Polycystic Kidneys

Madeleine Moon Excerpts

Tuesday 6th November 2012 Commons Chamber

[Mrs Madeleine Moon (Bridgend) (Lab)]

I would like to begin by declaring an interest. I am a joint chair of the all-party parliamentary kidney group. Earlier this year, the group heard a moving presentation from representatives of the Polycystic Kidney Disease charity, led by Tess Harris, its chief executive. I would also like to mention my constituent Judith French, who suffers from polycystic kidney disease. It is the testimony I have heard from those two ladies that brings me to the Chamber today.

We have known about polycystic kidney disease since the 1500s, but in spite of such a long history, significant breakthroughs in research have been achieved only in the past 20 years. King Bathory is regarded as one of Poland’s most successful monarchs. During his short 10-year reign, he reformed the army and judicial system, and notably saw off Ivan the Terrible in 1581. Sadly, he died early because he suffered from polycystic kidney disease. His diagnosis was confirmed only 400 years after his death, when academics analysed his case.

Since King Bathory’s reign, our ability to treat and cure a wide range of complex conditions has developed beyond what many would have thought was possible. Sadly, that progress has not been felt by those diagnosed with polycystic kidney disease, known as PKD. That is all the more surprising because it is not a rare condition. The cause is a mutation in one gene that leads it to function abnormally. The disease is characterised by the progressive enlargement of cysts in both kidneys. There are two types of PKD: autosomal dominant PKD, which affects 85% of patients, and autosomal recessive PKD. The second type is rare, affecting 1 in 20,000 live births. Tragically, newborn babies with that condition have a high mortality rate in the first month of life. Those who survive are likely to have a much reduced life expectancy. I shall focus my remarks on ADPKD.

[Tracey Crouch (Chatham and Aylesford) (Con)]

I congratulate the hon. Lady on securing this Adjournment debate. Does she agree that although the condition might not be rare, it is relatively unknown, and as a consequence of the lack of awareness, unfortunately mistakes can be made, for example in the assessment of the ability of people with PKD to work? I have had recent experience of such a case involving a constituent of mine.

[Mrs Moon]

The hon. Lady is absolutely correct. This is a little-known condition, and the horrific nature and impediments caused by the condition as it progresses are little known and little appreciated. Often, people can look quite normal but be suffering tremendously. I commend her work in trying to raise awareness.

For individuals with ADPKD, it is a truly disabling, painful and limiting condition. Kidneys become enlarged, leaving patients disfigured and appearing prematurely pregnant. The kidneys continue to function normally, but eating, sleeping and even breathing can be difficult because of the size of the kidney and the pain experienced. The liver can be affected, too, and many patients are often diagnosed with PKD and liver disease. Besides the effects on the kidneys and the liver, there is a range of other complications: heart disease, bowel problems, hernias, infections and a high risk of intracranial aneurysms.

The kidneys can weigh up to 17 lb—upwards of 10% of a person’s body weight—and in one case a patient was recorded as having kidneys weighing 48 lb. An affected liver can grow more quickly than the kidneys, effectively squashing them. PKD affects people of working age and is characterised by premature mortality. Tragically, end-stage kidney failure is common at an average age of 55—within working age, as the hon. Member for Chatham and Aylesford (Tracey Crouch) mentioned.

PKD affects an estimated 12.5 million people around the world and is the fourth most common cause of kidney failure. It is more common than sickle-cell anaemia, cystic fibrosis, autonomic dystrophy and Down’s syndrome combined. We simply do not know how many people are affected by PKD in the UK. On the one hand is the answer to my parliamentary question in July. The Department of Health said that a total of 1,100 hospital admissions in 2010-11 were identified as resulting from PKD, although I was informed that that might include repeat visits by the same individuals. On the other hand, PKD Charity’s own figures suggest that the number is far higher. On the basis of the number of people requiring a kidney transplant and dialysis as a result of PKD, it estimates that as many as 60,000 to 70,000 people could have the condition in the UK.

[Jim Shannon (Strangford) (DUP)]

I congratulate the hon. Lady on bringing this matter to the Floor of the House. My nephew, Peter Shannon, was born with posterior urethral valves, which meant a kidney transplant for him. Had he not had one, he would be dead. Does she agree that we need a bigger push to get people to sign on to the organ transplant donor list in the interest of those with kidney diseases, and those with PKD specifically, who are currently being kept alive by dialysis treatment? Transplants are important. If Members have not signed up, they should do so and encourage others in their constituency to do the same.

[Mrs Moon]

I completely endorse the hon. Gentleman’s comments. It is imperative that kidneys be available for these transplant patients. It is the most generous commitment that anyone can make.

I am particularly grateful to Sandra Buckland and her husband for allowing me to quote directly from her remarks at the kidney group meeting. She bravely shared with us her experience of PKD, and I would like to share them with the House. Sandra’s powerful remarks underscore many of the points I want to make about what needs to be put in place to tackle this condition. Sandra was particularly brave in doing so, because she had also recently lost her sister, who died from PKD. She said:

“I suffer from polycystic kidney and liver disease. I am married with two sons, both with polycystic kidney disease and the youngest with polycystic kidney and liver disease. My elder son has an eight-year-old daughter with PKD and my younger son, a four-year-old son with both polycystic kidney and liver disease. My father died at age 39 with heart failure due to side effects of PKD.”

She left the group with the following question:

“Why, when I lost my own father at 17 to this dreadful disease, are lives still being lost and progress appears to be at a standstill? If more successful research could be performed, halting the genes that allow PKD to continue, it would remove the stress, heartache and trauma for many families.”

Sandra Buckland clearly demonstrates the cost of PKD to an individual and her family. It is a long-term, devastating diagnosis. At a national level the costs to the NHS are unknown, although an estimate is possible. The PKD charity believes the annual cost is £330 million. As I said in my opening remarks, PKD is currently incurable and can be managed only with dialysis and transplants, combined with monitoring, all of which are expensive. It was only in 1994 and 1996 that the two ADPKD genes were discovered. The ARPKD gene was characterised only in 2002.

Funding for research is limited. In the US, $360 million has been invested in research over the past 15 years —$45 million in 2009 alone. The House will be shocked to learn that the total investment in research in the UK and the European Union is zero. The PKD charity recently funded a small biobank of PKD kidney cells at the UCL-Royal Free, and together with the US PKD foundation, it has funded one small laboratory study in Sheffield. This funding is all reliant on donations. It is telling that in the past 12 years there has been no improvement in the life expectancy or average age of renal replacement therapy of 55 years for someone diagnosed with ADPKD.

It cannot be acceptable for PKD to remain a neglected condition in terms of research and the development of treatments. Transplants and dialysis are costly. Developing treatments would not only improve the quality of life for patients, but reduce the cost to the NHS. The PKD charity has recently begun work with the UK renal registry to develop an analysis of PKD patients on renal replacement therapy. Would the Minister consider supporting the extension of this work to include pre-dialysis patients by asking the Renal Association to develop quality standards relating to ADPKD? Would she also support changes to governance requirements that would enable the UK renal registry to collect the data, and provide the necessary funding of £500,000 for the analysis and publication of these data?

I appreciate that £500,000 may appear a large sum, but compared with the long-term savings, it is a small investment for a huge return. Funding the registry would overcome a major barrier to understanding ADPKD, support care planning and counselling, and provide cohorts for clinical studies. The information is not available at present, so there is no foundation in place on which to build a meaningful research programme.

New drug treatments are being developed, but getting access to them is not without its challenges. One PKD patient with polycystic liver disease contacted me to describe how she self-funded her involvement in a drugs trial in Italy over three years, travelling back and forth to Italy monthly for three years at her own cost. During the trial, her symptoms improved considerably. The trial has finished and her condition is rapidly deteriorating. Her local PCT refused to fund ongoing treatment. Her long-term survival is being determined by finances.

Last December the Prime Minister announced a package of support for the life science sector, which included an early access scheme for seriously ill patients with limited treatment options to receive promising new drugs in clinical trials. This accurately describes PKD patients. Will the Minister take steps to ensure, as a matter of priority, that PKD patients are included in access to drugs in clinical trials?

Last weekend a drugs trial in the Netherlands reported positive results in altering the progression of ADPKD. The drug will now be presented to the European Medicines Agency for licensing—

--- Later in debate ---

Motion made, and Question proposed, That this House do now adjourn.—(Anne Milton.)

[Mrs Moon]

The drug is not without its limitations, but it does represent progress. I ask the Minister to look at ways of supporting the trails in the UK and helping ADPKD patients to participate.

There is also a lack of clear guidance about the management of ADPKD and ARPKD patients. Guidelines should include regular MRI scans to monitor kidney volume, which is an early predictor of later kidney loss and could guide future treatment decisions. Guidelines should also address access to genetic testing, which is particularly helpful in assessing young living related donors and for atypical or early onset cases. Only two centres will conduct those tests, and in the vast majority of cases PCTs will not fund them. Will the Minister give an undertaking to support with funding, as necessary, the development of guidelines and address the gaps?

There is a need to develop access to specialist services, such as neurology and genetic counselling. One solution would be to establish specialised multi-disciplinary teams or clinics that could help patients be properly assessed, counselled and managed. Those teams or clinics would require a dedicated nephrologist with an interest in ADPKD, support from a specialist nurse and input from a clinical geneticist. Will the Minister work with the NHS to develop such a service?

I have raised many issues in a short space of time. I ask the Minister to meet me and representatives of the PKD Charity at a later date to discuss the problems they face. We cannot wait another 500 years for significant progress in this field.