GN 1.3.3 Clinical Correlation Marfan Syndrome and Cystic Fibrosis

Question 1

What are the important characteristics of Cystic Fibrosis?

Answer 1

Mutation in the CFTR gene leads to abnormal calcium channel. Leading to the inability to reabsorb chloride ions. This can result in unusually salty skin and increased stickiness in mucous due to the decreased fluid in the mucous. This leads to increased susceptibility to pulmonary disorders and infections.

Question 2

What are the important characteristics of Marfan’s Syndrome?

Answer 2

Marfan syndrome is a genetic defect in FBN1 gene that codes for fibrillin, and is a autosomal dominant mutation. This is a spectrum disorder and can lead to defective cartilage tissue. Patients tent to have long arms and a longer torso. Patients need to be aware of cardiovascular issues (aortic root dilation and aneurism) and orthopedic issues.