Cystic fibrosisis an inheritable and life-threatening disorder that affects roughly 30,000 Americans and as many as 70,000 people worldwide.
Genetics
Cystic fibrosis (CF) is anautosomal recessive disorder.
By definition, a recessive gene is one that can be masked by a dominant gene.
Illustration by Verywell
Types of CFTR Mutations
Not all CFTR mutations are created equal.
Based on how defective the protein is, these systems can malfunction in often serious ways.
The CFTR protein is referred to as a channel protein.
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With cystic fibrosis, the CFTR protein functions abnormally.
That said, there are factors that can influence the severity and progression of the disease.
Chief among these is the timing of diagnosis and treatment.
Newborn screening is considered vital as it allows immediate treatment of the disease.
Doing so can slow or prevent the damage that can occur in early childhood.
Despite advances in diagnosis and treatment, challenges remain.
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