The disease that occurs due to the defect in the genes of one or other parent and is transmitted to the offspring is known as disease/disorder?

Appeared in: AIIMS Patna NO - 2020

Explanation

The term 'hereditary' specifically refers to traits or disorders passed down from parents to their children through genetic material (genes).
The question describes the exact mechanism of hereditary transmission: a defect in parental genes being passed to the offspring.
Examples of hereditary diseases include single-gene disorders like sickle cell anemia, cystic fibrosis, and hemophilia.
These conditions are also known as Mendelian diseases, as they follow the patterns of inheritance described by Gregor Mendel.

Option A: Congenital simply means 'present at birth'. While many hereditary diseases are congenital, not all congenital conditions are hereditary. Some are caused by factors during pregnancy, such as infections or exposure to toxins.
Option B: Organic refers to a disorder with a known physical or physiological cause, affecting an organ or body system. It is a very broad category and does not specifically describe the mode of transmission from parent to child.
Option D: An allergic disease is a hypersensitivity reaction of the immune system to a substance. It is not caused by the transmission of a defective gene from a parent in the way hereditary diseases are.

Clinical Relevance

Nursing practice connection: Knowing Classification of diseases based on origin and transmission helps nurses interpret findings accurately and avoid errors in routine assessment, medication administration, and patient teaching.
Understanding the difference between hereditary and congenital is crucial for accurate patient history taking and diagnosis.
Nurses play a key role in identifying patients who may benefit from genetic counseling based on family history of hereditary diseases.
What if? If a baby is born with a defect after the mother had an infection during pregnancy, the condition is congenital, but likely not hereditary. This distinction impacts counseling for future pregnancies.

How to Approach the Question

First, carefully read the question to identify the core concept. The key phrases are 'defect in the genes' and 'transmitted to the offspring'.
Analyze the keywords. 'Transmitted to offspring' points towards a concept of inheritance.
Evaluate each option based on this core concept.
Recognize that 'Hereditary' directly matches the definition of genetic transmission from parent to child.
Differentiate 'Hereditary' from 'Congenital' by remembering that congenital means 'present at birth' and can have non-genetic causes.
Eliminate 'Organic' and 'Allergic' as they describe the nature or mechanism of a disease, not its inheritance pattern.

Concept Tested & Keywords

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Practise the full AIIMS Patna NO - 2020

Attempt every question from this paper in a timed mock, then review the full solution for each one.