What Are the Causes of Polycystic Kidney Disease

The cause of Polycystic Kidney Disease (PKD) is gene deletion. Usually, Adult Polycystic Kidney Disease (PKD) is caused by gene deletion of the 16th chromosome, or the gene deletion of the 4th chromosome occasionally. This disease is a dominant inheritance with 100% penetrance. Therefore, if single parent has gene deletion, their children may inherit this disease at a risk of 50%.
Infantile Polycystic Kidney Disease (PKD) belongs to autosomal recessive inheritance, and children suffer from this disease only on the condition that both parents get gene deletion. The incidence is 25%.

There are some proofs that this disease has an association with inheritance. Buck once reported in a family with 8 brothers and sisters, among of whom 6 persons suffered from Polycystic Kidney Disease (PKD) and their father and uncle died of Uremia. Also there are 5 children get Kidney Disease in their next generation; Brasck said that there was a family that has Polycystic Kidney Disease (PKD) in four generations successively; Reason once reported that both twin children got this disease; Crawford once reported, in a family with 40 members, 17 persons are detected to have Polycystic Kidney Disease (PKD).

70%～90% of this disease attacks in bilateral kidneys. Among 62 cases reported by Lejars, only 3 cases are unilateral condition. Oickinson said the proposition of unilateral attack and bilateral attack is 1:26 and kidney volume of PKD patients is 2-3 times larger than that of normal kidney. A report once presented a case that bilateral kidneys weight of PKD patients reached 14.436kg. Schacht once said a cystic kidney weighed 7248g. PKD external shape presents irregular cystic nodule, and the section has numerous cystic cellular with different sizes.

Infantile Polycystic Kidney Disease also called Potter Type-I PKD. The size of cystic cavity is like a needle tip. There are fewer renal tissues among cysts. When cysts enlarge, renal parenchyma shrinks due to cystic pressure, which results in Hypoplasia of renal cortex and module. Cystic cavity contains liquid which can be yellowish-brown grume, purulent or bloodlike etc. Cyst and renal pelvis do not connect with each other.

Adult Polycystic Kidney Disease (ADPKD), also known as Porter Type-III, has abundant renal tissues among cysts which can connect with renal pelvis. Kasper once reported that Porter Type-II Polycystic Kidney Disease usually attacks on left kidney and usually has no symptoms, with obstruction and interlock in renal pelvis and ureters occasionally. Whereas the stenosis of renal pelvis and ureters occurs in the other two types due to the constant pressure of cyst, but no obstruction happens. Cysts wall consists of cubic epithelial cells which have the function of secretion. There are numerous small arteries under cysts wall, and Hematuria can be caused by the rupture of these arteries under increasing pressure.


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