A fatal autosomal recessive disease, a major cause of severe chronic lung disease is:

IGNOU PB Bsc Nsg.Entrance-2026

Pathology & Genetics

Easy

Appeared in: IGNOU PB Bsc Nsg.Entrance-2026

Explanation

Cystic fibrosis is the most common fatal autosomal recessive disease among Caucasians.
It is caused by mutations in the CFTR gene, which leads to thick, viscous secretions in the lungs, pancreas, and other organs.
The hallmark of the disease in the lungs is mucus plugging, chronic inflammation, infection, and the development of bronchiectasis, leading to severe chronic lung disease and respiratory failure.

Option A: Pneumonia is an acute infection or inflammation of the lung parenchyma, not a genetic disease. While patients with cystic fibrosis are prone to recurrent pneumonia, pneumonia itself is not the underlying autosomal recessive disorder.
Option B: Bronchitis is the inflammation of the bronchial tubes. It is typically caused by viruses or environmental irritants like smoke. It is not an inherited genetic disease.
Option C: Bronchiolitis is a viral infection that causes inflammation in the small airways (bronchioles), primarily affecting infants and young children. It is an acute infectious process, not a chronic genetic disorder.

Clinical Relevance

Nursing practice connection: Knowing Identification of a specific genetic disorder based on its inheritance pattern and primary clinical manifestation helps nurses interpret findings accurately and avoid errors in routine assessment, medication administration, and patient teaching.
Understanding that cystic fibrosis is a genetic disease is crucial for nurses in providing comprehensive patient and family education, including discussions on genetic counseling, carrier screening, and the inheritance pattern (25% chance with each pregnancy if both parents are carriers).
Nursing care for patients with CF is complex and focuses heavily on managing respiratory symptoms. This includes teaching and performing airway clearance techniques (e.g., chest physiotherapy, postural drainage), administering nebulized medications and antibiotics, and monitoring for signs of respiratory exacerbation.
What if? - If a person inherits only one copy of the defective CFTR gene, they are a carrier but will not have the disease. They are typically asymptomatic. This is a critical point for genetic counseling, as carriers can pass the gene to their children.

How to Approach the Question

First, analyze the question stem to identify the key defining characteristics of the condition. The keywords are 'fatal', 'autosomal recessive disease', and 'severe chronic lung disease'.
Next, evaluate each option against all three of these criteria.
Consider 'Pneumonia', 'Bronchitis', and 'Bronchiolitis'. Recognize that these are primarily infectious or inflammatory conditions, not inherited genetic diseases. This eliminates them as potential answers.
Evaluate 'Cystic fibrosis'. Recall or deduce that it is a well-known genetic disorder that fits the description of being autosomal recessive and causing progressive, severe, and often fatal lung disease.
Confirm that Cystic fibrosis is the only option that matches all parts of the question's description.

Concept Tested & Keywords

Concept Tested: Identification of a specific genetic disorder based on its inheritance pattern and primary clinical manifestation.
Stem keywords: fatal, autosomal recessive disease, severe chronic lung disease
Lead-in keywords: BEST, MOST RELEVANT CLUE
Negative lead-in flag: false

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