Question

Choose one disease/condition that affects the respiratory system. Some examples include: cystic fibrosis, asthma, pneumonia, emphysema, lung cancer, mesothelioma, and black lung disease. Research the disease/condition that you have chosen.

In your discussion post, identify the disease or condition you have chosen. Then give background information on what the disease is and what causes it. Next talk about the common symptoms. Then indicate how the condition is diagnosed (tests, procedures, etc). Next talk about treatment options and the overall prognosis for the patient.

Answer 1

Cystic Fibrosis-

This is One of the Most common Fatal Inherited Disorders.

It is Very common in Caucasians , White Americans.

Cause-

* This is an Autosomal Recessive disorder.

*There is a Genetic Mutation in Chromosome number 7,Long Arm ,Region No-3 ,Band no-1 & Sub band number-2(7q312) encoding CFTR gene which on Translation gives CFTR Protein

So the Disease is Transmitted to the child only if there is Mutation In Both Parents.If only one parent have this mutation ,This causes a Carrier State.

The mutation can occur in different ways-

Either the Synthesis of CFTR Protein is Lost--Causes Severe Cystic Fibrosis.

If there is CFTR geneSynthesis,But less Functional-Less severe Cystic Fibrosis.

Or the Quantity of Synthesis is reduced (When there is mutation in the promotor Sequence)-Here also less severe.

Most COmmon type of Mutation is 3 BP deletion in the Aminoacid Sequence 508 that codes for phenyl alanine---This mutation cause abnormal Folding of CFTR Protein by Endoplasmic Reticulum and Is Destroyed.--Which Manifest as severe Cystic Fibrosis.

Clinical Features-

It Depends on the severity of Disease.

CFTR Protein is Associated with Transport of Chloride ions and HCO3- ions(In GIT) & also Have a role in inhibiting Epithelial Na+ Channel.

1.Sweat Glands-There is Hyperchloridemia in the Sweat (Mother may Complaints the child is Salty)

2.In GIT-Exocrine Pancreatic Insufficiency----Protein and Fat malabsorbtion----Steatorrhea(Large Foulsmeling Grey Stools)

3.There may be Bilateral congenital Absence of Vas deference(In males)-Patient Infertile.

4.Respiratory System-

In respiratory System Due to Absence of CFTR protein the mucus formed will be too thick such that the Cililary clearance mechanism Fails to clear the mucus outside.So therewill Be thich mucus in which the entrapped organisms are present ,Which causes damage to Respiratory Epithelium.

1.Nasal Polyps:Cystic Fibrosis Increases risk for Polyps in the nose.

2.Cough.

3.Bronchits

4.Bronchiectasis-May presents Copious amounf of Foul smelling Sputum,Crepitus,Hemoptysis

5.Pnemuonia

6.Lung Abcess.

Investigations-

Clinical Diagnosis is important

1.Sweat Chloride Test-Concentration of Chloride in Sweat greater than 60meq/l is daignositc of Cystic Fibrosis.

2.DNA Nucleotide Sequencing -TO Determine Mutations in the gene 7q312

Treatment-

Classical Cystic Fibrosis is a Vere severe Condition-

1.Antibiotics-

most Common Microbes Associated with Cystic Fibrosis are -

1.Staph Aureus

2.H.Influenza

3.Pseudomonas Aeroginosa-Important Organism

Cover Antiboitics against these Organisms,Sputum Culture--Identify Infecting Organism--Antibiotics.

2.Physiotherapy(Exercise)

Aimed at Secreation of Mucus Outside.

3.Gene Therapy to Correct Mutations in the CFTR gene.

Prognosis-

Patients have Severe Cystic Fibrosis have very poor prognosis,Usually this condition is Fatal due to Complications like Broncheictasis,Lung abcess,Primary Biliary Sclerosis.

In Less severe mutations where there is CFTR gene but Less functional or Less In Quantity,There is Good Prognosis with only some of the Above manifestation.

There is now new Advanacements occuring in Gene Therapy treatment of Cystic Fibrosis,Which when Successfuul will have Good Prognosis.