According to researches, Polycystic Kidney Disease (PKD) has become the most
common life-threatening genetic disease, affecting an estimated 12.5 million
people worldwide.
Then what is PKD? And why there are so many people have this disease, and why
there is no effective therapy to help those patients?
PKD is a type of cystic genetic disorder of the kidneys. There are two types
of PKD: Autosomal Dominant Polycystic Kidney Disease (ADPKD) and the less-common
Autosomal Recessive Polycystic Kidney Disease (ARPKD).This kind of disease
occurs in humans and some other animals. PKD is characterized by the presence of
multiple cysts in both kidneys. The cysts are numerous and are fluid-filled,
resulting in massive enlargement of the kidneys. This disease can also damage
the liver, pancreas and, in some rare cases, the heart and brain. The two major
forms of polycystic kidney disease are distinguished by their patterns of
inheritance.
In half of the people with PKD, there is no family history of the disease and
they belong to ARPKD. In these cases, the gene coding for the disease occurs out
of a spontaneous genetic mutation without either parent being a carrier of the
gene. This kind of PKD attack after the birth of babies and usually those babies
won't live long. And this type of PKD is rather rare. While ADPKD is a
late-onset disorder characterized by progressive cyst development and
bilaterally enlarged kidneys with multiple cysts. ADPKD occurs in 1:400–1:1,000
individuals worldwide and accounts for 4% of end-stage renal disease. Over 90%
of cases are inherited as an autosomal dominant trait, with the remainder likely
representing spontaneous mutations. Cyst formation begins in utero from any
point along the nephron, although fewer than 5% of nephrons are thought to be
involved. As the cysts accumulate fluid with the increase of age, they enlarge,
separate entirely from the nephron, compress the neighboring renal parenchyma,
and progressively compromise renal function. And with the continuous enlargement
of cysts, they may even affect other organs, such as liver, spleen and so on. So
it is a type of very dangerous disease.
