JAWAHARLAL NEHRU TECHNOLOGICAL UNIVERSITY HYDERABAD B. Pharmacy I Year PATHOPHYSIOLOGY Previous Question Paper (September/October - 2023 - R17)

Intracellular accumulation occurs due to the inadequate removal of normal or abnormal substances, which then build up in cells. The primary mechanisms include:

1. Abnormal metabolism: A genetic or acquired defect in an enzyme leads to the failure to break down a substance, causing it to accumulate (e.g., storage diseases).
2. Defective protein folding or transport: Mutations or cellular stress prevent the proper folding or packaging of proteins, leading to intracellular aggregation.
3. Lack of an enzyme: The absence of a critical enzyme in the catabolic pathway prevents the degradation of substrates, leading to their storage within lysosomes or the cytoplasm.
4. Ingestion of indigestible materials: Cells may take up exogenous materials (like carbon particles) that the cell machinery cannot degrade or transport out, resulting in permanent accumulation.

Fluctuations in the white blood cell (WBC) count, known as leukocytosis (high count) or leukopenia (low count), present with distinct clinical manifestations:

• Leukocytosis: Often associated with infection or inflammation, clinical signs include fever, chills, night sweats, unexplained weight loss, and fatigue. Patients may also exhibit localized symptoms such as redness, swelling, or pain at the site of an infection.
• Leukopenia: Characterized by a reduced ability to fight infection, clinical signs include recurrent or persistent infections, mouth ulcers, skin abscesses, sore throat, and persistent fever. Patients may also experience general malaise, weakness, and an increased susceptibility to opportunistic pathogens.