Random Flashcards
Wegener’s granulomatosis
Form of vasculitis. Rare multi system autoimmune disease. Causes recurrent respiratory infections.
SLE systemic lupus erythematosus
Systemic connective tissue autoimmune disease. Widespread signs and symptoms such as a characteristic butterfly rash on the face and fever, malaise, joint pain and fatigue.
Cheurg Strauss syndrome
Allergic autoimmune vasculitis. 1st stage - asthma ; 2nd - hypereosinophilia leading to system damage eg. Lungs and GI tract ; 3rd - vasculitis causing cell death.
DiGeorge syndrome
22q11 deletion.
Heart problems - tetralogy of fallot
Learning difficulties, cleft palate, glue ear, small mouth, low set ears, wide set eyes, long narrow face and broad nose with bulbous end.
Cystic Fibrosis
Autosomal recessive 🔺F508 mutation for CFTR. Thick mucus secretions - recurrent respiratory infections, failure to thrive, fatty stool, clubbing.
Haemophilia
A- factor VIII deficiency
B - factor IX deficiency
Recessive X linked. Prolonged bleeding as deficient in clotting factors.
Crie de chat
T
Charcott Marie tooth
F
Psoriasis
T
Von Hippel Lindau
W
Buchet’s
R
Peutz-Jegher’s
P
Olser-Weber-Rendu
S
Wilson’s disease
N
Crohn’s disease
F
Zollinger-Ellison syndrome
H
Curlings disease
K
Menetriers disease
K
Chaga’s
I
Paterson-Brown-Kelly / Plummer-Vinson
D
Barrett’s oesophagus
D
Achalasia
G
Glossitis
B
Giardiasis
J
Myasthenia gravis
I
Gilbert’s
J
Crigler-Najjar
J
Budd-Chiari
M