Diseases and Disorders

Question 1

Zellweger syndrome

Answer 1

autosomal recessive disorder of peroxisomal biogenesis due to a mutated PEX gene

Question 2

Refsum disease

Answer 2

autosomal recessive disorder of alpha-oxidation buildup of phytanic acid due to inability to degrade it

Question 3

Adrenoleukodystrophy

Answer 3

X-linked recessive disorder of beta oxidation due to mutation of ABCD1 gene; VLCFA buildup in adrenal glands, white matter of brain, testes

Question 4

Paralysis

Answer 4

when nerve signals to muscles are disrupted, and individuals are unable to perform any voluntary movements

Question 5

Arthritis

Answer 5

damage to joints that causes pain, stiffness and inflammation

Question 6

Rhinitis

Answer 6

excessive secretion from goblet cells and the narrowing of nasal cavities

Question 7

Sinusitis

Answer 7

inflammation of the tissue lining the sinuses which can cause swelling which can lead to blockage of draining of orifices

Question 8

Obstructive sleep apnoea

Answer 8

obstruction of the airway due to over-relaxed muscle tone of the pharyngeal muscle caused by enlarged tongue, tonsils or obesity (can be treated by CPAP or surgery)

Question 9

Pneumothorax

Answer 9

collapsed lung due to the presence of air in the pleural cavity

Question 10

Hydrothorax

Answer 10

pleural effusion (fluid accumulation) in the pleural cavity

Question 11

Haemothorax

Answer 11

presence of blood in the pleural cavity

Question 12

Asthma

Answer 12

medical condition that affects the ability to breathe and causes parasympathetic hyperactivity (bronchoconstriction)

Question 13

Pneumonia

Answer 13

infection of the lung that causes fluid/pus buildup in the alveoli which prevents effective gaseous exchange (can be treated by antivirals, antibiotics or oxygen therapy)

Question 14

COPD

Answer 14

disease caused by constant irritation of the respiratory tract

Question 15

Pericardial effusion

Answer 15

abnormal large amount of fluid accumulation in the pericardial sac caused by the fibrous layer of the pericardium not distending which reduces blood filling in ventricles and CO (can be treated by pericardiocentesis)

Question 16

Gastro-oesophageal disease

Answer 16

condition in which stomach acid repeatedly flows back up into the oesophagus and can lead to oesophageal ulcers, Barret’s oesophagus and strictures

Question 17

Barret’s oesophagus

Answer 17

abnormal change in mucosal cells from stratified squamous epithelium to simple columnar epithelium with interspersed goblet cells

Question 18

Ascites

Answer 18

accumulation of fluid in the peritoneal cavity that can cause liver and heart problems

Question 19

Volvolus

Answer 19

twisting of the intestine and mesentery around itself to cause a bowel obstruction

Question 20

Gastritis

Answer 20

inflammation of the lining of the stomach

Question 21

Gallstones

Answer 21

stones formed in the gallbladder caused by bile being too concentrated

Question 22

Cholecystitis

Answer 22

inflammation of the gallbladder due to bile being trapped

Question 23

Peptic ulcer

Answer 23

functional GIT disorder caused by infection, stress or overproduction of gastric acid

Question 24

Appendicitis

Answer 24

inflammation of the appendix

Question 25

Haemorrhoids

Answer 25

swollen blood vessels that line the anal opening caused by chronic excess pressure from straining during bowel movement, persistent diarrhoea and pregnancy

Question 26

Anaemia

Answer 26

condition manifested when the amount of haemoglobin is insufficient within RBCs, or the number of RBCs is reduced

Question 27

Sickle cell anaemia

Answer 27

type of anaemia due to a genetic disorder; autosomal recessive single point mutation in the beta-globin gene which changes the shape and function of RBCs

Question 28

Thrombocytopenia

Answer 28

low platelet levels in the blood

Question 29

Thrombus

Answer 29

blood clot that forms inside an artery or vein (can be treated by blood thinning agents)

Question 30

Embolus

Answer 30

thrombus that breaks loose and travels from one location in the body to another

Question 31

Lobulated kidney

Answer 31

rare variation of development in which renal lobules have a visible anatomical space between them

Question 32

Congenital polycystic kidney

Answer 32

genetic disorder that causes many fluid-filled cysts to grow in the kidneys

Question 33

Horsehoe kidney

Answer 33

condition in which the kidneys are fused together at the base

Question 34

Renal colic

Answer 34

specific type of pain caused by urinary stones or other UT disorders

Question 35

Ureteric calculus

Answer 35

presence or formation of stones within the ureters

Question 36

Bladder calculus

Answer 36

bladder stones

Question 37

Pitting oedema

Answer 37

condition where excess fluid accumulates in the body’s tissues and causes swelling that leaves an indentation when pressed

Question 38

Lymphoedema

Answer 38

condition characterised by the accumulation of lymphatic fluid in tissues leading to a chronic swelling caused by a block in the lymphatic system

Question 39

DiGeorge syndrome

Answer 39

the absence or underdevelopment of the thymus resulting in very low T cell counts which leads to an increased susceptibility to viral, fungal and bacterial infections

Question 40

Goitre

Answer 40

endocrine disorder caused by an iodine deficient diet which hinders the synthesis of TH leading to hypothyroidism

Question 41

Cretinism

Answer 41

endocrine disorder caused by congenital hypothyroidism characterised by arrested physical and mental development

Question 42

Grave's disease

Answer 42

autoimmune disease caused by hyperthyroidism

Question 43

Hyperparathyroidism

Answer 43

endocrine disorder caused by too much PTH and leads to increased serum calcium levels and deposits of calcium in the kidneys and arteries

Question 44

Hypoparathyroidism

Answer 44

endocrine disorder caused by too little PTH and leads to decreased serum calcium levels and spastic contractions of skeletal muscles

Question 45

Conn syndrome

Answer 45

adrenal cortex disorder caused by excessive aldosterone production resulting in low renin levels

Question 46

Cushing syndrome

Answer 46

adrenal cortex disorder caused by excessive glucocorticoid production

Question 47

Addison disease

Answer 47

adrenal cortex disorder caused by autoimmune destruction of the adrenal cortex

Question 48

Pheochromocytoma

Answer 48

rare tumour of the adrenal medulla composed of chromaffin cells

Question 49

Diabetes mellitus type 1

Answer 49

associated with a deficiency of insulin secretion due to a loss of beta cell mass in pancreatic islets