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What Exactly Happens In Cystic Fibrosis?

Hi there.

So, my uncle (married to my mom's sister) died of Cystic Fibrosis before I was born, six months after he married my aunt. So, I knew that he had died, but I didn't know what he died of until very recently. So, I've started to wonder more about what this actually is. What exacly goes wrong? What symptoms happen? Of course, I've heard about this in science class, but I've never really known the ins and outs and I've started to wonder. Can anyone help me out?

By the way, my aunt has now been living without her husband for twenty-five years. She's never remarried, and she's doing fine. She knows he's waiting for her in heaven.
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replied January 20th, 2018
Thank you for asking at Ehealth forum!

I read your question and i understand your concern.
Cystic fibrosis (CF) is an autosomal recessive monogenic disorder resulting from mutations in CFTR gene located on chromosome 7, that presents as multisystem disease.First signs and symptoms occur in childhood but about 5% of patients are diagnosed as adults.
The major systems involved are respiratory system,gastrointestinal system and genitourinary system.
Upper respiratory tract disease is almost ubiquitous in patients with CF, besides lower respiratory tract diseases like bronchiectasis,recurrent infections,Pneumothoraces and Corpulmonale at the end.
Gastrointestinal diseases range from meconium ileus in infancy to exocrine pancreatic insufficiency ,malabsorption and insulin dependent diabetes mellitus at the end.
Genitourinary disorders range from late onset puberty to infertility.
It is diagnosed by combination of clinical criteria and abnormal CFTR function as documented by sweat chloride tests,nasal PD measurements and CFTR mutation analysis.
Treatment is directed to promote clearance of secretions,control infection in lung,provide adequate nutrition and prevent intestinal obstruction.However,treatment of choice is Gene therapy.
Cause of death in more than 95% of cases is due to type 2 respiratory failure.

I hope it helps. Stay in touch with your healthcare provider for further guidance as our answers are just for education and counselling purposes and cannot be an alternative to actual visit to a doctor.
Take care
Khan
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