypertension. observed complications include cerebral artery aneurysms, cervico-encephalic arteries' dissection, aortic aneurysm dissection intracranial arterial dolichoectasia. This article discusses etiopathogenesis, symptomatology, principles prevention treatment aforementioned diseases accompanying disease.

Language: Английский

GANAB-Associated Severe Autosomal Dominant Polycystic Kidney Disease in an 18-Year-Old Female: A Case Report DOI Open Access

Gautam Agrawal,

Bhawna Agarwal,

Anjana Chandrasekhara Pillai

et al.

Cureus, Journal Year: 2025, Volume and Issue: unknown

Published: Feb. 23, 2025

Autosomal dominant polycystic kidney disease (ADPKD) is a hereditary disorder, characterized by the formation of multiple cysts in kidneys, leading to progressive enlargement and, eventually, renal failure. It most frequently associated with PKD1 or PKD2 mutations, although rare variants, such as GANAB gene, are also associated, but they present milder phenotype. ADPKD patients often manifestations, hypertension, abdominal pain, hematuria, urinary tract infections, along extrarenal liver cysts, heart valve disease, and cerebral aneurysms. usually diagnosed fourth fifth decade life. This case report discusses clinical presentation, diagnostic approach, management an 18-year-old female patient no known first-degree family history ADPKD, who presented hypertension bilateral on ultrasound. The diagnosis was confirmed imaging studies genetic testing. gene mutation found this typically mild disease; however, according Mayo Clinic Imaging Classification (MIC) for our falls under 1E, which predictive rapid progression end-stage (ESRD). highlights challenges treating young given limited available managing population. questions assumption that GANAB-associated progresses manner. Clinicians should prioritize vigilant monitoring multidisciplinary approach high-risk characteristics, regardless their findings.

Language: Английский

Citations

1
The Role of Endocannabinoids in Physiological Processes and Disease Pathology: A Comprehensive Review DOI Open Access

Paulina Simankowicz,

Joanna Stępniewska

Journal of Clinical Medicine, Journal Year: 2025, Volume and Issue: 14(8), P. 2851 - 2851

Published: April 21, 2025

The endocannabinoid system is a complex communication involved in maintaining homeostasis various physiological processes, including metabolism, immune response, pain modulation, and neuroprotection. Endocannabinoids, mainly anandamide 2-arachidonoylglycerol, are natural ligands of the cannabinoid receptors CB1 CB2, which widely distributed throughout central nervous peripheral tissues. Their biosynthesis, degradation, interaction with other signaling pathways play crucial roles both health disease. This article provides comprehensive overview pathological endocannabinoids, discusses their potential as therapeutic targets, highlights recent advances endocannabinoid-based treatments.

Language: Английский

Citations

0
Enfermedad Poliquística Renal, Diagnóstico Temprano En Niños Y Adolescentes DOI Creative Commons
Ana Judith Morocho Lancha, Andrés Santiago Bueno Castro

Salud ConCiencia, Journal Year: 2023, Volume and Issue: 2(2), P. e21 - e21

Published: Oct. 13, 2023

Introducción: la enfermedad poliquística renal se caracteriza por el desarrollo precoz de múltiples quistes renales que remueven y comprimen parénquima normal, lo provoca una disminución progresiva tasa filtración glomerular. Objetivo: describir su diagnóstico temprano en niños adolescentes. Desarrollo: los avances medicina han transformado detección prevención enfermedades hereditarias, como renal. El con pruebas genéticas alta sensibilidad (86%-100%) para identificar mutaciones genes PKD1 PKD2. La ecografía es clave niños, mientras resonancia magnética ofrece precisión del 98% casos específicos, respaldada inteligencia artificial tomografía computarizada logra un 94% precisión. Al ser patología influenciada factores genéticos, clínicos ambientales, PKD2 son cruciales, junto edad al diagnóstico, niveles creatinina, infecciones volumen temprana crucial, aunque plantea desafíos beneficios cuestionables, requiriendo criterios seguimiento óptimo. Conclusiones: Las diagnosticar defectos genéticos. EPR esencial pero debatida eficacia.

Citations

1
Vascular complications in patients with Autosomal Dominant Polycystic Kidney Disease. A review of the literature and current clinical recommendations DOI Creative Commons
Agata Koska-Ścigała, Łukasz Zdrojewski, Magdalena Jankowska

et al.

European Journal of Translational and Clinical Medicine, Journal Year: 2020, Volume and Issue: 3(2), P. 64 - 71

Published: Dec. 3, 2020

Autosomal dominant polycystic kidney disease is the most common genetic cause of renal failure. Apart from involvement, patients are at risk extra-renal manifestations, including vascular lesions. The etiology changes diverse and depends, among other factors, on polycystin gene mutation, increased activity renin-angiotensin-aldosterone system occurrence hypertension. observed complications include cerebral artery aneurysms, cervico-encephalic arteries' dissection, aortic aneurysm dissection intracranial arterial dolichoectasia. This article discusses etiopathogenesis, symptomatology, principles prevention treatment aforementioned diseases accompanying disease.

Language: Английский

Citations

1