Introduction

Pompe diseaseIt is a rare and serious genetic disease that can be found in children or adults. Although the age of the attack is not the same as the severity of the symptoms, most patients develop progressive muscle weakness and difficulty breathing. Moreover, babies with this disease develop heart problems due to weakened heart muscles.

The name for Pompe disease is derived from the Dutch physician JC Pompe (pom-PAY in the United States, POM-puh in Europe), who was the first physician to describe a baby with this disease in 1932.

Pompe disease is both a metabolic muscle disease and a lysosomal storage disease (LSD).

Pompe's disease, like more than 40 other muscle diseases (such as muscle dystrophy), can cause muscle atrophy.

Pompe's disease, like all corpuscle corpuscles, affects the ability to break down complex molecules in small bodies.

Cause

Because the 17th pair of chromosomes appear to be lesions, the body lacks the enzyme α-glucosidase, which cannot decompose glycogen. The glycogen that cannot be decomposed will accumulate in the lysosome, causing muscle weakness, heart enlargement and other causes.

symptom

Infant type: It takes about 6 months to develop, often dying before the age of 1

1. Severe muscle weakness

2. Tongue hypertrophy

3. Cardiac hypertrophy

4. Liver hypertrophy

5. Dyspnea

6. Unable to reach the target of development as scheduled

Late hairstyle: about 20 to 60 years old

1. Gradual muscle weakness, especially the trunk and lower limbs

2. Feeling tired during the action

3. Shortness of breath

4. Sleep apnea syndrome or intermittent sleep

5. Morning headache

6. Daytime sleepiness

7. Scoliosis

8. Lower back pain

diagnosis

Pompe disease can be easily identified in infants because its symptoms are more pronounced and the urgency of the condition is often evident. In many cases, a chest X-ray shows significant cardiac hypertrophy, and the physician will perform further tests on this serious problem. Other abnormal symptoms found by the physician or parent (eg, dyspnea or motor function development) will provide doubts about Pompe's disease.

For older patients, many of the symptoms of Pompe's disease are similar to many common diseases, and they do not occur at the same time. These challenges make the road to correct diagnosis very tortuous. In addition, many physicians have never seen patients with Pompe disease. For these reasons, physicians often need to rule out other causes before they begin to consider diseases that are rare such as Pompe disease. The initial respiratory symptoms of the patient can occur in many diseases. Some patients have muscle weakness and shortness of breath. Common misdiagnosis includes limb-type or Duchenne muscular dystrophy (limb-girdle or Duchenne muscular dystrophy). With polymyositis (an inflammatory muscle disease)

treatment

Enzyme replacement therapy (ERT) has been approved by the FDA for the treatment of Pompe disease. The GAA enzyme lacking in the patient is regularly injected into the blood, and the current health insurance can be paid according to the law.

Physicians may use several different support therapies depending on the individual's symptoms.

Diet therapy

Due to difficulty eating, many patients will find it difficult to maintain normal weight. To solve this problem, many doctors will prescribe a special high-protein, low-carbohydrate diet that has proven beneficial for some patients. of. For some cases, the patient's diet should also be supplemented with amino acids (the basic framework of the protein). However, dietary therapy does not produce consistent results. The 1997 study found that only 25% of patients with Pompe's disease had improved respiratory or skeletal muscle function using a high-protein diet.

Patients who are unable to maintain normal weight may also need to be fed with a feeding tube to confirm that they have adequate daily intake of calories; they are also suitable for those who have difficulty breathing, cannot swallow properly, or use a respirator. The patient. The feeding tube can be temporarily fed by the nasal passages or fed through the stomach for long-term use. In general, feeding tube feeding is common in infants because of their severe muscle weakness. Patients and their families should ask their physician or dietitian to determine the appropriate calorie intake. Calorie intake varies with age, height, and health.

Respiratory therapy

As a result of the severe debilitation of the muscles supporting the lungs, physicians regard breathing therapy as an important part of the treatment of the disease. Many patients with Pompe's disease need to use a respirator in order to reduce the amount of breathing work, or in emergency situations with respiratory failure.

The respirator is a pump that delivers warm, humid air to the lungs at different pressures. Some cases only need to be used at night in the beginning, however, as the disease worsens, the patient will increase the need for respirators during the day. There are several different types of respirators, and their models are suitable for both the patient's needs and the ability to breathe spontaneously. Patients who are able to inhale themselves may be more suitable for breathing apparatus that can match the patient's breathing pattern; however, other patients may need a computer equipped with a respirator that can be pre-set with a breathing cycle to operate automatically.

prevention

Prevention of infection is a very important part of caring for patients with Pompeii. Most patients have some degree of ventilatory deficiencies, and they are very susceptible to lung (pneumonia). Therefore, any infection must be treated immediately before it deteriorates to a critical level. Once the infection begins to worsen, in addition to controlling symptoms, respiratory assistance is often required to help the patient slow down lung function damage that may occur during this period.

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