Nephrology

Genetics behind Kidney Diseases

Some diseases inside the kidneys are due to the mutation in the single copy of gene. Humans have about 250000-30000 gene.  There might be mutation which affects the kidney and another one is due to hereditary traits which pass from one generation to another. Therefore if parents have kidney disease then there is chance that their children can also get kidney diseases at some point of time in their life. Whereas in the mutation case, single gene disorder in which single copy of gene gets mutated and will code for different protein. In polygenic disorder, multiple genes get mutated and code for wrong protein and cause disease. Single gene disorder is found 25% in children and 15% in adults. Monogenic (single gene disorder) has more genetic causality and high penetrance when compared with polygenic disorder. This low causality is due to weak correlation of genotype and phenotype. Dominant disease usually manifest in the adults e.g.: Autosomal Dominant polycystic Kidney disease. Whereas recessive disease usually appears prenatally in the childhood, in adolescence. Autosomal dominant polycystic kidney disease is the most common inherited disease and is due to single copy mutation of gene. Many people with autosomal dominant pkd live for many decades without any symptoms. For this cognition autosomal pkd is often referred as “adult polycystic kidney disease”. There are several other inheritable genetic diseases which affect the kidney.