Polycystic kidney: causes and symptoms

It is caused by an inherited genetic mutation, which in the most common variant can remain asymptomatic or begin to manifest itself in adulthood.

Polycystic kidney disease or syndrome, known as polycystic kidney, is a complex condition due to genetics and hereditary transmission. Characterized mainly by the formation of cysts in the kidneys, with progressive degeneration and functional impairment of the two organs, it can be accompanied by alterations of various types affecting several other organs.

In the most common form, which affects one in 500-1,000 people in the population, it causes the first symptoms only in adulthood and has a slow course, while in the rarest form, which affects one in 20,000-40,000 newborns, it manifests itself immediately after birth with a rapidly negative evolution.

How it is transmitted

In the polycystic kidney of the adult the alteration of the renal tissue that leads to the development of cysts is determined by the mutation of one of two genes (in 85% of cases it is PKD1 and in the remaining part of PKD2), mutation that is transmitted and gives rise to a disease with an autosomal dominant mechanism, that is, when even one of the parents is affected.

In early-onset disease, on the other hand, there is a mutation (of the PKHD1 gene) that is transmitted and gives rise to a disease with an autosomal recessive mechanism, that is, only if both parents are healthy carriers.

Symptoms

In adult disease, which is the most frequent, genetic mutations modify the functions and development of the cells of the renal tubules, so as to deform their walls in cystic dilatations.

The disease is present from birth, but it is with time that kidney cysts increase in number and size, being able to progressively alter the internal structure and functioning of the organ.

In fact, in a part of the subjects the disease never gives symptoms and may not be diagnosed. In those in which it occurs, symptoms generally appear after the age of thirty and are attributable to infectious and inflammatory complications or to the gradual impairment of renal function.

By 60-70 years of age, at least 50% of symptomatic patients develop severe renal failure, requiring dialysis replacement treatment or transplantation.

The initial symptoms may be non-specific:

  • dull and persistent abdominal or lumbar pain or sometimes acute in the form of colic
  • fever
  • presence in the urine of blood (hematuria), protein (proteinuria), white blood cells and bacteria (pyuria)
  • increased blood pressure.

When coexisting, extra-renal manifestations are represented by:

  • cysts in the pancreas, liver, seminal vesicles, meninges
  • aneurysms of the aorta and intracranial arteries
  • abnormalities of the heart valves.

How to diagnose

Family history, i.e. the presence of other cases of illness among relatives, can be useful in guiding diagnostic investigations.

In addition to physical examination with palpation of the renal lodges, some instrumental examinations are usually carried out (abdominal ultrasound, CT scan, magnetic resonance imaging, renal scintigraphy, urography as appropriate) and laboratory tests on blood and urine for the evaluation of renal function and for the diagnosis of any urinary infections.

Genetic tests are reserved for cases of uncertain diagnosis and can be recommended to first-degree relatives of those affected by the disease.

Treatment

Polycystic kidney disease is not a disease subject to healing.

Currently, the therapy is basically aimed at controlling complications, such as hypertension, infections and pain, or to compensate for impaired kidney function.

Some more specific pharmacological treatments, aimed at slowing, if not preventing, the progression of the disease are currently being studied and tested.

Joycelyn Elders is the author and creator of EmpowerEssence, a health and wellness blog. Elders is a respected public health advocate and pediatrician dedicated to promoting general health and well-being.

The blog covers a wide range of topics related to health and wellness, with articles organized into several categories.

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