Essay On Polycystic Kidney Disease

1. Polycystic kidney disease: Polycystic kidney diseases (PKD) are a group of developmental renal disorders that are characterized by progressive fluid accumulation in dilated renal tubules to form cysts, generating kidney enlargement, numerous large cysts compromise the function of the remaining normal tubules and eventually lead to renal failure as well as various external manifestations. It is associated with several genetic and non-genetic disorders, but the most common causes of polycystic kidney disease are genetic in origin, where there are several genetic diseases can be considered as polycystic kidney disease (Table1.1). Whereas non-genetic disorders employ multi cystic dysplasia, simple cysts, medullary sponge kidneys, acquired cysts (associated with uremia), wilms tumor and renal carcinoma (Fick, G. M. and Gabow, P. A. 1994)1.1. Modern development in genetic has enhanced the understanding and classification of these diseases, which subsequently has made genetic guidance more accurate. The genetic classification into an autosomal dominant and an autosomal recessive form substituted previous classification, which has based on: age at clinical presentation, infantile and adult type PKD. (Nauta, 2000)7. …show more content…
Table 1.1 (Genetic diseases causing polycystic kidney disease) (Harris, 2001) 1
Disorder Pattern of inheritance Approximate frequency
Autosomal dominant polycystic kidney disease (ADPKD) Dominant 1 in 1000
Autosomal recessive polycystic kidney disease (ARPKD) Recessive 1 in 40 000
Familial juvenile nephronophthisis (NPH) Recessive Rare
Medullary cystic disease (MCD) Dominant Very rare
Tuberous sclerosis (TSC) Dominant 1 in 10 000
Von Hippel–Lindau (VHL) disease Dominant 1 in 40