Education

What are kidney diseases? Some kidney diseases can be due to genetic causes. Depending on the type of kidney disease and specific risks factors, the likelihood of genetic causes in a kidney patient can range from 10-70%.

FSGS is a term used to describe the appearance seen on a kidney biopsy. It suggests areas of “scarring” within some of the glomeruli.

Alport syndrome is caused by changes in genes that make different types of collagen (COL4A3, COL4A4, COL4A5). These collagens are involved in the functions of many organs, namely kidneys, inner ears and eyes. It is one of the commonest genetic cause of glomerular disease among adults and children in Asian countries.

Coenzyme Q10 deficiency is one of the few rare genetic kidney disease that has a specific treatment. Genes involved in this condition include PDSS1, PDSS2, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ8B and COQ9. Two abnormal gene copies need to be present to cause disease.

What is genetic testing? Genes are made up of DNA. They contain instructions for our body functions. Genetic testing is an evaluation of your genes and it can identify DNA changes that may cause kidney diseases.