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Polycystic kidney disease is a hereditary genetic disorder characterized by the progressive formation of multiple fluid-filled cysts in the kidneys. These cysts can increase in size and enlarge the kidneys, progressively reducing healthy kidney tissue and their ability to function properly. It can lead to chronic kidney disease and also affect other organs, especially the liver. The two main forms are autosomal dominant polycystic kidney disease (ADPKD), the most common, and autosomal recessive polycystic kidney disease (ARPKD), much less common and generally appearing in childhood. Read more about: Hereditary Kidney Diseases or HKD The symptoms and the age of onset can vary greatly depending on the type of renal cystic disease and its progression. The autosomal dominant form may go unnoticed for years, while the autosomal recessive form usually manifests during pregnancy, childhood, or the early years of life. The most common symptoms and manifestations may include: Renal cystic disease may also present manifestations outside the kidneys. Depending on the type, cysts may appear in the liver or other abnormalities. In the autosomal recessive form, liver involvement is particularly relevant and, in the most severe cases, kidney problems may begin before birth. Renal cystic disease is a genetic disorder caused by alterations in genes involved in the development and functioning of the kidneys. Usually, these alterations are inherited from parents, although in some cases they may appear spontaneously (de novo mutations). Non-hereditary forms with multiple renal cysts correspond to other cystic diseases and not to true renal cystic disease. • Autosomal recessive renal cystic disease (ARPKD): it is much less common and requires inheriting two altered copies of the gene, one from each parent. It usually manifests during gestation, childhood, or the early years of life. El diagnòstic de la poliquistosi renal combina els antecedents personals i familiars, les proves d’imatge, les anàlisis de sang i d’orina i, en determinats casos, l’estudi genètic. La manera de confirmar el diagnòstic pot variar segons l’edat, els antecedents familiars i el tipus de poliquistosi que se sospita. Currently, the treatment of renal polycystosis aims to preserve kidney function, control symptoms, and prevent or treat complications. The follow-up is adapted to the type of polycystosis, age, kidney function, and the manifestations presented by each person. Polycystic kidney disease is a genetic condition and, therefore, it cannot be prevented from occurring when the responsible alteration exists. However, measures can be taken to reduce the risk of complications and protect kidney function for a longer time. Renal polycystosis can evolve very differently from one person to another. Regular follow-up and a good understanding of the disease help anticipate complications, preserve kidney function, and maintain the highest possible quality of life. At Fundació Puigvert, individuals with hereditary kidney diseases have access to a specialized approach that integrates Clinical Nephrology, genetic diagnosis, genetic counseling, and multidisciplinary follow-up, with personalized protocols based on each patient’s characteristics. Seek support from patient associations and programs of activities aimed at patients and their emotional environment. Llegeix més sobre com abordem les Hereditary Kidney Diseases a la Fundació Puigvert, incloent-hi el diagnòstic genètic, el consell genètic, l’atenció multidisciplinària i el treball en xarxa amb centres de referència. Coneix el nostre Nephrology Service i les seves Units. The Fundació Puigvert participates in different studies on Autosomal Dominant Polycystic Kidney Disease (ADPKD). Learn about our Nephrology Research Group and our research and innovation lines. Is renal polycystosis always hereditary? Having cysts in the kidneys means having renal polycystosis? Does renal polycystosis always affect both kidneys? Can one have renal polycystosis and not have symptoms? Does renal polycystosis always cause kidney failure? Can it affect other organs besides the kidneys? Should family members get tested? Can renal polycystosis be cured?
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What is it?
Symptoms
Causes and risk factors
Main causes:
Risk factors:
Types of renal cystic disease:
How do we diagnose it?
Knowing if there are other family members with renal cystic disease, kidney cysts, or kidney disease is especially important, as it is a genetically inherited condition. Symptoms, age of onset, and possible manifestations in other organs are also assessed.
Renal ultrasound is one of the main tests to detect cysts and assess the size and structure of the kidneys. In some cases, computed tomography (CT) or magnetic resonance imaging (MRI) may also be used, which provide more detailed images.
These allow for the assessment of kidney function, detection of possible associated abnormalities, and monitoring. Among other parameters, serum creatinine can be determined and the estimated glomerular filtration rate (eGFR) calculated, which approximately indicates the kidneys’ ability to filter blood.
It can help confirm the genetic origin of the disease and identify the responsible alteration, especially when imaging diagnosis is inconclusive, there is no clear family history, or it is important to know the inheritance pattern. It can also be useful for providing genetic counseling to the affected person and their family.
How do we treat it?
Hypertension is common in some forms of polycystosis, and adequately controlling it is important to protect kidney function and reduce cardiovascular risk.
Periodic checks of blood pressure, lab tests, and imaging studies are performed according to each patient’s needs. This follow-up allows for the detection of changes in kidney function and early action in the face of possible complications.
Urinary infections or cyst infections, kidney stones (lithiasis), pain, or bleeding within the cysts require specific treatment. In selected cases, if a cyst causes significant pain or other problems, it may be necessary to consider procedures to treat it.
If kidney function decreases, standard measures are applied to slow the progression of chronic kidney disease and treat its complications. When the disease reaches very advanced stages, dialysis or a kidney transplant may be necessary.
Some forms of polycystosis can affect other organs, especially the liver. The follow-up and treatment of these manifestations depend on the type of disease and may require the coordinated participation of different specialists.
Since it is an inherited disease, genetic counseling can help affected individuals and their families understand the inheritance pattern, the risk of transmission, and the options available in each situation. Fundació Puigvert has specific expertise and a Genetics and Molecular Biology Laboratory for the diagnosis of hereditary kidney diseases.
Prevention tips
High blood pressure can promote the deterioration of kidney function. Keeping it well controlled is one of the most important measures to protect the kidneys and reduce cardiovascular risk.
Engaging in regular physical activity, maintaining a healthy weight, avoiding tobacco, and following a balanced diet contribute to protecting renal and cardiovascular health. Recommendations should be adapted to the age, health status, and kidney function of each person.
It is important to avoid self-medication and consult before taking medications or products that may affect kidney function, especially when kidney disease already exists.
Periodic checks of blood pressure, kidney function, and imaging tests allow for early detection of possible complications and adaptation of follow-up to the evolution of the disease.
When polycystic kidney disease exists in a family, genetic counseling can help understand the inheritance pattern, the risk of transmission, and the diagnostic options available for other family members. Fundació Puigvert has a Molecular Genetics Laboratory specialized in hereditary kidney diseases.
Living with the disease
Periodic visits allow for monitoring blood pressure, kidney function, the size and evolution of cysts, and possible manifestations in other organs.
Regular physical activity is beneficial for cardiovascular health and helps control weight and blood pressure. The type of exercise should be adapted to each person, and if the kidneys are significantly enlarged, it may be necessary to avoid activities with a risk of significant blows to the abdomen or lower back.
A balanced diet with moderate salt intake helps control blood pressure. If chronic kidney disease exists, recommendations regarding proteins, potassium, phosphorus, or fluids should be individualized based on kidney function and lab results.
It is important to inform the healthcare team if intense or persistent pain, blood in the urine (hematuria), fever, urinary infection symptoms, or other relevant changes occur that may indicate a complication.
Knowing the type of polycystosis and its inheritance pattern can help both the affected person and the family make informed decisions about follow-up and, when necessary, genetic testing.Patient associations and support resources:
In Catalonia:
At the national level:
Organization and care team
Our research lines
Frequently asked questions
Renal polycystosis is a genetic disease. Usually, the alteration is transmitted within the family, but in some cases, a new mutation (de novo) may appear without known family history.
No. Simple renal cysts are common, especially with age, and do not equate to having renal polycystosis. There are also other acquired cystic diseases. The diagnosis depends on the number and distribution of the cysts, age, family history, and other findings.
In classic hereditary forms, the cysts usually affect both kidneys, although the quantity, size, and progression can vary greatly from one person to another.
Yes. Some people may go many years without noticing any symptoms, especially in autosomal dominant renal polycystosis. The disease can be detected through imaging tests, high blood pressure, or family studies.
Not necessarily. The evolution is very variable. Some people maintain adequate kidney function for many years, while in others, the disease may progress to advanced chronic kidney disease. Read more about: Chronic Kidney Disease or CKD.
Yes. Depending on the type of polycystosis, cysts or alterations may appear in other organs, especially the liver. Some extrarenal manifestations are more characteristic of specific forms and require specific monitoring.
When there is a diagnosis of renal polycystosis, it may be advisable to evaluate other family members. The type of tests and the most appropriate timing depend on age, inheritance pattern, and the situation of each person. Genetic counseling can help make this decision.
Currently, there is no treatment that eliminates the genetic cause of all forms of renal polycystosis. Treatment focuses on controlling blood pressure, preserving kidney function, treating complications, and, in some specific types, using treatments aimed at slowing the progression of the disease.
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