POLYCYSTIC KIDNEY DISEASE by Joana Teixidor

History:

Polycystic kidney disease was discovered by Richard Bright, a British medical researcher and physician. He is widely known for his research research of kidney diseases and polycystic kidney disease was one of them. He was born on september 28th, 1789 in Bristol, England. Richard Bright discovered the cause and symptoms of polycystic kidney disease. This kidney disease is also known as Bright's disease, which was named after him. For his contribution in the field of medical science, he is widely regarder as the father of nephrology. He died of a heart disease, on December 16th, 1858 in London.

 

What is polycystic kidney disease (PKD)?

Polycystic kidney disease (also called PKD) causes numerous cysts to grow in the kidneys. These cysts are filled with fluid. If too many cysts grow or if they get too big, the kidneys can become damaged. PKD cysts can slowly replace much of the kidneys, reducing kidney function and leading to kidney failure.





What other organs besides the kidney are affected by PKD?

PKD can affect other organs besides the kidney. People with PKD may have cysts in their liver, pancreas, spleen, ovaries, and large bowel. Cysts in these organs usually do not cause serious problems, but can in some people. PKD can also affect the brain or heart. If PKD affects the brain, it can cause an aneurysm  (a bulging blood vessel that can burst, resulting in a stroke or even death). If PKD affects the heart, the valves can become floppy, resulting in a heart murmur in some patients.

Causes:


PKD is generally inherited. Less commonly, it develops in people who have other serious kidney problems. There are three types of PKD.

Autosomal dominant PKD

Autosomal dominant (ADPKD), are 90 percent of cases. Someone who has a parent with PKD has a 50 percent chance of developing this condition. Symptoms usually develop later in life, between the ages of 30 and 40. However, some people begin to experience symptoms in childhood.

Autosomal recessive PKD

Autosomal recessive PKD (ARPKD) is less common than ADPKD. It is also inherited, but both parents must carry the gene for the disease. People who are carriers of ARPKD will not have symptoms if they have only one gene. If they inherit two genes, one from each parent, they will have ARPKD.
There are four types of ARPKD:
  • perinatal form is present at birth
  • neonatal form occurs within the first month of life
  • infantile form occurs when the child is 3 to 12 months old
  • juvenile form occurs after the child is 1 year old

Acquired cystic kidney disease

Acquired cystic kidney disease (ACKD) is not inherited and it usually occurs later in life. It usually develops in people who already have other kidney problems.



What are the symptoms of polycystic kidney disease?

Polycystic kidney disease symptoms can include:
  • High blood pressure
  • Back or side pain
  • Headache
  • A feeling of fullness in your abdomen
  • Increased size of your abdomen due to enlarged kidneys
  • Blood in your urine
  • Kidney stones
  • Kidney failure
  • Urinary tract or kidney infection


How is PKD diagnosed?

Polycystic kidney disease can be ascertained via a CT scan of abdomen, as well as, an MRI and ultrasound of the same area. A physical exam/test can reveal enlarged liver, heart murmurs and elevated blood pressure. Also your doctor will review your family history. They may initially order a complete blood count to look for anemia or signs of infection and a urinalysis to look for blood, bacteria, or protein in your urine.



How is PKD treated?

At present, there is no cure for PKD. A lot of research is being done. In the meantime, many supportive treatments can be done to control symptoms, help slow the growth of cysts, and help prevent or slow down the loss of kidney function in people with PKD.  These include:
  • careful control of blood pressure
  • prompt treatment with antibiotics of a bladder or kidney infection
  • lots of fluid when blood in the urine is first noted
  • medication to control pain (talk to your doctor about which over-the-counter medicines are safe to take if you have kidney disease)
  • a healthy lifestyle with regard to smoking cessation, exercise, weight control and reduced salt intake
  • drinking lots of plain water throughout the day
  • avoiding caffeine in all beverages


Future:

Polycystic kidney disease (PKD) is one of the most common life-threatening genetic diseases. Jared J. Grantham, M.D., has done more than any other individual to promote PKD research around the world. However, despite decades of investigation there is still no approved therapy for PKD in the United States. In May 2014, the University of Kansas Medical Center hosted a symposium in Kansas City honoring the occasion of Dr. Grantham's retirement and invited all the awardees of the Lillian Jean Kaplan International Prize for Advancement in the Understanding of Polycystic Kidney Disease to participate in a forward-thinking and interactive forum focused on future directions and innovations in PKD research. 




Webpage:

-https://www.mayoclinic.org/diseases-conditions/polycystic-kidney-disease/symptoms-causes/syc-20352820
-https://en.wikipedia.org/wiki/Polycystic_kidney_disease
-https://www.kidney.org/atoz/content/polycystic
-https://www.healthline.com/health/polycystic-kidney-disease
-https://prezi.com/_uggpze1e4x1/polycystic-kidney-disease/
-https://www.researchgate.net/publication/276437730_The_Future_of_Polycystic_Kidney_Disease_Research--As_Seen_By_the_12_Kaplan_Awardees

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