Polycystic Kidney Disease (PKD) — Valencia

What is polycystic kidney disease?

Polycystic kidney disease (PKD) is an inherited disorder in which numerous fluid-filled cysts develop in the kidneys. Over time these cysts grow, enlarge the kidneys and gradually replace healthy tissue, which slowly reduces kidney function. It is one of the most common life-threatening genetic conditions and a significant cause of kidney failure worldwide. Because it is inherited and lifelong, it benefits from early diagnosis, structured monitoring and consistent care.

ADPKD versus ARPKD

There are two main forms, and they differ greatly:

• Autosomal dominant PKD (ADPKD) is the common form, usually diagnosed in adulthood. It follows a dominant inheritance pattern, so each child of an affected parent has a 50% chance of inheriting it. Most cases are caused by mutations in the PKD1 or PKD2 genes, with PKD1 generally causing earlier and faster progression. Symptoms often appear between the ages of 30 and 50.
• Autosomal recessive PKD (ARPKD) is rare and usually presents in infancy or childhood. It requires a faulty gene from both parents and tends to be more severe early in life, often affecting the liver as well as the kidneys.

Genetics and family screening

Because ADPKD runs in families, relatives often want to know their own risk. Adult family members can be assessed with ultrasound or, for greater accuracy in younger people, MRI. Genetic testing can confirm the specific mutation, which is useful for family planning and for clarifying ambiguous scans.

Screening is always a personal choice and is best approached with genetic counselling, which explains the implications for insurance, employment, family planning and emotional wellbeing. Screening of healthy children is generally discouraged unless there is a clear clinical reason, so that they can make their own informed decision as adults.

How cysts affect kidney function

In a healthy kidney, the filtering units work efficiently to clean the blood. In PKD, cysts gradually expand, compress surrounding tissue and disrupt this filtering. The kidneys can become very large — sometimes many times their normal size — yet function may remain stable for years before declining.

The pace varies between individuals and depends partly on the genetic mutation. Monitoring the rate of decline, often using total kidney volume measured on MRI alongside blood tests, helps predict progression and identify who may benefit most from treatment.

Complications beyond the kidneys

ADPKD is a systemic condition, so monitoring extends beyond the kidneys:

• High blood pressure is the most common and earliest complication, often appearing well before kidney function falls. Controlling it is central to protecting the kidneys.
• Liver and pancreatic cysts are frequent; liver cysts are usually harmless but can occasionally cause discomfort.
• Brain aneurysms occur more often than in the general population, especially where there is a family history; targeted screening may be advised in those cases.
• Kidney stones, infections and heart valve abnormalities can also occur.

Tolvaptan and monitoring protocols

For many years, treatment focused on managing blood pressure and complications. Today, tolvaptan — a vasopressin receptor antagonist — can slow cyst growth and the decline in kidney function in selected adults with rapidly progressing ADPKD. It increases thirst and urination and requires regular liver-function monitoring, so it is prescribed and supervised carefully.

Ongoing care typically includes periodic blood pressure checks, blood and urine tests for kidney function, and imaging to track kidney size. Alongside medication, a kidney-friendly approach — good hydration, reduced salt, blood pressure control and a balanced Mediterranean diet — supports long-term kidney health.

Maintaining care continuity as an expat

PKD is a lifelong condition, and consistent monitoring is what protects your kidneys over decades. For international patients who divide their time between Valencia and other countries, keeping organised records — imaging, kidney function results, blood pressure logs and genetic reports — allows any specialist to continue your care without gaps. A bilingual nephrologist can explain every step clearly in English and coordinate with your doctors abroad, so your monitoring, blood pressure control and any treatment such as tolvaptan remain uninterrupted wherever you are.