Autosomal dominant polycystic kidney disease.
Autosomal dominant polycystic kidney disease is the most prevalent, potentially lethal, monogenic disorder. It is associated with large interfamilial and intrafamilial variability, which can be explained to a large extent by its genetic heterogeneity and modifier genes. An increased understanding of the disorder's underlying genetic, molecular, and cellular mechanisms and a better appreciation of its progression and systemic manifestations have laid out the foundation for the development of clinical trials and potentially effective treatments.
Torres
Vicente E
VE
Mayo Clinic College of Medicine, Rochester, MN, USA. Electronic address: torres.vicente@mayo.edu.
Harris
Peter C
PC
Mayo Clinic College of Medicine, Rochester, MN, USA.
Pirson
Yves
Y
Cliniques St Luc, Université Catholique de Louvain, Brussels, Belgium.
D000818:Animals; D002318:Cardiovascular Diseases / Q000209:etiology; D005260:Female; D005838:Genotype; D006801:Humans; D015994:Incidence; D007676:Kidney Failure, Chronic / Q000453:epidemiology / Q000628:therapy; D007684:Kidney Tubules / Q000033:anatomy & histology / Q000378:metabolism / Q000502:physiology; D008297:Male; D010146:Pain / Q000209:etiology; D016891:Polycystic Kidney, Autosomal Dominant / Q000150:complications / Q000235:genetics / Q000503:physiopathology; D017582:Renal Replacement Therapy