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Description of Disease : An inherited disorder in which clusters of cysts develop in the kidneys.

Common
More than 1 million cases per year (India)
Treatment can help but this condition can't be cured.

Source

My Question : What makes PKD so difficult to diagnose and cure the patient later even promising medicines fail at last stage?
Even, if a child having kidney cysts suffering from ADPKD herited from his parents at very early age nothing can be done to help him.

Cutting sodium(recommended by doctors as treatment) in diet can't be a permenant solution possible for forever.
In 21st Century, such disease should have eliminated a long ago, then why researchers aren't still up with something, that help reducing the death toll(Kidney Failure) due to PKD?

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  • The search engine used is crazy and results differ widely for different users from different parts of the world. Your link does not provide me with what you claim as source. This does not criticise you or your post but the engine used & its shenanigans. You may want to update the cited part? Commented Dec 8, 2017 at 14:47
  • @LangLangC I have updated link provided by Google and not included URL this time, please see reference.
    – Zahid Khan
    Commented Dec 9, 2017 at 4:12

1 Answer 1

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Polycystic Kidney Disease (PKD) is caused by mutation in genes namely PKD1, PKD2, and PKHD1. In this disease cysts are formed in kidneys. The growth of cysts can result in kidney failure. Cysts may also spread in other organs,such as livee, blood vessels in the brain and heart. This disease is classified into two types: Autosomal dominant PKD (ADPKD) and Autosomal recessive PKD (ARPKD). ADKPD is the most common type of inherited kidney disease and symptoms may appear later in life. Autosomal recessive PKD (ARPKD) is a rare genetic condition. Symptoms of this disease start before child's birth and causes life-threatening problems in infants.

ADPKD is not difficult to diagnose, if one has family history of this disorder. In case of patients who don't have family history of ADPKD, it is difficult to diagnose. This can be diagnosed with ultrasound or genetic testing.

As it is disease caused due to genetic mutation, it can't be cured or prevented. But yes, early detection and treatment can prevent mortality and minimize morbidity. Prenatal screening and genetic counselling can reduce the incidence of inherited disorders. And by making some lifestyle changes one can control this disease.

And, new therapeutic interventions using gene therapy mainly CRISPR will definitely cure this disease permanently.

Reference:

https://www.kidneyfund.org/kidney-disease/other-kidney-conditions/polycystic-kidney-disease.html

https://ghr.nlm.nih.gov/condition/polycystic-kidney-disease#:~:text=Inheritance%20Pattern,mutation%20from%20one%20affected%20parent.

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