Polycystic liver disease is one of the most widespread genetic diseases in the world. But what does it consist of?
More than one person in 1,000 is affected, i.e. between 80,000 and 100,000 patients in France : Hepatorenal polycystosis is one of the most common genetic diseases. But what exactly is it? What organs does it affect and how do you live with it on a daily basis? Here are some answers.
Types and Symptoms of Polycystosis
Hepatorenal polycystosis can affect two organs: the kidneys, we then speak of polycystic kidney disease (PKR) and the liver polycystic liver disease (PKH). The first “manifests itself by the progressive appearance of cysts along the renal “tubule”, small bags filled with liquid, which while growing destroy the kidneys and lead to partial then terminal renal insufficiency” underlines the Association Polycystose France. It usually occurs around the age of 50 to 60. It is hereditary.
To understand PKR, let’s go back to the function of our two kidneys: they filter about 200 liters of blood every day, from which they remove waste (among other things). They also have a role in three types of hormones, they synthesize renin which helps regulate blood pressure, Calcitriol which is an active form of vitamin D and erytropoietin which has the particularity of stimulating the production of red blood cells.
The disease progressively prevents all these functions. Besides kidney dysfunction, symptoms of PKR include high blood pressure, chronic stomach and back painextensive urinary tract infections, kidney stones, blood in the urine.
In the case of PKH, when the liver is a victim of the development of cysts, the repercussions are digestive, but also pulmonary, because of the compression of adjacent organs, such as the stomach, duodenum, diaphragm, points out Science Direct. But the functions of the liver would not be altered by the presence of the cysts.
How to Diagnose and Treat Polycystic Hepatorenal Disease
To diagnose Polycystic Hepatorenum, the MSD Manual details the process: imaging tests as well as genetic analysis.
Regarding liver damage, only symptomatic versions are treated, informs Science Direct. Cysts can be treated by puncture or opened by fenestration. The surgery is performed by laparoscopy (small opening in the abdomen). But it can go as far as a partial resection.
For kidney damage, the diagnosis is made by a nephrologist. As the Haute Autorité de Santé points out, there is a drug to slow the progression of cysts, tolvaptan. That said, its effect is moderate, and it is known to cause liver damage. Cysts can also be drained and the kidney removed.
The MSD Manual states: “More than half of people with this condition develop chronic kidney disease with end-stage kidney disease (end-stage renal disease) at some point in their lives and require dialysis or a kidney transplant.”
Sources: MSD Manual, HAS, Science Direct, Association Polycystose France