Sudden severe headache unlike any before is an emergency. Call an ambulance. Polycystic kidney disease is associated with brain aneurysms. Also seek urgent care for fever with loin pain, or heavy blood in the urine.
An inherited condition in which fluid-filled cysts multiply in both kidneys, gradually enlarging them and destroying working tissue. It runs in families, and each child of an affected parent has a one in two chance of inheriting it.
Two things are frequently missed in this condition. There is now a medication that slows it. And it is associated with brain aneurysms, which are worth screening for in the right families.
The autosomal dominant form is the common one, caused by a fault in one of two genes and passed from an affected parent to half their children on average. Cysts form in both kidneys and multiply over decades, enlarging the kidneys enormously — sometimes to many times normal size — while destroying the functioning tissue between them.
Kidney function usually remains normal for decades before declining, typically in the fourth to sixth decade. Not everyone reaches end-stage disease, and the rate of progression varies considerably between families and between individuals.
It is not only a kidney disease. Cysts in the liver are common and usually harmless, though occasionally they grow large enough to cause symptoms. Diverticular disease and heart valve abnormalities occur more often. Most importantly, intracranial aneurysms are more frequent than in the general population, particularly in families where someone has had a subarachnoid haemorrhage.
The autosomal recessive form is different — it presents in infancy or childhood, is far less common, and is associated with liver fibrosis. It requires a quite different approach.
Intracranial aneurysms are more common in polycystic kidney disease, and they cluster in families. Screening with MR angiography is generally recommended where a first-degree relative has had a subarachnoid haemorrhage or an aneurysm, and is considered in certain other situations such as before major surgery or for those in high-risk occupations. Routine screening of everyone with the condition is not standard, but a family history changes that. If someone in your family has had a brain haemorrhage, raise it specifically — it is regularly not asked about.
Ultrasound diagnoses it; the family history shapes what else is needed.
Who else in the family is affected, at what age they reached dialysis or transplant if they did, and whether anyone has had a brain haemorrhage. The age at which relatives progressed is genuinely predictive, and a family history of haemorrhage changes whether brain screening is recommended. Send that with your ultrasound or MRI report and your creatinine results over time.
Blood pressure control matters most, and there is now a drug that slows the disease itself.
Rigorous blood pressure control, generally with a drug blocking the renin-angiotensin system, is the most effective and best-established intervention. Ample fluid intake, reduced salt, avoiding anti-inflammatory painkillers and maintaining a healthy weight all help. Treating infections promptly protects remaining function.
A medication shown to slow the growth of cysts and the decline in kidney function in selected patients — typically those with evidence of rapid progression judged by kidney volume and rate of decline. It causes considerable thirst and frequent urination, and requires monitoring of liver function, so it is not suitable for everyone.
Antibiotics for infected cysts, which need drugs that penetrate cyst fluid. Pain management, and occasionally drainage or surgery for very large symptomatic cysts. Treatment of blood in the urine and of kidney stones, which are more common.
Transplant works well in this condition and is the preferred treatment for end-stage disease. The enlarged native kidneys are usually left in place unless they are so large that there is no room for the graft, or they are repeatedly infected. A related donor must be screened carefully, since they may carry the condition themselves.
Total kidney volume and the trend in eGFR indicate whether the disease is progressing rapidly, which determines whether tolvaptan is worthwhile.
Determines whether brain screening is recommended. This should be asked about explicitly.
A sibling or child donor may carry the condition without symptoms. They must be imaged and, where appropriate, genetically tested before being accepted.
A relative offering to donate must be screened for the condition themselves. A donor with early polycystic disease would be putting their own future kidney function at risk, and a good programme will not accept them.
A sudden severe headache in someone with polycystic kidney disease must be treated as a possible brain haemorrhage until proven otherwise. That means an ambulance, not a plan.
Photographs taken on your phone are fine. Reports in Arabic, Russian or Bengali are fine — we translate them ourselves.
In the common autosomal dominant form, each child has a one in two chance. Testing children is usually deferred until adulthood, because there is no treatment that benefits them earlier and a diagnosis can affect insurance and employment. Blood pressure should be monitored in at-risk children, since raised pressure can appear early.
Tolvaptan slows cyst growth and the decline in kidney function in selected patients, generally those with evidence of rapid progression. It causes considerable thirst and frequent urination and requires liver function monitoring, so it is not suitable for everyone. Whether it is worthwhile depends on your kidney volume and rate of decline.
Screening is generally recommended where a first-degree relative has had a subarachnoid haemorrhage or a known aneurysm, and is considered in certain other circumstances. It is not routine for everyone with the condition. If anyone in your family has had a brain haemorrhage, say so explicitly — it is frequently not asked about.
Usually not. The enlarged kidneys are generally left in place and the new kidney implanted in the lower abdomen. Removal is considered where the kidneys are so large there is no room, where they are repeatedly infected, or where they cause intractable pain or bleeding. Leaving them avoids an additional major operation.
Only after she has been properly screened and shown not to be affected. Imaging and, where results are unclear, genetic testing are required. A donor with early polycystic disease would be giving away a kidney she will need herself, and no responsible programme will accept that.
Anti-inflammatory painkillers, which harm the kidneys. Contact sports carrying a risk of injury to enlarged kidneys. Dehydration. Smoking, which accelerates progression. Ample plain water intake is generally encouraged, and salt reduction helps blood pressure control considerably.
Send your kidney imaging and creatinine trend, and tell us who else in the family is affected and at what age they progressed. Family pattern is genuinely predictive.
Your reports go directly to our medical team. We do not share your records with hospitals until you tell us to.
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