Genetics and the kidney

Question 1

How is genomics used in medicine

Answer 1

1. ) Attaining specific genetic diagnosis for a rare disease
2. ) New-born screening + carrier testing
3. ) Non invasive prenatal testing
4. ) Molecular oncology
5. ) Early detection of cancer
6. ) Pharmacogenomics
7. ) Identification of people with inherited high risk of cancer
8. ) Sequencing of pathogen genomes

Question 2

ADPDK

Answer 2

• causes kidneys to expand in size due to cysts
• cysts are fluid filled spaces
• an autosomal dominant disease

Question 3

Extrarenal manifestations of ADPKD

Answer 3

• Valve defects
• Cysts in other organs e.g. liver/pancreas
• Intracranial aneurysms

Question 4

What are the genes that cause this

Answer 4

Polycystin-1 and Polycystin-2

Question 5

How is ADKDP diagnosed

Answer 5

Ultrasound

Question 6

How does the mutation work

Answer 6

• mutation in pk1 and 2 affect calcium signalling in the cell (low calcium levels)
• this affects cAMP (high level)
• this drives the disease

Question 7

Treatment for ADPKD

Answer 7

• Vasopressin receptor-2 in Pkd2 mice