Polycystic kidney disease (ADPKD): symptoms, treatment and outlook

The NHS says problems typically begin between about 30 and 40 years, or between 30 and 60 depending on the page, although children and older people can occasionally have symptoms. Pain in the tummy, side or lower back is often the first noticeable symptom. It can be severe but is usually short-lived, lasting minutes to several days, and may come from a cyst enlarging, bleeding into a cyst, a kidney stone or a urinary infection.

Blood in the urine is another common early sign. The NHS says it is not usually a cause for concern and most cases resolve within a week, but you should see a GP so that other causes can be excluded. Many experts consider high blood pressure the first effect of ADPKD, and it often causes no symptoms and is found on routine testing. Kidney stones are more likely. ADPKD does not increase the risk of bladder infections, but it can mean that any lower infection spreads to the kidneys and becomes serious.

• Persistent headache, blurred or double vision, nosebleeds or breathlessness may signal very high blood pressure and need prompt review.

• Fever, feeling sick or shivery with ADPKD may signal a kidney infection; the NHS advises urgent advice from 111 or a GP.

• Intense pain with restlessness and nausea may signal a kidney stone.

There is no cure and cysts cannot be prevented, but the NHS says the problems that arise can be treated and a healthy lifestyle may help protect kidney function. Blood pressure is usually treated with ACE inhibitors or angiotensin-2 receptor blockers, with salt reduced to under 6 g a day. For pain, paracetamol is the first choice. NSAIDs such as ibuprofen are usually avoided because they can disrupt kidney function, although a short course may sometimes be safe when blood pressure and kidney function are well controlled. Large cysts are occasionally drained.

Tolvaptan is a tablet taken twice a day that can slow the growth of cysts and preserve kidney function for longer. The NHS says NICE recommends it for adults with chronic kidney disease stage 2 or 3 at the start of treatment and evidence of rapidly progressing disease. NICE published its appraisal in October 2015. Side effects include thirst and passing urine often, and liver damage has been reported, so frequent monitoring through hospital clinics is needed at first. Kidney Research UK says it has been available across the UK since early 2016.

Polycystic kidney disease (PKD) is the name for a group of inherited disorders in which fluid-filled sacs, called cysts, grow in the kidneys. Kidney Research UK describes the two major forms as autosomal dominant (ADPKD) and autosomal recessive (ARPKD). ADPKD is the more common and is the most common inherited condition to affect the kidneys, although the NHS notes it is still relatively uncommon.

People with ADPKD are born with it, but the NHS says it rarely causes noticeable problems until the cysts have grown large enough to affect how the kidneys work. The cysts can make the kidneys much larger than normal; Kidney Research UK says sometimes to three or four times their usual size. The kidneys also help control blood pressure, balance salt and water, and make hormones needed for blood and bone, so changes can have effects beyond filtering waste.

Faults in one of two genes are known to cause ADPKD: PKD1, which the NHS says accounts for around 78% of cases, and PKD2, around 15%. Both have the same symptoms, but they tend to be more severe with PKD1. A child has a 1 in 2 (50%) chance of developing ADPKD if one parent carries the faulty gene.

Not everyone has a known family history. The NHS says that in up to 1 in 4 cases a person develops ADPKD without one, perhaps because a relative was never diagnosed or died before symptoms were recognised, and in around 1 in 10 cases the mutation arises for the first time in the affected person. That person can still pass it on to their children. ARPKD is a rarer type that is inherited only if both parents carry the faulty gene, with problems usually starting in childhood.

ADPKD tends to be diagnosed in adults over 30. A GP asks about symptoms and family history, checks blood pressure and may arrange urine tests for blood or protein and blood tests to estimate kidney filtering (GFR). An ultrasound scan looks for cysts in the kidneys and in organs such as the liver. A CT or MRI scan may be used for more detail, and the NHS says an MRI is recommended if there is a family history of brain aneurysms.

Screening relatives is described by the NHS as controversial. Some argue it achieves little because nothing stops ADPKD developing and a diagnosis can cause anxiety; others argue that finding it allows blood pressure to be treated and complications to be anticipated. Imaging can miss very small cysts in younger people, and genetic testing, which is more sensitive, may still be negative in about 10% of people with ADPKD. Kidney Research UK adds that a specific diagnosis usually requires DNA analysis, and that a kidney specialist can advise on whether family members should be offered screening.

The NHS says to see a GP if you notice blood in your urine so that other causes, such as a growth in the bladder, can be excluded, even though it is often not a cause for concern and most cases resolve within a week.

See a GP straight away if you have a persistent headache, blurred or double vision, nosebleeds or shortness of breath, which can occur when blood pressure becomes very high. Get advice from 111 or ask for an urgent GP appointment if you may have a kidney stone, with intense pain in the back or side of the tummy, restlessness and nausea. The NHS also says a lower urinary infection can spread to the kidneys in ADPKD and become serious, so get prompt advice for fever or feeling shivery with urinary symptoms.

The NHS says the outlook is highly variable. Some people reach kidney failure soon after diagnosis; others live their whole lives with kidneys that work reasonably well. On average around half need treatment for kidney failure by 60. When that happens the two main options are dialysis and a kidney transplant, and a living person can donate because only one kidney is needed. Some people choose supportive care without either.

Other complications include heart attacks and strokes caused by high blood pressure and bleeding on the brain from an aneurysm. Because kidneys with cysts are more vulnerable to injury, the NHS and Kidney Research UK both advise avoiding contact sports such as rugby and football. Clinical teams pass information about people with ADPKD to the National Congenital Anomaly and Rare Diseases Registration Service, and people can opt out at any time.

On the NHS, ADPKD is usually diagnosed through your GP with blood, urine and ultrasound tests and managed with a kidney specialist (nephrologist). Tolvaptan is recommended by NICE for selected adults and is started and monitored in hospital kidney clinics. Dialysis and transplant are NHS services. Private nephrology consultations and scans can speed up diagnosis, but routine blood pressure control, medicines and the specialist tolvaptan monitoring follow the same clinical pathway. The NHS recommends asking for a referral to a kidney specialist if you want to discuss screening for family members.