Cystic fibrosis, or CF, is an inherited disease, which occurs most commonly in the Caucasian population. According to the Mayo Clinic, CF occurs in about 1 out of every 3000 live births. The disease develops when a baby inherits two copies of a mutated gene, one from each parent. Cystic fibrosis survival was once measured in months. However, with careful treatment and management of the many complications of the disease, patients are now living several decades: According to the Cystic Fibrosis Foundation, the median age for predicated survival is 37.4 years old. Babies with CF will often have certain characteristic symptoms.
Lung-Related Symptoms
The mutated genes responsible for the development of CF result in production of thick, mucus-like secretions in a variety of organs, including the lungs. The impact of these secretions is to make normal breathing difficult. As a result, babies with CF may have a persistent, wet-sounding cough. They will often develop bronchitis as cystic fibrosis progresses, and have more production of sputum, which is the mixture of saliva and mucous discharge from the airways that comes up with coughing. A baby with CF may breathe more rapidly than normal, as well as have frequent episodes of shortness of breath. Finally, babies with CF are more prone to lung infections such as pneumonia.
Pancreas-Related Symptoms
Patients with CF have a condition called pancreatic insufficiency, in which certain substances, called enzymes, are deficient or absent. These enzymes are necessary to properly digest food and extract the needed nutrients from the food. Without these digestive enzymes, many complications may occur. A deficiency in the enzyme lipase, for instance, leads to malabsorption of proteins and fat, which in turn leads to fatty, greasy stools and failure to thrive, which describes a condition in which the baby does not grow or gain weight properly. Treating CF patients with supplemental pancreatic enzymes helps to avoid these complications. Some patients also develop dysfunctional beta cells in the pancreas. Without the beta cells working properly, patients are not able to make insulin, so they end up with type 1 diabetes due to their cystic fibrosis. These patients need to be given insulin in order to survive.
Intestine-Related Symptoms
According to Dr. Julie Katkin, writing in the medical database UpToDate, about 10 to 20 percent of newborns with CF are first diagnosed due to a serious condition called meconium ileus. Meconium is the stool that babies typically pass shortly after being born. In babies with meconium ileus due to CF, this stool is not passed; it mixes with the mucus produced by the small intestine and obstructs the intestine. So a baby with meconium ileus due to CF will have a distended, bloated-appearing abdomen and will have episodes of vomiting. His intestines will probably be able to felt through the abdomen, because they are so full of the unpassed meconium.
Liver-Related Symptoms
Babies with CF may have liver problems relating to thickened secretions within the liver and bile ducts. Drs. Katkin and Schulz, writing in UpToDate, indicate that many patients have a condition called biliary cirrhosis, in which the liver becomes damaged due to the thickened bile produced in the bile duct of the patient with CF. In babies with CF, there may not be any obvious symptoms of liver disease early on; however, their liver enzyme tests will show results that are higher than normal. In addition, a physician performing an examination of the baby may be able to feel and enlarged liver and spleen. In some patients, the biliary cirrhosis worsens and progresses to end-stage liver disease; however, this does not occur in most patients.
References
- "Current Diagnosis & Treatment: Surgery"; Gerard Doherty; 2010
- Cystic Fibrosis Foundation: Frequently Asked Questions
- "UpToDate"; Denise S. Basow; 2010
- Mayo Clinic: Cystic Fibrosis
