Polycystic kidney disease (PKD) is an inherited condition in which numerous fluid-filled cysts grow in both kidneys, slowly enlarging them and crowding out healthy tissue. The common form, autosomal dominant PKD (ADPKD), affects about 1 in 1,000 people and is usually diagnosed in adulthood. The rare recessive form (ARPKD) presents in babies and children.
ADPKD progresses over decades. About half of affected people reach kidney failure by around the age of 60, though this varies widely with the gene involved and kidney size. Blood pressure control and, for those progressing quickly, tolvaptan can slow the decline.
Symptoms
- High blood pressure, often in the 20s or 30s, before kidney function changes
- Aching or pain in the flank, back or abdomen
- A feeling of fullness or an enlarging abdomen
- Blood in the urine after a cyst bleeds
- Recurrent urinary or cyst infections
- Kidney stones
- Liver cysts, usually without symptoms, more prominent in women
- Headache history matters: brain aneurysms are more frequent than in the general population
Causes and risk factors
ADPKD is caused by a variant in PKD1 (about 78 percent, more severe) or PKD2 (about 15 percent, milder), with rarer genes accounting for the rest. Each child of an affected parent has a 1 in 2 chance of inheriting it. Around 1 in 10 patients have no family history because of a new mutation or an undiagnosed mildly affected parent. ARPKD results from PKHD1 variants inherited from both carrier parents. Cysts enlarge under the influence of vasopressin and cyclic AMP, which is the pathway that tolvaptan blocks.
How it is diagnosed
- Kidney ultrasound: First test in someone with a family history. Age-based criteria apply: for ages 15 to 39, three or more cysts in total are sufficient.
- MRI or CT with total kidney volume: Kidney volume adjusted for height and age gives the Mayo imaging class, the best predictor of how fast function will fall.
- Genetic testing: Useful when imaging is inconclusive, there is no family history, for a young potential living donor, or for embryo testing.
- eGFR, urine tests and blood pressure: Monitored at least yearly.
- MR angiography of the brain: Screening for aneurysm is advised when there is a family history of aneurysm or brain haemorrhage, or before major surgery.
- Liver imaging: Documents polycystic liver disease.
Treatment options
- Blood pressure control: ACE inhibitor or ARB, with a low target of around 110 over 75 in younger patients with good function, if tolerated.
- Tolvaptan: A vasopressin blocker that slows kidney growth and eGFR decline in rapidly progressive ADPKD. It causes marked thirst and frequent urination and requires monthly liver tests at first.
- Hydration and salt restriction: Generous water intake and low salt reduce vasopressin drive, within limits set by your doctor.
- Pain management: Paracetamol first; cyst aspiration, laparoscopic deroofing or nerve blocks for persistent severe pain. Anti-inflammatory painkillers are avoided.
- Treating cyst infection and bleeding: Antibiotics that penetrate cysts for several weeks; rest and fluids for bleeding.
- Dialysis and transplant: Transplantation is the preferred treatment for kidney failure. Very large kidneys are occasionally removed to make space or relieve symptoms.
- Family planning: Genetic counselling; pre-implantation genetic testing with IVF is an option for couples who want it.
When it is urgent
Call emergency services locally for a sudden, severe thunderclap headache, with or without neck stiffness or vomiting, as it may signal a ruptured aneurysm. Also seek urgent care for high fever with flank pain, heavy bleeding in the urine with clots, or sudden severe abdominal pain.
Travelling to Türkiye for treatment
PKD is lifelong and monitoring belongs at home: blood pressure, yearly kidney function and, on tolvaptan, regular liver tests. A visit can provide MRI kidney volume measurement with a risk classification, genetic testing, brain aneurysm screening and a specialist opinion on whether tolvaptan is appropriate, all within 2 to 3 days. Transplant assessment with a living related donor is possible, but relatives must first be shown not to have PKD themselves.
Send your reports, scans and a short history and a Clinic-Y coordinator replies within 24 hours with suitable teams and written, all-inclusive proposals side by side. Reviewing your case is free.
Frequently Asked Questions
Will my children have it?
Each child has a 1 in 2 chance in ADPKD. Testing children without symptoms is a personal decision, but their blood pressure should be checked regularly.
Can diet shrink the cysts?
No diet has been proven to. Low salt, good hydration, a healthy weight and avoiding smoking are sound. Ketogenic approaches remain under study.
Should cysts be drained?
Only a dominant cyst that causes pain. Draining does not preserve kidney function, since there are usually hundreds.
Does everyone with PKD need dialysis?
No. Many with PKD2 variants or small kidneys for their age keep adequate function into old age.