KEY POINTS Testing for genetic defects that cause PKD Treatment is available

PKD Treatment

Autosomal dominant polycystic disease (ADPKD) is the most common monogenic disease in humans and is among the leading causes of kidney failure.PKD1 and PKD2 followed by a second somatic hit that annuls or reduces the function of the remaining normal allele lead to loss of tube diameter control, cyst formation.The understanding of the pathogenesis of ADPKD has advanced significantly since the discovery of the 2 causative genes, PKD1 and PKD2. Dominantly inherited gene mutations followed by somatic second-hit mutations inactivating the normal copy of the respective gene result in renal tubular cyst formation that deforms the kidney and eventually impairs its function.

Localisation of this complex in the primary cilium has linked this sensory organelle to the regulation of tube size. Here we review the recent advances made in elucidating pathogenesis, diagnosis and management of this disease and the experimental therapies targeting the implicated signalling pathways.

KEY POINTS Testing for genetic defects that cause PKD Treatment is available. The specific mutation involved (PKD1 or PKD2) affects the age of onset and therefore the rate of disease progression as well as the likelihood of cardiovascular complications. Other factors include somatic mutations of the normal paired chromosome. Clinical manifestations include renal and cyst enlargement, impaired urine concentration capacity, hematuria, nephrolithiasis, proteinuria, hypertension, polycystic liver disease, abdominal wall hernia and intracranial aneurysms. The diagnosis of PKD Treatment usually relies on renal imaging. Ongoing research has engendered crucial insight into the disease’s underlying genetic, cellular and pathogenetic mechanisms and made possible the design and implementation of clinical trials testing promising treatments.


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