This autosomal recessive disorder is caused due to a mutation in a gene on chromosome 7 which codes for its namesake transmembrane conductance regulator, which serves as a chloride ion channel.
The orphan drug Dornase Alfa is a DNase that can be used to treat this disease, and N-acetylcistine is sometimes used to treat this condition. Patients of this disorder can develop ABPA due to infection by fungi of genus Aspergillus, and this disease is caused by the deletion of a single phenylalanine codon. This autosomal recessive disorder is caused due to a mutation in a gene on chromosome 7 which codes for its namesake transmembrane conductance regulator, which serves as a chloride ion channel. Individuals with this disorder have abnormally high salt concentrations in their sweat. For 10 points, name this disorder characterized by excessive mucus buildup in lungs.
The orphan drug Dornase Alfa is a DNase that can be used to treat this disease, and N-acetylcistine is sometimes used to treat this condition.
cystic fibrosis [accept CF]