Another disease with no simple fix

It seemed as if everything could be fixed when we were kids, but with age comes challenges that can’t be fixed, difficulties that must be treated and tolerated as cheerfully as possible. And often these conditions have been waiting to jump out at us – genetic conditions that were always going to surface at some point.

In my family, my sister went first, and early, with thyroid problems; me next with melanoma, and now the older brother who alerted us recently to the news he has been diagnosed with polycystic kidney disease. He said his doctor asked if our parents had it? His siblings? Hmmm, not that we know of re the parents and we’ll check regarding ourselves. And sorry kids – the list of possibilities is growing.

But what is polycystic kidney disease?
Polycystic kidney disease – or PKD – is actually a group of chronic kidney diseases in which thousands of cysts (fluid-filled sacs) grow in the kidneys. The images are not pretty. According to kidney.org.au, it is the most common inherited kidney disease and is a common cause of Chronic Kidney Disease (CKD).

If you have PKD, both of your kidneys will be affected but one kidney may develop the cysts earlier than the other. The cysts gradually grow, which makes your kidneys larger and reduces the volume of healthy kidney tissue. This makes it harder for your kidneys to work properly.

Some people also develop high blood pressure and end stage kidney disease as a result of PKD.

PKD affects males and females in equal numbers, and the cysts can appear at any age, but chronic kidney disease in general has few specific warning signs. As a result, it is not uncommon for people to lose up to 90 per cent of their kidney function before developing symptoms.

According to kidney.org.au, about 50 per cent of people over the age of 50 develop simple cysts. These are not inherited and do not usually require treatment.

Different types of PKD
PKD is an inherited disease, which means it is passed from parents to their children. However not all people with PKD will have a family history of the disease.

There are two different types of PKD:

* Autosomal Dominant PKD (ADPKD), which is the most common form of PKD. People with ADPKD develop multiple fluid-filled cysts in their kidneys, liver, pancreas and other organs. It is inherited and there is one in two chance of passing the faulty gene onto your children. This affects both males and females equally and sometimes leads to kidney failure later in life.

Autosomal Recessive PKD (ARPKD), which is a much less common form of PKD and is typically a childhood disease generally diagnosed soon after birth.

Telltale signs of reduced kidney function include:

  • high blood pressure
  • changes in the amount and number of times urine is passed
  • changes in the appearance of your urine (for example, frothy or foaming urine)
  • blood in your urine
  • puffiness in your legs, ankles or around your eyes
  • pain in your kidney area
  • tiredness
  • loss of appetite
  • difficulty sleeping
  • headaches
  • lack of concentration
  • itching
  • shortness of breath
  • nausea and vomiting
  • bad breath and a metallic taste in your mouth
  • muscle cramps
  • pins and needles in your fingers or toes.

These symptoms are very general and may be caused by other illnesses. However, if they are related to kidney disease, they may gradually worsen as kidney function declines.

Do you have any inherited conditions? Has that knowledge allowed children to be extra vigilant?

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Disclaimer: This article contains general information about health issues and is not advice. For health advice, consult your medical practitioner.

Written by Janelle Ward

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