Polycystic Kidney Disease: Silent Killer
Polycystic Kidney Disease Gross Pathology
Autosomal Dominant Polycystic Kidney Disease and A Family in Crisis
Autosomal Dominant Polycystic Kidney Disease
There are multiple types of polycystic kidney disease, but autosomal dominant PKD is one of the most common. This is a genetic disease, and if you are the child of one parent who carries the gene, you have a 50% chance of acquiring the disease yourself. If you happen to be unlucky enough to be the progeny of two parents who who carry the gene, your chances of being afflicted with the disease are 100%.
The first time PKD hit our family (that we are aware of) was around 1916 or 1917 when my great-grandmother died at the age of 33. Back then, doctors didn't know how to diagnose the disease, and I don't know much about the circumstances other than she must have been taken severely ill, so much so, that my grandfather was asked leave his job in Philadelphia and come back home.
At the time, even when an autopsy was performed, there was no disease that was called polycystic kidney disease. It was referred to back then as bilateral hydronephrosis. There is no cure fo PKD, even now, and when the disease reaches advanced stages renal failure nearly always ensues. The only fix at this stage of the game is dialysis or kidney transplant, neither of which was an option in the early 1900s.
The Second Hit From PKD
The Second Known Event of PKD in My Family
I don't know if my grandfather ever really know what caused his mother's death at such an early age. Even if he did, there wouldn't have been much he would have been able to do about his own health at that point in time, but in the late 1940s my grandfather started to become ill also. He was only 50 when he passed away, and it was before I was born, so I never even got to meet him, but my grandmother told many stories about their lives together during the course of her lifetime.
It was 1948, and I don't know if my grandfather got sick in Warren County, New Jersey or if he was transferred to Warren Hospital from Monroe County General Hospital in East Stroudsburg, but he died in Warren Hospital in Phillipsburg, New Jersey that year. His death certificate lists the cause of death as uremia and bilateral hydronephrosis. Still little was known about PKD, not even that it was a genetic disease which could be passed down through the generations of a family.
There are usually no symptoms of PKD until at least 30 years old, and sometimes there are no symptoms until much later in life. The disease doesn't affect everyone the same way, and some people may never have any symptoms. When the symptoms start, they are progressive, beginning with nausea, fever and progressing eventually to coma and death, if there is no intermediate treatment.
CT Scan of Autosomal Dominant Polycystic Kidneys
The Third Hit From PKD in My Family
PKD Strikes My Family the Third Time
I remember well, it was Christmas Day, and my Uncle Martin was obviously not feeling good. He kept getting up from the dinner table and going to the bathroom, and he was not his normal jolly, pleasant self. He was sweating profusely, and we knew something was wrong, but we never made the connection between my great-grandmother and my grandfather. By the time the connection was made, it was too late. He was dead at 39 years old, less than a month after Christmas.
My grandmother was devestated. Children aren't supposed to die before their parents go. I imagine that there is nothing in life as heart-wrenching as losing a child, no matter how old that child might happen to be.
The Good That Came From the Bad
Although it was a very sad time for my family, finally there was a diagonsis about what disease was killing off our family members at such young ages. The autopsy report said "Polycystic Kidney Disease." By now, the doctors knew that PKD was a genetic disease and that everyone else in my family was at risk. They made the decision that everyone in our family should be tested for the disease, by a test called and IVP (Intra-Venous Pyelogram), which is a test where they pump iodine dye through the kidneys and take X-Rays. More recently ultra-sound tests are able to supplement the IVP test for a more definitive diagonisis.
The Bad That Came From the Good
I would like to tell you that the IVP revealed that no one else in my family was afflicted with this disease; however, such is not the case. the IVP tests determined that three other people in my family were also afflicted with the disease. Fortunately, for me, I was not one of the three. Unfortunately for my family, another uncle and two of my cousins (his children) were determined to be afflicted by this disease.
- There is no cure for polycystic kidney disease
- Autosomal dominant PKD is the most common form of polycystic kidney disease.
- The only treatments when renal failure begins are dialysis or kidney transplant.
- You can't catch PKD from someone who has it.
- PKD is a genetic disease which is inherited from a parent who has the PKD gene.
- If you have one parent who has PKD, you have a 50% chance of having the disease.
- Symptoms of ADPKD usually don't begin until 30 years old at the earliest, and sometimes not until as late as 50 or 60 years old.
- Some people who have PKD will never have symptoms.
- Dialysis is a temporary stop-gap treatment which can cause other medical problems.
More Death on the Horizon
PKD Rears It's Ugly Head for the Fourth Time
With the advent of medical technology, we knew that my other uncle was also afflicted with PKD, and when he was sufficiently ill to require dialysis, he was on the kidney transplant waiting list. When the time came that a kidney was available, they required that a transplant patient be otherwise healthy, and an X-Ray showed a spot on one of his lungs, which ultimately resulted in the loss of the opportunity for that kidney transplant.
He continued on dialysis for several years, but dialysis takes it's toll on the body also. He could see the veins in his arms becoming progressivley more knarled over the course of time, and eventually, he required heart by-pass surgery. Dialysis plays havoc on the veins and arteries in the human body over time. In the grand sheme of things, dialysis is only good for a short-term, stopgap measure, and over the long haul, it can keep a person alive, but at the expense of causing the circulatory system to progressivley deteriorate.
Again, it was during the Christmas holidays that PKD was bringing the Grim Reaper to my family. My uncle was hospitalized on Christmas Eve, and most of the complications that were occurring were now in his intestinal tract. Several feet of his colon were removed to try to save him, but it ultimately, there was nothing they could do to prevent the advancing complications from taking his life. Living on a respirator is not living, and the decision was made to not attempt to keep my uncle alive by artificial means. On January 25th 1998 my second uncle passes away due to complications caused by polycystic kidney disease. My grandmother was at home recovering from a stroke, and again was given the devestating news of the death of her second and last son. She was crushed.
Types of Polycystic Kidney Disease
Typical Age at Which Symptoms Present
Autosomal Dominant PKD-1
High Blood Pressure, Enlarged Kidneys, Liver Damage, Pancreas Damage, Heart Problems, Brain Damage
30 to 60 Years Old,But Can Be Earlier or No Symptoms at All
Autosomal Dominant PKD-2
High Blood Pressure, Enlarged Kidneys, Liver Damage, Pancreas Damage, Heart Problems, Brain Damage
30 to 60 Years Old, But Can Be Earlier or No Symptoms at All
Autosomal Dominant PKD-3
Not Proven to Really Exist at This Date
PKD-3 Is Not Scientifically or Medically Proven at This Time
50% of Neonates Die Before Birth From Pulmonary Hypoplasia. Those Who Survive, Experience Abdominal Discomfort, Urinary Tract Infections, Hematuria, Elevated Renal Pain, and Renal Insufficiency
50% Die Before Birth, Those That Survive are Usually in End Stage Renal Failure by Age 15
Polycystic Kidney Disease Patient Education Video
Autosomal Dominant Polycystic Kidney Disease: The Most Common Inherited Genetic Disease on Earth
Autosomal Dominant PKD is the Most Common Inherited Genetic Disease on Earth
ADPKD afflicts between 1:400 to 1:1000 people, and it is estimated thata 50% of those patients on dialysis who are in end stage renal failure have ADPKD. There are medical treatments that can help relieve some of the symptoms of the disease, and some complications that are common can be prevented with aggressive medical intervention. But, I repeat, there is NO CURE for this disease and much medical research is needed if there will ever be the hope to find a cure.
I urge you, if you know someone who is suffering from this disease, ask them if they would be willing to donate their body to science to further research this disease when they have passed on. Also, if you have a vehicle that has died or that you want to get rid of for other reasons, consider donating it to the National Kidney Foundation. They use the money that they can get for your vehicle for kidney disease research. There may not be a cure for this disease in my lifetime, but the more people who can contribute, the quicker a cure will come. I have already donated two cars to the National Kidney Foundation, and you can take this as a charitable donation on your income taxes. You may even make out better than you would if you traded your vehicle in. No one can guarantee this, but your professional tax advisor can give you guidance.
Autosomal Recessive Polycystic Kidneys
Autosomal Recessive PKD
- 'Autosomal recessive PKD is caused by a mutation in the autosomal recessive PKD gene, called PKHD1 that often results in kidney failurebefore adulthood.
- Autosomal recessive PKD symptoms develop in children and include high blood pressure, UTI's, urinary frequency, stunted growth, low blood counts, and varicose veins.
- Autosomal recessive PKD is often diagnosed by ultrasound in the fetus or newborn.
- Autosomal recessive PKD has no cure; treatment is done to reduce the symptoms (blood pressure reduction, antibiotics and even dialysis or transplants.
- PKD is a genetic disease; genetic diseases occurs when one or both parents pass abnormal genes to a child at conception.
- Research at the NIH and other institutions may provide better treatments in the future" Source: .http://www.medicinenet.com/polycystic_kidney_disease/article.htm#polycystic_kidney_disease_facts
Summary: Polycystic Kidney Disease
PKD: Summing it All Up
Autosomal dominant polycystic kidney disease is the most common inherited genetic disease on earth. There is no cure, and once a patient is in end stage renal failure, the only options are dialysis or kidney transplant. Dialysis presents further health risks the longer someone requires it. Kidney transplants, of course, have risks too, but the potential benefits of a successful kidney transplant far outweigh the risks of end stage renal failure.
If you are aware of anyone in your family who has died at an early age due to a kidney disorder, it might be wise to have yourself checked for this disease. There is much research still needed to find a cure for this insidious killer, but you can help by supporting the National Kidney Foundation with your donated vehicles or your donated dollars.
Resources Consulted While Researching This Article
- Bilateral hydronephrosis: MedlinePlus Medical Encyclopedia
- Polycystic Kidney Disease, Autosomal Recessive - GeneReviews™ - NCBI Bookshelf
- Polycystic Kidney Disease (PKD) Causes, Symptoms, Signs, Diagnosis, and Treatment - MedicineNet
Read about polycystic kidney disease (PKD). Symptoms include headaches, urinary tract infections, blood in the urine, liver and pancreatic cysts, abnormal heart valves, high blood pressure, kidney stones, aneurysms, and diverticulosis.
- The National Kidney Foundation: A to Z Health Guide
- End stage renal disease - Wikipedia, the free encyclopedia
- Autosomal dominant polycystic kidney - Wikipedia, the free encyclopedia
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