Human Physiology

GFR is regulated by:
- Hydrostatic and oncotic pressures driving filtration.
- The structure and function of the glomerular basement membrane.
- Total filtration area available in the glomerulus.

Serum albumin is primarily synthesized in the liver. Decreased levels indicate liver dysfunction, as seen in chronic liver disease, affecting the liver’s ability to synthesize proteins.

Acidemia occurs when there is an increase in hydrogen ion concentration, resulting in a blood pH below the normal range (7.35-7.45). It can be caused by metabolic or respiratory disorders.

Hyponatremia refers to abnormally low sodium levels in the blood, often caused by excessive fluid intake, hormonal imbalances, or kidney problems.

Porphyria refers to a group of disorders caused by defects in heme biosynthesis enzymes. These defects lead to the accumulation of porphyrins, which can cause photosensitivity, abdominal pain, and neurological issues.

Fabry disease is caused by mutations in the GLA gene, which codes for the alpha-galactosidase A enzyme. This leads to the accumulation of globotriaosylceramide in various organs, causing symptoms such as pain, kidney failure, and cardiac issues.

Turner syndrome is caused by monosomy of the X chromosome (45, X), presenting with symptoms such as short stature, webbed neck, and underdeveloped sexual characteristics.

• (A) Hypokalemia refers to low levels of potassium, hence matches with (IV) Potassium.
• (B) Hypocapnia refers to low levels of CO2, hence matches with (II) CO2.
• (C) Sudoriferous glands are sweat glands, hence matches with (I) Sweat glands.
• (D) Sertoli cells play a role in spermatogenesis, hence matches with (III) Spermatogenesis.

Gaucher’s disease is caused by a mutation in the gene encoding glucocerebrosidase, leading to the accumulation of glucocerebroside in cells, particularly macrophages, and resulting in symptoms such as hepatomegaly and bone pain.

- Na⁺ (A - III): Cystic fibrosis is associated with sodium ion channel defects.
- Ca²⁺ (B - IV): Dominant deafness can be linked to calcium ion channel defects.
- K⁺ (C - I): Polycystic kidney disease is a result of defective potassium ion channels.
- Cl (D - II): Generalized epilepsy is connected to chloride ion channel dysfunction.

Alkalosis occurs when the body accumulates excessive OHions or loses too many H+ ions, leading to an increase in blood pH above 7.45.

Acute liver failure has a high mortality rate of up to 90%, particularly in cases of late-stage presentation or without timely liver transplantation.

Liver failure is commonly caused by viral infections like hepatitis B and C, which damage liver cells and disrupt its functions.

Hungry bone syndrome occurs after parathyroidectomy in patients with hyperparathyroidism. The sudden drop in circulating parathyroid hormone causes a rapid uptake of calcium and phosphorus by the bones, leading to hypocalcemia.

Warfarin is an anticoagulant medication that prevents blood clot formation by inhibiting the synthesis of clotting factors dependent on Vitamin K.

Albinism is caused by mutations in genes affecting melanin production, leading to pigmentation deficiency in the skin, hair, and eyes.

Acute liver failure is commonly caused by toxins such as those from medications (e.g., acetaminophen overdose) or environmental exposures.