Development of an early detection program for individuals with a family history of Autosomal Dominant Polycystic Kidney Disease

• Valencia Herrera, Alex Ramón ^[1] ; Sailema López, Liliana Katherine ^[1] ; Zúñiga Cárdenas, Génesis Alexandra ^[1] ; Monsalve Guamán, Aldemar Alejandro ^[1]
  1. [1] Universidad Regional Autónoma de Los Andes

     Universidad Regional Autónoma de Los Andes

     Ambato, Ecuador

     
• Localización: Salud, Ciencia y Tecnología - Serie de Conferencias, ISSN-e 2953-4860, Nº. 2, 2023 (Ejemplar dedicado a: Salud, Ciencia y Tecnología - Serie de Conferencias)
• Idioma: inglés
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• Resumen

  • Autosomal dominant polycystic kidney disease is an inherited disorder characterized by the development of clusters of fluid-filled sacs primarily in the kidneys, causing enlargement of the organs and possible impairment of their normal functions. This study aims to develop an early detection program for individuals with a family history of Autosomal Dominant Polycystic Kidney Disease based on the underlying pathophysiology and the various diagnostic approaches of Autosomal Dominant Polycystic Kidney Disease to facilitate efficient management and treatment of the disease. condition. The findings clarify the complex nature of this clinical scenario and highlight the significant obstacles that medical professionals encounter in establishing a conclusive diagnosis, thus shedding light on this healthcare dilemma within the scientific community. The pathophysiology of the disease has been determined to be closely related to genetic mutations in the PKD1 and PKD2 genes, which ultimately leads to structural and functional deterioration of the kidneys; in particular, the use of ultrasound images, which incorporate established criteria in the diagnostic process.