Understand the etiology of ADPKD.
Interpret the physiopathology of ADPKD and explain its manifestations.
Assess renal and extrarenal findings.
To master the different imaging methods for ADPKD and the extrarenal manifestations.
Molecular Biology has aid in the study of diseases with genetic charcterization to understand their origin and have certainty in the treatment.
Molecular techniques are increasingly being used by health centers to determine heritage of renal cystic diseases.
The radiologist must understan that ADPKD is more than a renal disorder,
this disorder requires a multidisciplinary attention as it is a multisystemic disease.
renal and extrarenal manifestations,
imaging methods for diagnosis,
treatment and prognosis will be discussed.
Findings and procedure details
ADPKD is a monogenic disease.
The main systemic manifestation occurs in the kidney.
It can also affect the liver,
pancreas or blood vessels.
This disease is the most common hereditary kidney disease; affecting about 300 thousand to 600 thousand Americans and between 1:400-1000 live births in worldwide.
There is no predominance of sex.
The son of an affected father has a 50% chance of inheriting the gene mutation with full penetrance.
The mutation occurs spontaneously from 5 to 10%.
The mutation of PKD1 is more...
ADPKD is a genetic disorder,
the main affection is found in the kidney,
the cardiovascular findings are the most important extrarenal manifestations.
Patients with ADPKD have a higher risk to present unruptured IA compared to the rest of the population.
The radiologist must perform an intentional search for the extrarenal manifestations of these patients,
especially in those that put life at risk.
Paulette Mariette Dautt Medina,
Department of Imaging,
ABCMedical Center, Mexico City,
et al.Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.
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Autosomal dominant polycystic kidney disease.
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Polycystic kidney disease.
Annu Rev Med.
Autosomal dominant polycystic kidney disease: genetics,
mutations and microRNAs.
Biochim Biophys Acta.
Current management of autosomal dominant polycystic kidney disease.
World J Nephrol....