Autosomal Dominant Polycystic Kidney Disease

• Autosomal dominant polycystic kidney disease is a genetic disorder
• Polycystic kidney disease (ADPKD) is the most common genetic cause of renal failure worldwide
• ADPKD is a multisystem and progressive disease involving cyst formation, kidney enlargement, and extrarenal organ involvement, such as in the liver, pancreas, or spleen
• ADPKD is typically diagnosed in adults over 30, as symptoms usually appear later in life
• Diagnosis includes considering symptoms and family medical history

Urine and Blood Tests

• A urine test checks for blood or protein
• A blood test estimates the rate at which the kidneys are filtering blood

Scans

• An ultrasound scan looks for cysts in the kidneys or other organs such as the liver
• A CT or MRI scan provides a more detailed view of the kidneys
• An MRI scan is recommended when there is a family history of brain aneurysms

Screening

• There are two methods to confirm the diagnosis of ADPKD
• One method is using an ultrasound, CT or MRI scan to identify kidney abnormalities
• The other is genetic blood testing to determine if a person has inherited one of the genetic mutations known to cause ADPKD in their family, especially in special circumstances

Affected Genes

• The affected genes in polycystic kidney disease are PKD1 and PKD2
• PKD1 accounts for approximately 78% of cases
• PKD2 accounts for around 15% of cases
• Both types of ADPKD have similar symptoms, but PKD1 tends to be more severe

Molecular Genetic Testing

• Identifying PKD1 and PKD2, along with characterizing their genomic structures, is essential for molecular diagnosis of ADPKD
• Affected genes are located in polycystic kidney disease

Genetic Diagnosis

• Multiplex PCR involves simultaneously detecting multiple targets in a single reaction through different primer pairs for each target

Nucleic Acid Isolation

• Includes methods such as organic extraction, spin column, and magnetic beads
• Involves estimation of DNA concentration and purity

Multiplex PCR Reaction

• Utilizes gene primers of ADPKD
• The reaction mixture contains 5 µl of DNA template, 1 µl of forward and reverse primers (10 mM), 12.5 µl of PCR Master Mix and 5.5 µl of nuclease-free distilled water for each gene

Thermal Cycling Programs

• Denaturation is performed for 4 minutes at 940°C
• 32 cycles of amplification at 940°C for 30 seconds, 680°C for 45 seconds, and 720°C for 45 seconds
• The final extension is performed for 10 minutes at 720°C
• Sequencing is then performed

Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder. Symptoms include cyst formation, kidney enlargement, and extrarenal organ involvement. Diagnosis includes urine and blood tests, ultrasounds, CT and MRI scans.