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aHUS

AHUS, which is short for atypical haemolytic-uremic syndrome, is a chronic condition that affects the kidneys. While this condition can cause many different symptoms, the main one is that it creates blood clots in the vessels flowing through the kidneys. aHUS is a genetic condition that people are born with, and there’s currently no known cure for it. However, with an early diagnosis and proper treatment, it’s possible to live a fairly normal and full life with the condition.

Because of the small blood clots that aHUS causes, there isn’t enough blood flow to certain organs, primarily the kidneys. As a result, people with aHUS have impaired kidney function. If left untreated, this can lead to additional kidney problems and health concerns, including heart disease and kidney failure.

Signs & Symptoms

aHUS is dangerous because it doesn’t always result in unusual signs and symptoms. Instead, the earliest warning signs of aHUS are very similar to other kidney problems, or even a typical flu or virus. Many of the symptoms you’ll experience are because of kidney problems, but also because you aren’t getting enough blood flow throughout your body, thanks to the blood clots. Here’s what they will include.

  • Nausea
  • Diarrhoea
  • Kidney pain
  • Vomiting
  • Confusion
  • Stomach aches
  • Loss of energy
  • Muscle weakness
  • Other flu-like symptoms

However, as the disease progresses, the symptoms will get progressively worse. Additionally, you’ll also experience other symptoms of kidney failure, including elevated blood pressure, seizures, headaches, migraines, difficulty breathing, and double vision. Because of these dangerous symptoms, it’s crucial to see a doctor as soon as you think something is wrong with your kidneys. Even if it isn’t aHUS, these are abnormal symptoms that need to be addressed.

Causes & Risk Factors

aHUS is a chronic, genetic condition that people often have from childbirth. It’s caused by a genetic mutation in one or more of your genes. However, just because you have this genetic mutation doesn’t mean you’ll always have aHUS. Instead, the mutation often lies dormant until something happens that triggers it and activates it. Common trigger are:

  • Pregnancy
  • Cancer
  • Viral or Bacterial Infections
  • Drugs and Medications
  • Receiving an Organ Transplant
  • Another Illness or Disease

Additionally, there are also a number of people who have aHUS and don’t have the genetic mutation that usually causes the condition. As such, nearly half of all people with aHUS have it for unknown reasons. aHUS is one of the rarest kidney diseases nationwide, and fewer than 200 people in South Africa have the condition.

Diagnosis

Because of how rare aHUS is, it’s a tough condition to diagnose, especially on symptoms alone. Here are some of the additional tests your doctor will have to run.

  • Blood Tests – There are several blood tests your doctor will run, including a complete blood count and a test checking your protein levels. These tests will measure your red blood cell count and how much of a certain protein (ADAMTS13) you have in your blood.
  • Kidney Function Tests (eGFR) – Your doctor will also run an eGFR to determine how well your kidneys are functioning and whether or not they’re having issues.
  • Genetic Testing – A genetic test will confirm whether or not you have the genetic mutation that usually causes aHUS.

Treatment & Management

Unfortunately, there’s no exact cure for aHUS. However, there are a several treatments that can help you live with the condition and have a normal life. Medications and antibodies are the two main ways that your doctor will treat aHUS. These medications will remove unwanted proteins and antigens from your blood and increase your red blood cell count.

Your doctor may also perform blood and plasma transfusions if your red blood cell count is too low.

 
 
 

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