Human kidneys serve important physiological functions in the body. There is an increasing evidence suggesting that the majority of renal diseases have an underlying genetic component. At least 40 genes have been shown to be involved in kidney development and many more genes are expressed within the kidney and regulate renal physiology. It is observed that genetic and congenital disorders are more common in Arab countries than in industrialized countries. Saudi Arabia is the largest Arab country and estimation of patients with end-stage kidney failure is 136 for each million yearly. Preliminary observations indicate that children in Saudi Arabia probably have a higher incidence of polycystic kidney disease, familial juvenile nephronophthisis, congenital urological anomalies, and familial nephrotic syndrome. Molecular diagnosis would help enormously in prevention and introduce early management which could ensure a better outcome. This is a review article of molecular studies conducted in the Kingdom of Saudi Arabia from 1990 till present time to elucidate disease-causing genes of inherited kidney disease.
Key words: Inherited kidney disease, mutations, molecular genetics, consanguinity, Saudi Arabia
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