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Andersen Tawil Syndrome

Andersen Tawil syndrome or ATS is a rare disease characterized by three distinct features that include: periodic paralysis or episodes of muscle weakness, cardiac arrhythmia and distinct facial and skeletal features. However all the three features may not be present in a single patient. Most ATS cases are caused by a mutation in the KCNJ2 gene; other cases result from unknown causes. KCNJ2 gene forms a channel that is responsible for transporting potassium ions into muscle cells. The movement of these ions is essential for maintaining the normal function of muscles. KCNJ2 gene mutations disrupt the structure of the potassium ions and leads to periodic paralysis and irregular heart rhythm.


Periodic paralysis: Anderson Tawil syndrome patients may experience episodes of flaccid paralysis. The lower and the upper limbs normally get affected and the paralysis may remain for short duration or continue for days. The severity and frequency varies from person to person and from episode to episode.

Heart arrhythmia: Anderson Tawil syndrome patients typically present with long QT interval, a disorder of the heart's electrical activity. It can cause sudden, uncontrollable, dangerous arrhythmia in response to exercise or stress.

Distinct Facial or skeletal features: Patients with ATS commonly develop physical abnormalities such as a small lower jaw, dental abnormalities, widely spaced eyes, short stature and curvature of the spine.


Diagnosis and treatment

Examining the clinical features, serum test to assess potassium levels, electrocardiogram to test the heart's electric activity and molecular genetic testing together help in establishing the diagnosis of Anderson Tawil syndrome.

There are no standard protocols laid out for treating ATS because of the rarity of the condition. Treatment of the Anderson Tawil syndrome depends upon the symptoms of the patient. If the patient is suffering from potassium sensitive periodic paralysis, potassium supplements are prescribed to rectify the levels.

However periodic paralysis caused by higher potassium levels resolve on their own in a short while. Of late, drugs known as carbonic anhydrase inhibitors are being used successfully to treat periodic paralysis in individuals with Andersen-Tawil syndrome. Cardiac arrhythmia is normally treated with beta adrenergic blockers and more complicated cases might need pacemakers and implantable defibrillator to prevent sudden cardiac deaths.


Renal Failure

Acute renal failure happens when the kidneys suddenly lose their ability to remove toxins from the urine. Typically the cause for a sudden kidney failure are acute tubular necrosis (ATN) and autoimmune kidney diseases. Other causes leading to kidney damage are acute pyelonephritis and septicemia. The symptoms indicating acute renal failure are changes in urination, lowered sensation in extremities and metallic taste in the mouth. Typical symptoms include nausea, blood in stools, swelling of feet and ankles, swelling of ankle or leg, fluid retention and fatigue. A person might also notice high blood pressure, nausea and reduced appetite. Change in mental alertness might be noticed.


A nephrologist will need to examine the patient and suggest further course of action. BUN test and blood tests for creatinine and potassium are done. Kidney ultrasound or MRI might be done to look for any stones, tumors or blockage. A person suffering acute kidney failure is hospitalized and the amount of liquid ingested in monitored. The diet has to be tailored to reduce proteins and salt. Diuretics might be prescribed for reducing fluid retention. In some cases, dialysis is done; especially when the potassium levels are abnormally high. The balance of body electrolytes is maintained.


Acute kidney failure is more common with older adults and those suffering kidney or liver disease, heart failure or diabetes. An abdominal surgery might also make you more susceptible to kidney failure. Severe dehydration, blood pressure medications and overuse of NSAIDs are other possible causes for renal failure. This condition can be life threatening if not treated in time. It can lead to chronic kidney failure or damage to the nervous system and the heart. The patient can develop very high blood pressure or loss of blood in the intestines leading to last-stage kidney disease. Treatment for kidney disease include antibiotics and iodine-based medications.


Hypokalemia

Low potassium level in the blood is referred to as hypokalemia. Potassium is an electrolyte that is essential to ensure the proper functioning of muscle and nerve cells, in particular the heart muscle cells. Potassium is a vital mineral in the body as it helps the muscles contract when required. Almost 98% of the potassium found in our body is present within the cells. The small levels present outside have a major influence in the functioning of the heart, muscles and nerves.


Normal potassium level in the blood is 3.6 to 5.2 millimoles per liter. Anything less than 2.5 millimoles per liter could indicate low level potassium in the blood. The condition may arise from reduced intake of potassium or from increased loss of potassium from the body.


Blood tests can confirm this condition in a person. Oral supplements or in severe cases, intravenous medication helps. In many cases oral supplements would do the needful; however this could lower the thyroid hormone levels and raise the potassium levels thus leading to paralysis of the body. A few patients may also experience irregular heartbeat which may turn fatal. The condition is more common in men and in women and occurs more often in elderly people.

Consuming a potassium rich diet by including food items like banana, carrots, bran, avocados, oranges, milk, spinach, wheat germ, peas and beans may help prevent the condition. Common causes include:


  • Chronic kidney failure, as kidney plays a vital role in removing excess potassium into the urine and maintaining proper balance of this mineral in the body.
  • Eating disorders like bulimia
  • Magnesium deficiency
  • Sweating excessively
  • Diarrhea
  • Excessive use of laxatives
  • Vomiting
  • Alcoholism
  • Use of insulin

Hypokalemia symptoms include nausea, abdominal pain, cramps, dehydration, frequent urination, palpitations and confusion.

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Collection of Pages - Last revised Date: June 20, 2019