Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD)- An Overview for Patients

So many people strive to live a healthy life, focusing on diet, exercise, and creating overall healthy habits that will contribute to living long and happy lives. We have all been told that this is the way to ensure that we can be healthy and strong; however, Sometimes things that contribute to poor health are completely out of our control. In fact, there is one major factor to our health that is entirely out of our control and that we have no way to fix directly when things go awry: our deoxyribonucleic acid (DNA).

Genetics are a major player in our health, as the DNA in our cells is what serves as an instructional manual for our body, telling it how to behave and directly affecting how we function. So what happens when our DNA functions improperly? What do we do when we have a genetic mutation? What can we do when genetic testing tells us that something is wrong?

Usually a genetic diagnosis doesn’t appear out of nowhere. Often there are symptoms that arise and can tell you that there is something wrong. For example, if a patient had autosomal dominant tubulointerstitial kidney disease (ADTKD, a rare condition causing progressive

chronic kidney disease and end stage renal disease [ESRD]), also known as medullary cystic kidney disease, patients might see an increase in going to the bathroom, alterations in blood pressure, weight loss, fatigue, anemia and other symptoms. In fact, for many people initially they have no symptoms. 

A potential lack of symptoms early in diseases is part of why regular wellness checkups can be so important, and even more important is maintaining an overall awareness of your personal health. If you go in for regular checkups and testing with your primary care provider they may be able to detect alterations in your health. For example, returning to our example of an individual with ADTKD, the doctor may notice that you have an elevated creatinine level, indicating that your kidneys are not properly functioning. This would prompt them to have you undergo further testing or a referral that could help to determine what is causing this alteration in your kidney function. If you remain unaware of the condition, then it is possible that your disease will go unnoticed until you develop symptoms of kidney failure, such as edema (fluid retaining) and nausea. 

As providers treat your symptoms, they may know that something is wrong, but be unable to pinpoint exactly what the cause is. If you are lucky enough to have a savvy provider who is familiar with conditions like ADTKD, they will order genetic testing in order to confirm what they think your diagnosis may be. A genetic diagnosis is incredibly useful in determining what therapeutic treatments would be useful, and which will not be. There is also power in knowing exactly what is causing your condition. 

When you are armed with knowledge, you can seek treatments that can help with the symptoms of your condition as well and that will help in improving your overall quality of life. In the case of ADTKD, you can treat gout, anemia and other symptoms that may arise. If you have had genetic testing you can also seek out participation in a clinical trial or consultation with a leading expert on the condition you have been diagnosed with. You can also find ways to change your lifestyle in order to best suit the individual condition you have.

If you have a genetic diagnosis, you should also consider informing your family members about your condition. When there is a genetic cause in play, there is a much higher chance that relatives would also suffer from the same condition. If you are still young, You can also consider whether you should utilize in vitro fertilization in order to do pre-implant genetic testing and ensure that your children do not also inherit the same condition and suffer from the same disease.