AIIMS Patna NO - 2020
Pathology & Genetics
Easy

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 correct term is 'Hereditary' because it specifically describes conditions passed down from parents to their offspring through genetic material.
  • Genes are the fundamental units of heredity, containing the information for traits that are transmitted from one generation to the next.
  • Hereditary diseases, also known as genetic disorders or Mendelian diseases, result from mutations in one or more genes.
  • Examples of hereditary diseases include hemophilia, cystic fibrosis, and sickle cell anemia.

Why Other Options Were Wrong

  • Option A: This term is incorrect because 'congenital' means 'present at birth'. While a hereditary disease can be congenital, not all congenital conditions are hereditary. Some are caused by environmental factors during gestation.
  • Option B: This is a broad term for any disease caused by a physical or physiological change to an organ or tissue. While a hereditary disease causes organic changes, 'organic' is not specific enough to describe the mode of transmission.
  • Option D: This term is incorrect as it describes a condition caused by an immune system overreaction to a substance (allergen). It is not related to the transmission of defective genes from parents.

Related Visual

An infographic illustrating the difference between hereditary and congenital disorders. One side shows a DNA helix being passed from parents to a child, labeled Hereditary e.g...
Clinical Relevance
  • Nursing practice connection: Knowing Definitions of disease classifications (Hereditary, Congenital, Organic, Allergic) 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 assessment and education. A nurse must be able to take a detailed family history to identify potential risks for hereditary diseases.
  • Identifying a hereditary condition allows for timely genetic counseling for the family, which can help them understand the risks, make informed decisions about future pregnancies, and prepare for the care of an affected child.
  • For patients with hereditary diseases, nurses play a key role in long-term management, monitoring for complications, administering treatments, and providing psychosocial support.
How to Approach the Question
  • First, break down the key phrases in the question stem: 'defect in the genes' and 'transmitted to the offspring'.
  • Recognize that 'transmitted' from parent to offspring via 'genes' is the definition of inheritance or heredity.
  • Evaluate each option against this definition.
  • Option A, 'Congenital', means 'present at birth' but doesn't specify the cause. This is a close distractor, but not all congenital conditions are genetic.
  • Option B, 'Organic', is too broad, referring to any physical disease.
  • Option D, 'Allergic', relates to the immune system, not genetic transmission.
Concept Tested & Keywords
  • Concept Tested: Definitions of disease classifications (Hereditary, Congenital, Organic, Allergic)
  • Stem keywords: disease, defect in genes, transmitted to the offspring
  • Lead-in keywords: is known as

Question ID

QZ-yw1RPL-FNI8pSAi860W

Reference Book

E6 Pathology- ROBBINS & COTRAN PATHOLOGIC BASIS OF DISEASE 10TH Ed p. 58-559

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