Diseases and Disorders Flashcards
Zellweger syndrome
autosomal recessive disorder of peroxisomal biogenesis due to a mutated PEX gene
Refsum disease
autosomal recessive disorder of alpha-oxidation buildup of phytanic acid due to inability to degrade it
Adrenoleukodystrophy
X-linked recessive disorder of beta oxidation due to mutation of ABCD1 gene; VLCFA buildup in adrenal glands, white matter of brain, testes
Paralysis
when nerve signals to muscles are disrupted, and individuals are unable to perform any voluntary movements
Arthritis
damage to joints that causes pain, stiffness and inflammation
Rhinitis
excessive secretion from goblet cells and the narrowing of nasal cavities
Sinusitis
inflammation of the tissue lining the sinuses which can cause swelling which can lead to blockage of draining of orifices
Obstructive sleep apnoea
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)
Pneumothorax
collapsed lung due to the presence of air in the pleural cavity
Hydrothorax
pleural effusion (fluid accumulation) in the pleural cavity
Haemothorax
presence of blood in the pleural cavity
Asthma
medical condition that affects the ability to breathe and causes parasympathetic hyperactivity (bronchoconstriction)
Pneumonia
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)
COPD
disease caused by constant irritation of the respiratory tract
Pericardial effusion
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)
Gastro-oesophageal disease
condition in which stomach acid repeatedly flows back up into the oesophagus and can lead to oesophageal ulcers, Barret’s oesophagus and strictures
Barret’s oesophagus
abnormal change in mucosal cells from stratified squamous epithelium to simple columnar epithelium with interspersed goblet cells
Ascites
accumulation of fluid in the peritoneal cavity that can cause liver and heart problems
Volvolus
twisting of the intestine and mesentery around itself to cause a bowel obstruction
Gastritis
inflammation of the lining of the stomach
Gallstones
stones formed in the gallbladder caused by bile being too concentrated
Cholecystitis
inflammation of the gallbladder due to bile being trapped
Peptic ulcer
functional GIT disorder caused by infection, stress or overproduction of gastric acid
Appendicitis
inflammation of the appendix
Haemorrhoids
swollen blood vessels that line the anal opening caused by chronic excess pressure from straining during bowel movement, persistent diarrhoea and pregnancy
Anaemia
condition manifested when the amount of haemoglobin is insufficient within RBCs, or the number of RBCs is reduced
Sickle cell anaemia
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
Thrombocytopenia
low platelet levels in the blood
Thrombus
blood clot that forms inside an artery or vein (can be treated by blood thinning agents)
Embolus
thrombus that breaks loose and travels from one location in the body to another
Lobulated kidney
rare variation of development in which renal lobules have a visible anatomical space between them
Congenital polycystic kidney
genetic disorder that causes many fluid-filled cysts to grow in the kidneys
Horsehoe kidney
condition in which the kidneys are fused together at the base
Renal colic
specific type of pain caused by urinary stones or other UT disorders
Ureteric calculus
presence or formation of stones within the ureters
Bladder calculus
bladder stones
Pitting oedema
condition where excess fluid accumulates in the body’s tissues and causes swelling that leaves an indentation when pressed
Lymphoedema
condition characterised by the accumulation of lymphatic fluid in tissues leading to a chronic swelling caused by a block in the lymphatic system
DiGeorge syndrome
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
Goitre
endocrine disorder caused by an iodine deficient diet which hinders the synthesis of TH leading to hypothyroidism
Cretinism
endocrine disorder caused by congenital hypothyroidism characterised by arrested physical and mental development
Grave’s disease
autoimmune disease caused by hyperthyroidism
Hyperparathyroidism
endocrine disorder caused by too much PTH and leads to increased serum calcium levels and deposits of calcium in the kidneys and arteries
Hypoparathyroidism
endocrine disorder caused by too little PTH and leads to decreased serum calcium levels and spastic contractions of skeletal muscles
Conn syndrome
adrenal cortex disorder caused by excessive aldosterone production resulting in low renin levels
Cushing syndrome
adrenal cortex disorder caused by excessive glucocorticoid production
Addison disease
adrenal cortex disorder caused by autoimmune destruction of the adrenal cortex
Pheochromocytoma
rare tumour of the adrenal medulla composed of chromaffin cells
Diabetes mellitus type 1
associated with a deficiency of insulin secretion due to a loss of beta cell mass in pancreatic islets
