Focus on Rare Diseases - Cystic Fibrosis
Cystic Fibrosis (abbreviated CF) is an inherited disease caused by mutations in the CFTR gene (Cystic Fibrosis Transmembrane Conductance Regulator), which encodes for proteins that play an important role in regulating salt and water homeostasis in cell membranes. When the CFTR gene is mutated, the function of the protein is affected, causing the mucus to become abnormally thick and affecting the normal function of several organs.
Patient A, who is 23 years old, was born at full term and weighed 10 pounds, 2 ounces. His mother had gestational diabetes and subsequently breastfed him. Over time, his weight percentile dropped significantly, and at 6 months, after taking oral antibiotics to treat a suspected ear infection, he developed a severe vitamin K deficiency that manifested itself in the form of black bruises the size of a quarter of his body, as well as pseudobart's syndrome. He was hospitalized until intravenous fluids stabilized his condition and normalized his electrolytes. A vitamin K vaccine was also administered. At 9 months of age, he was diagnosed with cystic fibrosis, and genetic mutation analysis identified him as a delF508 pureblood. Between hospitalization and diagnosis, he suffered from malnutrition with protein edema, and his birth weight percentile was above the 97th percentile and below the age- and sex-adjusted 5th percentile. Once pancreatic enzymes were started after diagnosis, his weight percentile increased to approximately the 30th percentile.
In general, symptoms of cystic fibrosis may begin to show in infancy or early childhood, but in some cases, symptoms may be relatively mild and may not show up until later in childhood. Because cystic fibrosis is a hereditary disease, family history is important for early diagnosis. If there is a family member with cystic fibrosis or someone who carries the gene mutation, or if a child develops the symptoms described above, the doctor may recommend relevant genetic testing and screening.
Currently, cystic fibrosis is still a chronic genetic disease with no cure. Although cystic fibrosis cannot be completely cured, comprehensive treatment and management can significantly improve quality of life, slow the disease process, and enable patients to better cope with the effects of the disease. Examples include the use of antibiotics to treat lung infections, mucolytics and respiratory dilator medications to improve respiratory function, and pancreatic enzymes to aid in digestion and nutrient absorption. Or through physical therapy, such as vibration therapy and airway cleansing, to help clear mucus and phlegm from the airways.
The incidence of cystic fibrosis is the highest in the United States compared to other countries. In response, the U.S. has taken steps to address the matter. The U.S. government, private foundations, and non-profit organizations have provided substantial financial support to cystic fibrosis research, which is used to promote the development of new treatments and medications The U.S. Food and Drug Administration (FDA) approves cystic fibrosis-related medications at a faster rate, helping to bring new medications to the marketplace as quickly as possible for patient use. At the same time, as people's understanding of rare diseases increases, so does the world's acceptance of people with rare diseases, and people with rare diseases have access to more employment opportunities, allowing them to live longer with independence.
