Mucoviscidosis is a symptom complex involving inadequate functioning of the pancreatic gland coupled with chronic lung infections, plus a very high concentration of sodium in the sweat. It is one of the most common inherited disorders, appearing usually in infancy.
Apart from the pancreatic gland being abnormal, the glands in the lining of the bronchial tree are overactive. Increased secretions occur, becoming infected early in life. Supportive infections of the bronchi are present, and these gradually worsen and keep on recurring with increased severity in many cases.
The infant is usually normal at birth. But it soon becomes apparent that all is not well, with a failure to thrive in the first weeks, despite a good appetite. The abdomen tends to distend, and there is constant diarrhea. A distressing cough develops very early in life, persisting after the first infection. If the disease is not recognized and treated early, the degree of chest infection gradually worsens, with increased amounts of sputum and respiratory distress. Often there is the telltale clubbing of the fingers.
The very high level of sodium (salt) in the body sweat is often diagnostic of the disease.
Cystic fibrosis is another of those relatively rare ones, occurring about once in each 2,000 births. The disease is inherited, principally affecting the pancreas gland in the abdomen, and is characterized by recurring chest infections and a lot of salt in the sweat
There is usually a chronic persisting cough that does not respond very well to therapy; baby fails to develop normally; there is diarrhea and a distended tummy.
Treatment is difficult, and is best undertaken by a specialist with a sound Knowledge of the disease who is located in a major public hospital with full backup resources for investigation and treatment.
The ultimate outlook has improved neatly in recent years. Parents are cautioned that other children in the family even a high chance of inheriting the same disease.
The patient must be under special medical supervision, for treatment must be very carefully carried out. The infant’s general condition and growth usually improve quite rapidly with corrective therapy. The pancreatic deficiency is usually overcome by the administration of pancreatin with all meals. Protein and vitamin supplements are usually advisable, and often it is necessary to limit the daily fat intake.
It is essential that vigorous attempts be made to keep the chest as free as possible from infections. This is probably the most important aspect of therapy. Treatment is aimed at removing debris from the bronchial tree, and preventing or eradicating infections in general in the lungs.
Vigorous physiotherapy is often very successful. “Postural coughing and drainage” is being carried out with success even in small children. At first this may require the assistance of the physiotherapist, but soon parents may be taught the basics of these procedures and become skilled in following them through on a regular basis. Physical exercises are also a good natural form of physiotherapy, and swimming, games and active exercises are to be encouraged.
Various types of aerosols (including simple saline forms) are often successful in initiating the cough reflex and clearing the bronchial passageways. These are sometimes incorporated into known bronchodilators, such as salbutamol and the range of newer products, if they appear to be effective.
Oral chemotherapy and antibiotics can effectively reduce the level of chest infection. Often, when given in the aerosol forms, it may greatly assist in limiting the spread of lung infection. Some of the newer potent antibiotics seem particularly successful in this disease.
But the individual patient will have a special line of therapy prescribed to meet particular requirements in most cases. It is a specialized form of therapy, and this section is included more for information than as a specific guide for treatment in any particular case.