Alport Syndrome

What is Alport Syndrome?

Alport syndrome refers to a kind of heterogeneous and inherited disorders that are connected with the basement membranes of kidneys. The syndrome also affects the eyes and cochlea. Statistically, Alport syndrome affects one in every fifty thousand children. The distinguishing features are hematuria, proteinuria, hearing loss, end-stage kidney disease, glomerulonephritis, and problems with eyesight.


The three classifications of Alport syndrome are: autosomal recessive Alport syndrome (ARAS), X-linked Alport syndrome (XLAS), and autosomal dominant Alport syndrome (ADAS)

Symptoms

During the initial stages, it is difficult to find out the existence of this condition. This is because the symptoms show up only when the aorta becomes large or when it bursts. Although, there is no telltale signal that an abdominal aortic aneurysm might give you, the symptoms generally are:

  • Shortness of breath
  • Coughing
  • Chest or back pain
  • Difficulty in breathing and swallowing
  • Throbbing sensation near the navel
  • Deep pain on the side of the abdomen
  • Sick feeling in the stomach or vomiting, sweating and dizziness if aneurysm ruptures

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Causes

Although, cardiologists do not know for certain what causes abdominal aortic aneurysm, some of the most probable causes include:

  • Genetic defects
  • Infection
  • Plaque buildup in the arteries (Atherosclerosis)
  • Sudden traumatic injury

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Risks

The main risk factors are:

  • Age over 65 years
  • Smoking
  • High blood pressure
  • Plaque buildup in the arteries (Atherosclerosis)
  • Men are more susceptible to this condition
  • Family history in first-degree relatives

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Prevention

To prevent the occurrence of Aortic Aneurysm, these are certain things one should take care of:

  • Focus on your heart health. Live a healthy lifestyle
  • Avoid smoking
  • Control high blood pressure and cholesterol

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How is it diagnosed?

At Medanta, the following technologies are used to find the existence of an aneurysm:

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How is it treated?

At Medanta, our cardiologists may employ several methods to treat aortic aneurysm, which may vary on a case-to-case basis:

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  • Medical Therapy

    Meant for either small aneurysms or frail patients, this method deals with the control of hypertension within tight parameters. This will control the rate of expansion of the aneurysm. Medical therapy includes:
    -Blood pressure control
    -Cessation of smoking
    -Use of statins
    -Occasional use of beta blockers
    -Ultrasound studies at regular intervals of time

  • Surgery

    Under normal circumstances, it is advisable that a rapidly expanding aneurysm be operated at the earliest. If the aneurysm expands fast, it has greater possibilities of rupture. If the process is slow, your cardiologist at Medanta may suggest that a routine diagnostic test like a CT scan or an ultrasound imaging be carried out. As far as abdominal aneurysms are concerned, surgeries are recommended for diameter of around 5.5 cm.

  • Open Surgery

    Typically, open surgery involves the insertion of a synthetic graft when the dilated segment of the aorta is exposed. Once the graft is sewn in both the directions, the aneurysmal sac is closed around the graft. Cardiac-surgeons at Medanta are well versed with open heart surgeries

  • Endovascular aneurysm repair

     This kind of treatment is an alternative to open-heart surgery, but in a minimally invasive way. In endovascular aneurysm repair method, your surgeon makes small incisions at the top of each aorta, to place an endovascular stent

When to contact a doctor?

You should consult a doctor immediately if there is a sudden, extreme drop in blood pressure, or the person passed out or feels very dizzy or weak. The doctor will immediately start cardiopulmonary resuscitation (CPR), and he will also train you on how to do CPR. Other sign that should raise alarm is chest pain that you've never experienced before.

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