Polycystic Renal Disease: An Update

Polycystic Kidney Disease (PKD) is a common genetic condition, which is characterized by gradual appearance of multiple cysts in the kidneys; this causes the destruction of renal parenchyma leading to chronic renal disease. PKD has two patterns of inheritance: autosomal dominant and autosomal recess...

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Autor Principal: Guatibonza, Yenny P.; Pontificia Universidad Javeriana
Otros Autores: Rodríguez, Rafael Eduardo; Clínica del Occidente, Córdoba, Juan Pablo; Hospital Universitario de San Ignacio, Zarante, Ignacio; Pontificia Universidad Javeriana
Formato: info:eu-repo/semantics/article
Idioma: spa
Publicado: Pontificia Universidad Javeriana 2012
Materias:
Acceso en línea: http://revistas.javeriana.edu.co/index.php/vnimedica/article/view/16179
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Sumario: Polycystic Kidney Disease (PKD) is a common genetic condition, which is characterized by gradual appearance of multiple cysts in the kidneys; this causes the destruction of renal parenchyma leading to chronic renal disease. PKD has two patterns of inheritance: autosomal dominant and autosomal recessive. The autosomal dominant form is more common and less severe than the autosomal recessive. It is known that PKD is caused by mutation in several human loci. The autosomal dominant form can be caused by mutations in 2 different genes (PKD1 and PKD2). The autosomal recessive form has only one causal gene (PKHD1). There are numerous publications worldwide that seek to explain the pathophysiology of the disease; this reflects an international effort to understand the nature of the disease, to develop therapies to prevent the appearance of cysts or the progression of those already existent lesions. The objective of this review is to update the knowledge we have so far, about polycystic kidney disease therefore we decided to conduct a brief review of the clinical features of disease and the treatment available today.