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> We All Can Help Find a Treatment for Autosomal Dominant Polycystic Kidney Disease (ADPKD)

8/7/2013

1 to 2 out of 1,000 people are affected by ADPKD, a relatively unknown genetic kidney disease, which usually causes kidney failure and for which there is currently no cure.

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most frequent genetic kidney disease and affects 1/800-1000 people. Approximately 6-10% of all patients undergoing dialysis are affected by this disease.

 

Important progress has been made over the last years to better understand different aspects of ADPKD; however, ongoing research is required, as the final objective – finding a specific treatment – has not been reached.

 

 

What is ADPKD?


ADPKD is a disease characterized by the development and progressive growth of multiple cysts in both kidneys. The cysts grow in number and size throughout a patient’s life and can affect one’s kidney function, causing the need for dialysis or kidney transplantation.

 

Other organs can be affected, mainly the liver; however, as opposed to the kidney function, the liver function does not become compromised. Furthermore, this disease also presents higher incidence of other issues, such as intracranial aneurisms or heart valve alterations.

 

 

Disease Transmission


ADPKD is an inherited genetic disease,caused by gene mutationpassed on by 1 parent. The probability of transmitting the disease is 50% and affects both genders equally. However, in rare situations, no parent of a person with ADPKD is affected, i.e. the patient represents the first mutation within the family; the latter is the case in approximately 5-10% of ADPKD patients and these patients likewise have a 50% probability of passing on the disease to their children. 85% of ADPKD patients show an alteration of the PKD1 gene; the remaining 15% of affected patients have an alteration of the PKD2 gene.

 

 

Symptoms


An affected person may be asymptomatic during a long period of time and the diagnosis can be casual or as a result of family screening. Several years might pass before the cysts have grown sufficiently to be seen on an ultrasound scan; because of the latter, a normal echography before the age of 20 years does not preclude the possibility of suffering ADPKD.

 

As mentioned before, the presence of cysts can lead to kidney failure which implies that the disease might be diagnosed during a regular blood test. Approximately 50% of ADPKD patient receive dialysis by age 60; the remaining patient population starts dialysis at a later age or might never need renal replacement treatment. The average age for patients requiring dialysis with PKD1 and PKD2 is 56 and 74 years, respectively. Usually other symptoms lead to a diagnosis before the kidney function fails; one of the most frequent and early symptoms is high blood pressure, with other symptoms including back or abdominal pain, blood in the urine, stones in the urinary tract or repetitive urinary infections.

 

 

Incidence during Childhood


ADPKD can be diagnosed during childhood, generally speaking above the age of 10 years; however, early diagnosis does not imply that kidney failure will be reached at an earlier stage.

 

Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a more severe and completely different disease which is usually diagnosed during pregnancy or shortly after birth; patients show increased kidney size, severe high blood pressure and evolution towards kidney failure in childhood or early adulthood.

 

Genetic mutation, transmission, evolution and therapy of the “Recessive” form of polycystic kidney disease differ from the “Dominant” form.

 

 

Control and Treatment


Ongoing follow-up by a nephrologist is essential (clinical examination, ultrasound, blood test). At the current time there is no treatment to cure or slow down the progression of ADPKD. However, treating high blood pressure is essential as the disease progresses faster towards kidney failure in patients with high blood pressure who are not controlled.

 

Some research has concluded that certain drugs prescribed to treat high blood pressure might have a positive effect on the progression of the disease, but this has not been clearly demonstrated yet. Furthermore, it is recommended to follow a balanced diet, drink sufficient liquids, avoid caffeine, not smoke, and participate in regular exercise (avoiding contact sports).

 

Certain drugs which potentially have a toxic kidney effect should be avoided. In case of advanced kidney disease the associated metabolic alterations must be treated. Puncturing of a cyst (or extraction of a kidney if the patient has started dialysis) might be indicated in the case of persistent and severe back pain not responding to medical treatment, considerable kidney size causing digestive or repetitive episodes of infection or blood in the urine. If the issues are caused by a liver cyst, puncturing of the latter likewise might be indicated.

 

Nowadays, dialysis and transplantation techniques have evolved to such a degree that patients who require such treatment enjoy a much better quality of life than in the past. The disease never reappears after transplantation.

 

The disease also can cause intracraneal aneurisms which can cause headaches or neurological symptoms requiring additional diagnostic tests if such symptoms are present. The rupture of such aneurisms represents a neuro-surgical emergency.

 

 

How does it benefit me to know that I have ADPKD if there is no cure?


The control of some factors such as high blood pressure might slow down the progression of ADPKD. In the case of progressing to chronic kidney disease, the first phases can be asymptomatic and it will be important to correct the associated metabolic alterations. Furthermore, knowledge of being affected by the disease will allow exploring whether one’s children have inherited the disease.

 

 

We All Can Help Accelerate Treatment Finding for ADPKD

 

The fastest and least costly way to find a drug or combination of drugs to slow down or stop progression of ADPKD consists in conducting repurposing studies of drugs which have been approved to treat other diseases; numerous molecules are being studied at this time, but definitive treatment could be discovered more quickly with additional funding to begin new research studies.

 

 

For more information about ADPKD and to make a donation:

 

Spanish:
• Information: www.airg-e.org
• Donations: info@airg-e.org

 

English:
• Information: www.pkdcure.org or www.pkdinternational.org/
• Donations: www.pkdcure.org/donate or www.pkdinternational.org/contribute/

 

You also can help find treatment for ADPKD if your company publishes this article on its corporate web and/or newsletter; to do so please contact: carstenblecker@hotmail.com.

 

 

Source: Article from Dr Roser Torra


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