Rheum Flashcards
Azathioprine
MoA
Toxicity test
Side effects
Metabolised to mercaptopurine - purine analogue that inhibits purine synthesis
TPMT
Bone marrow suppression, N/V, pancreatitis
Raynauds Mx
First line
Second line
CCB - eg nifedipine
IV prostacyclin infusion - effects may last few months
Marfans mutation
Inheritance
Fibrillin 1 (ch15) AD
Dermatomyositis skin features (5)
Macular over back and shoulders Photosensitive Heliotrope rash in orbital region Gottrons papules - roughened red papules on extensor surface of fingers Nail fold capillary dilatation
Common DM mutation
Anti-Mi-2 pos (25%)
Osteomalacia causes
Vitamin D deficiency ( lack of sunlight, malabsorption, diet) Renal failure Drug- anticonvulsants Inherited Vit D resistance Liver disease -cirrhosis
Osteomalacia features
Bone pain
Proximal weakness
Fractures
Muscle tenderness
Osteomalacia Ix profile
Low Vit D
Raised ALP
Low Ca and PO4 (only in about 30%)
XR features rickets/OM
Rickets - cupped , ragged metaphysical surface
Adults - translucent bands (Loosers zones or pseudo fractures)
AOSD Mx
NSAIDs for Fever, joint pains and serositis
Steroids for Sx but not prognosis
IL1 or anti ting
Marfans cardiac defects
Most common- dilatation of aortic sinuses (90%)
Can produce aneurysm, dissection, AR)
Mitral prolapse (75%)
Marfans eye signs
Upwards lens dislocation (superotemporal ectopia lentis)
Blue sclera
Myopia
Cystinuria what is it
AR condition characterised by recurrent renal stones
Defect in membrane transport of cystine, ornithine, lysine, arginine (COLA)
Cystinuria genetics
Ch 2 SLC3A1
Ch 19 SLC7A9
Cystinuria Dx test
Mx
Cyanide nitroprusside test
Hydration
D penicillamine
Urinary alkalinisation
