Cystic Fibrosis

Cystic fibrosis is a rare, but very serious metabolic disorder causing dysfunction of certain glands and organs of the body. In the past the condition was fatal in young age and even nowadays with all possibilities of modern medicine it causes a significant shortening of the patient’s life.

Causes

Cystic fibrosis is a genetically inherited disease. It is related to impairment of the cell membranes and their ion transport systems. The outcome is a failure of certain ion cell membrane transport, especially of the chlorine ions. This seemingly banal problem has deep consequences on many organ systems.

 

Cystic fibrosis

 

Scheme - genetic transfer of cystic fibrosis

"A" is healthy gene, "a" is sick gene, AA is a completely healthy person, Aa is a healthy transmitter and only the person, with whom two genes "a" meet, is going to be sick. We see that two health carriers will have in three cases out of four healthy children (but possible transmitters of the disease) and only in one case, their child is born sick. The risk of disease transmission is in this case 1:4.

 

Symptoms

Disrupted ability to transport ions changes the attributes of many secretory glands. Sweat glands create fluid with an excessive amount of sodium and chloride ions. The sweat is very salty and the patient looses by sweating much more ions than a normal person. Affection of pancreatic secretory function is much more serious. The secretion is dense and can cause a local obstruction and accumulation within the pancreas increasing the risk of chronic pancreatitis with all its complications including digestive problems and malabsorption of nutrients followed by weight loss and diarrhea. The stool is usually yellowish and oily due to poor absorption of fats and smells unpleasantly. The respiratory tract is usually affected very seriously. Mucus produced by cells of the airways is thick and clogs the smaller bronchi and lung alveoli. The bronchi are dilated by accumulating mucus forming the so-called bronchiectases. The patient can suffer from productive cough, bouts of shortness of breath and recurring lower respiratory tract infections such as acute bronchitis and pneumonia. Especially the respiratory infections have the major impact on shortening of life of the affected person.

Diagnosis

Diagnosis can be base on clinical symptoms and positive incidence of cystic fibrosis in family history. Sweat test is an easy way to support our suspicion as it is based on measuring the amount of salt in the patient’s sweat. The diagnosis is confirmed by a genetic test that proves the genetic mutation responsible for ion canal dysfunction (CFTR genes).

Treatment

The approach must be complex as is the impact of the disease. Pancreatic malfunction can be mitigated by regular oral administration of pancreatic digestive enzymes. Respiratory disorders must be treated by mucus dissolving drugs and every respiratory infection must be cautiously treated with antibiotics. The patients often take antibiotics regularly in lower doses to prevent the infection occurrence. If there is present severe organ damage, the transplantation may be performed. The prognosis improves with modern therapeutic methods. In the past the affected patients usually died in child’s age but nowadays they can live for decades.