Polycystic kidney disease: causes, symptoms, and treatments

A hereditary disease that leads to the formation of noncancerous cysts. But it compromises kidney function. The only drug that works

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polycystic kidney disease

Il polycystic kidney disease It is the most common form of hereditary kidney disease. It is a genetic disorder that leads to the formation of noncancerous cysts that grow larger over the years and can even spread to other organs.

POLYCYSTIC KIDNEY DISEASE

Polycystic kidney disease (PCKD) is continually deformed throughout life. Initially, the cysts are small and few in number, but then they grow in number and size until they occupy the entire kidney and even spread outside, into other organs. The most serious problem is that the cysts destroy kidney tissue, and therefore kidney function, forcing the patient to dialysis.

INCIDENCE OF POLYCYSTIC KIDNEY DISEASE

Adult polycystic kidney disease, also commonly referred to as ADPKD, is one of the most common genetic diseases, with an incidence of 1 in 1.000. It is also the leading cause of kidney failure in adults.

CAUSES

Polycystic kidney disease is a genetic disease, and all scientific studies are focused on deepening this aspect of the pathology. It has thus been discovered that inheriting a mutated gene from one of the two parents is enough to develop the disease. This cause represents the 90 percent of cases of polycystic kidney disease e appears between the ages of 30 and 40.

Two genes have been identified to date, each with its own type of polycystic kidney disease. Autosomal recessive polycystic kidney disease (PCD) requires inheriting an abnormal gene from both parents. Polycystic kidney disease, a rarer form, requires inheriting the abnormal gene from just one parent.

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TYPES OF POLYCYSTIC KIDNEY DISEASE

Polycystic kidney disease (PCKD) is a disease that has attracted the attention of many medical institutions due to its genetic nature and the challenges it presents in clinical management. This disease manifests itself with the formation of cysts in the kidneys and, depending on its genetic origin, can be classified into two main types:

  • Autosomal Dominant Polycystic Kidney Disease (ADPKD)
  • Autosomal Recessive Polycystic Kidney Disease (ARPKD)

But let's look at them in detail.

AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE (ADPKD)

Il Autosomal Dominant Polycystic Kidney Disease (ADPKD), as evidenced by theMario Negri Institute, is the most common form. It affects a wide range of individuals, with a prevalence of approximately 1 in 400-1000 people.

Although it can occur at any stage of life, it is most common in adulthood. Patients with ADPKD often complain of lower back pain, urinary tract infections, and may develop kidney stones.

THEhypertension This is another common symptom. This form of polycystic kidney disease is caused by mutations in the PKD1 or PKD2 genes. Although there is no definitive cure, symptoms can be managed through various treatments.

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE (ARPKD)

Il Autosomal Recessive Polycystic Kidney Disease (ARPKD) is less common but tends to be more severe. It occurs mainly in infants and children, a possibility that often leads to renal failure in childhood.

In addition to kidney problems, patients may have liver complicationsThis form is caused by mutations in the PKHD1 geneEarly management of symptoms, particularly hypertension and liver problems, is essential to ensure a better quality of life.

THEIstituto Superiore di Sanita (ISS) emphasizes the importance of early diagnosis and symptom management. Understanding and addressing this disease are essential to offering patients a personalized treatment approach and improving their quality of life.

SYMPTOMS

La polycystic kidney disease, commonly known as PKD, is a complex condition that can manifest itself in various ways in the human body. One of the first signs that might alarm a person is the painLet's look at all the symptoms together:

  • Localized discomfort in the lumbar region o abdominalIt should not be underestimated and can derive from the growth of cysts, but also from infections or the presence of kidney stones.
  • HypertensionThis is another worrying and often overlooked symptom that can develop before any noticeable decline in kidney function occurs. This means the body may already be under stress from the disease, even if the kidneys appear to be functioning normally.
  • THEhematuria: or the presence of blood in the urine, is another warning sign. This could be caused by a ruptured cyst, an event that can be both painful and frightening.
  • Le kidney infectionsCysts can become infected, causing symptoms such as fever and pain. These infections can be serious and require immediate treatment.
  • I kidney stonesPKD also increases the risk of developing solid formations in the kidneys that can cause severe pain and other problems.

But PKD doesn't just affect the kidneys. It can have effects in other parts of the body, such as the formation of cysts in the liver and heart problems. In some cases, it can also cause problems with the blood vessels in the brain.

It's essential to be aware of these symptoms and consult a doctor or specialist for an accurate diagnosis and to discuss specific symptoms. Knowledge and understanding of PKD are essential to managing the disease and maintaining a good quality of life.

DIAGNOSIS

Diagnosis of polycystic kidney disease is an essential process to identify and manage this genetic disease. early diagnosis It is essential to monitor and manage disease progression.

La genetic counseling, for example, can help establish the risk that a couple affected by or carriers of a form of polycystic kidney disease may have a child with the same pathology. This is particularly relevant because polycystic kidney disease, in most cases, can be transmitted genetically.

In addition to genetic counseling, there are other diagnostic methods used to identify the presence and severity of polycystic kidney disease. These may include: blood tests, urine analysis and imaging techniques such asechography, The computed tomography (CT) and magnetic resonance imaging (MRI)These diagnostic tools can reveal the presence, size, and location of kidney cysts, as well as provide information about kidney function.

PRIEST

At the moment, the only drug approved by international authorities for the treatment of polycystic kidney disease is Tolvaptan, which is able to slow down the worsening of kidney function, but in exchange produces a significant increase in diuresis.

The Mario Negri Institute has documented, with a series of very in-depth studies developed over several years, that theoctreotide-LAR It slows the worsening of kidney function in the early stages of the disease. According to some studies, treatment with octreotide – LAR, carried out for three years, can slow the growth of cysts and the increased risk of kidney failure.

The drug is reimbursable and prescription-only, and side effects include diarrhea, gallstone formation, and gallstones.

REMEDIES

Given the lack of effective treatments for polycystic kidney disease, some natural remedies may be effective. Among these, the most important are:

PREVENTION

Preventing polycystic kidney disease is not easy, as it is a genetic disease. In addition to all the necessary recommendations for protect the kidneysThe most effective prevention for this pathology is genetic counseling for the parents, which allows them to establish whether the conditions exist for passing this hereditary disease on to their children.

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