MRCP 1 Flashcards
HLA B27
Ankylosing splondylosis
Psoriatic arthritis
Reactive arthritis
Acute anterior uveitis
HLA B51
Behcet’s
HLA A3
Haemochromatosis
HLA DQ2/8
Coeliac disease
HLA DR2
Narcolepsy
Goodpasture’s
HLA DR3
Dermatitis herpetiformis
Sjogren’s
Primary biliary cirrhosis
HLA DR4
T1DM
Rheumatoid arthritis (DRB1 gene)
LVEF
Stroke volume
Stroke volume/end diastolic LV volume x100
Stroke volume = end diastolic volume - end systolic volume
Cardiac output
Stroke volume x heart rate
Pulse pressure
Systolic pressure - diastolic pressure
Increased pulse pressure = less complaint aorta, increased stroke volume
Systemic vascular resistance
Mean arterial pressure/cardiac output
Bitemporal hemianopia
Optic chiasm lesion
More upper = inferior compression eg pituitary tumour
More lower = superior compression eg craniopharyngioma
Homonymous hemianopia
Loss of vision in same halves of both eyes
Congruous - lesion of optic radiation or occipital cortex
Incongruous - optic tract lesion
Macular spared - lesion of occipital cortex
Homonymous quadrantanopia (hint = PITS)
Homonymous = binasal/bitemporal/upper/lower, lesions are beyond optic chiasm
Superior - lesion of inferior optic radiation in temporal lobe
Inferior - lesion of superior optic radiation in parietal lobe
Ejection systolic murmur
Expiration - AS and HOCM
Inspiration - pulmonary stenosis and ASD
Tetralogy of Fallot
Pansystolic murmur
Mitral regurgitation - quieter in inspiration
Tricuspid regurgitation - louder in inspiration
VSD - harsh in character
Late systolic
Mitral valve prolapse
Coarctation of the aorta
Early diastolic
Aortic regurgitation
Pulmonary regurgitation (Graham steel murmur)
Mid-late diastolic
Mitral stenosis - rumbling
Severe aortic regurgitation - rumbling, AKA Austin flint murmur
Continuous machine like murmur
Patent ductus arteriosus
Loop diuretics
Na K Cl co-transporter in thick ascending loop of Henle
E.g. furosemide, bumetanide, torsemide
Thiazide like diuretics
Inhibition of Na/Cl co-transporter I’m distal convoluted tubule
E.g. indapamide, metolazone
Thiazide diuretics
Inhibit Na/Cl co transporter in distal convoluted tubule and collecting ducts
E.g. bendroflumethiazide
Aldosterone antagonists
Blocks effects of aldosterone on distal convoluted tubule and collecting ducts
E.g. spironolactone, eplerenone
Digoxin
Reversibly binds to Na/K/ATPase
Shortens QT
Toxicity (aggravated by low K) - dizziness, vomiting, blurred vision
Arrhythmia class Ia
Blocks sodium channels
Increases AP duration
Quinidine, procainamide, disopyramide
Arrhythmia class Ib
Blocks sodium channels
Decreases AP duration
Lidocaine, tocainide, mexiletine
Arrhythmia class Ic
Block sodium channels
Flecainide, encainide, propafenone
Arrhythmia class II
Betablockers
Propranolol, bisoprolol, atenolol
Arrhythmia class III
Blocks potassium channels
Amiodarone, sotalol,
Arrhythmia class IV
Calcium channel blockers
Verapamil, diltiazem
Waldenstroms macroglobinaemia
Lymphoplasmacytoid malignancy characterised by the secretion of a monoclonal IgM paraprotein
Seen in older men
Weight loss, lethargy, hyperviscosity, lymphadenopathy, cryoglobulinaemia
IgM paraproteinaemia
Bone marrow diagnostic
Rituximab chemo
Homocystinuria
Deficiency of cystathionine beta synthase
Autosomal recessive
Marfanoid, learning difficulties, kyphosis, seizures, DVTs
Increased serum homocysteine
Treated with B6 (pyridoxine)
Di George
Primary immunodeficiency disorder caused by T cell deficiency and dysfunction, micro deletion of chromosome 22
CATCH 22
Klinefelter’s
47 XXY
Tall, lack of secondary characteristics, small firm testes, infertile, gynaecomastia, high gonadotropin hormone and low testosterone, increased LH and FSH
Sulphonylureas
Bind to ATP dependent potassium channel on beta pancreatic cells, e.g. gliclazide
Clopidogrel/ticagrelor
Inhibits ADP binding to platelet receptors
Letrozole/anastrazole
Aromatase inhibitors that reduce peripheral oestrogen receptors
Churg-Strauss (eosinophilic granulomatosis with polyangiitis)
pANCA small-medium vessel vasculitis
Asthma, mononeuritis, eosinophilia, paranasal sinusitis
Live vaccines
BCG, yellow fever, MMR, polio, typhoid
T (8;14)
Burkitts lymphoma
T (9;22)
CML
T (11;14)
Mantle cell lymphoma
T (11;22)
Ewing sarcoma
T (15;17)
Acute promyelocytic syndrome
T (14;18)
Follicular lymphoma
Marfan’s
Autosomal dominant, FBN1 gene mutation (fibrillin-1=glycoprotein) cardiovascular, ocular, and skeletal abnormalities (tall, scoliosis, flat feet, pectus excavatum, mitral/tricuspid regurg, aortic aneurysm)
Goodpasture’s
Anti-glomerular basement membrane disease, pulmonary haemorrhage and rapidly progressive glomerulonephritis, HLA DR2, renal biopsy: linear IgG deposits along the basement membrane, raised transfer factor secondary to pulmonary haemorrhages, management = plasma exchange (plasmapheresis), steroids, cyclophosphamide
Budd Chiari syndrome
Thrombosis of hepatic veins, usually in context of underlying haematological disease e.g. polycythaemia rubra vera, thrombophilia: activated protein C resistance, antithrombin III deficiency, protein C & S deficiencies, pregnancy, combined oral contraceptive pill: accounts for around 20% of cases, classic triad of ascites, abdominal pain, and hepatomegaly. USS abdo w/ doppler
Thyrotoxic storm
Precipitated by thyroid/non-thyroid surgery, trauma infection, iodine load e.g. contrast, sx include fever > 38.5ºC, tachycardia, confusion and agitation, nausea and vomiting, hypertension, heart failure, abnormal liver function test - jaundice may be seen clinically. Management = dexamethasone, luogol’s iodine, propylthiouracil/methimazole and beta blockers
Trinucleotide rpt disorders
Fragile X (CGG), Huntington’s (CAG), myotonic dystrophy (CTG), Friedreich’s ataxia* (GAA), spinocerebellar ataxia, spinobulbar muscular atrophy, dentatorubral pallidoluysian atrophy
Nerve conduction studies
Axonal - normal conduction velocity, reduced amplitude
Demyelinating - reduced conduction velocity, normal amplitude
Minimal change disease
mainly in children, usually idiopathic, T-cell and cytokine-mediated damage to the glomerular basement membrane → polyanion loss
the resultant reduction of electrostatic charge → increased glomerular permeability to serum albumin, causes: nephrotic syndrome, normotension - hypertension is rare, highly selective proteinuria, only intermediate-sized proteins such as albumin and transferrin leak through the glomerulus
renal biopsy, normal glomeruli on light microscopy, electron microscopy shows fusion of podocytes and effacement of foot processes
Management: oral corticosteroids: majority of cases (80%) are steroid-responsive, cyclophosphamide is the next step for steroid-resistant cases
IgG
Enhance phagocytosis of bacteria and viruses
Fixes complement and passes to the fetal circulation
Most abundant isotype in blood serum
IgA
IgA is the predominant immunoglobulin found in breast milk. It is also found in the secretions of digestive, respiratory and urogenital tracts and systems
Provides localized protection on mucous membranes
Most commonly produced immunoglobulin in the body (but blood serum concentrations lower than IgG.)
Transported across the interior of the cell via transcytosis
IgM
First immunoglobulins to be secreted in response to an infection
Fixes complement but does not pass to the fetal circulation
Anti-A, B blood antibodies (cannot pass to the fetal circulation, which could result in haemolysis)
Pentamer when secreted
IgD
Role in immune system largely unknown
Involved in activation of B cells
IgE
Mediates type 1 hypersensitivity reactions
Synthesised by plasma cells
Binds to Fc receptors found on the surface of mast cells and basophils
Provides immunity to parasites such as helminths
Least abundant isotype in blood serum
Addison’s
Primary adrenal insufficiency, characterised by a deficiency in the hormones cortisol and aldosterone produced by the adrenal glands, hypoglycaemia, hyponatraemia, hyperkalaemia, metabolic acidosis. short synacthen test, adrenal autoantibodies
Neuroleptic malignant syndrome
Associated with antipsychotics and withdrawal of L dopa. Theory is dopamine blockade induced by antipsychotics triggers massive glutamate release and subsequent neurotoxicity and muscle damage. Occurs in hours to days of starting antipsychotics. pyrexia, muscle rigidity, autonomic lability: typical features include hypertension, tachycardia and tachypnoea, agitated delirium with confusion, management = dantrolene/bromocriptine, stop antipsychotic, IVT.
Nephrotic syndrome
Minimal change disease (children, Hokin’s, nsaids)
Membranous glomerulonephritis (proteinuria, nephrotic syndrome, CKD, infection, rheumatoid drugs, malignancy)
Focal segmental glomerulonephritis (idiopathic, HIV, heroin, proteinuria, nephrotic syndrome, chronic kidney disease)
Nephritic syndrome
Haematuria, hypertension
Rapidly progressive glomerulonephritis - aka crescentic glomerulonephritis
rapid onset, often presenting as acute kidney injury, causes include Goodpasture’s, ANCA positive vasculitis
IgA nephropathy - aka Berger’s disease, mesangioproliferative GN
typically young adult with haematuria following an URTI, there is considerable pathological overlap with Henoch-Schonlein purpura (HSP)
Mixed nephrotic/nephritic syndrome
Diffuse proliferative glomerulonephritis
classical post-streptococcal glomerulonephritis in child
presents as nephritic syndrome / acute kidney injury
most common form of renal disease in SLE
Membranoproliferative glomerulonephritis (mesangiocapillary)
type 1: cryoglobulinaemia, hepatitis C
type 2: partial lipodystrophy
Anti-centromere
CREST syndrome
Aka limited scleroderma
Calcinosis, Raynaud’s, oesophageal dysfunction, sclerodactyl and telangiectasia
Anti-histone
Drug-induced lupus
Livedo reticularis
Livedo reticularis describes an purplish, non-blanching, reticulated rash caused by obstruction of the capillaries resulting in swollen venules.
Causes
idiopathic (most common)
polyarteritis nodosa
systemic lupus erythematosus
cryoglobulinaemia
antiphospholipid syndrome
Ehlers-Danlos Syndrome
homocystinuria
Kallmans syndrome
Hypogonadotrophic hypogonadism, normal or above average height with anosmia, low testosterone, LH and FSH are low or inappropriately normal. Causes of lack of secondary sexual characteristics
Acute Interstitial Nephritis
Accounts for 25% of drug induced kidney injury. Acute inflammation causing marked interstitial oedema and interstitial infiltrates in the connective tissue between renal tubules.
Triad of rash, joint pain and eosinophilia, also mild renal impairment and hypertension
sterile pyuria (wcc in urine but no infection) and white cell casts
Associated drugs: penicillin, rifampicin, NSAIDs, allopurinol, furosemide
Mx: stop causative agent, sometimes steroids
Type 1 Renal Tubular Acidosis
aka distal
failure to excrete H+
Causes: hereditary (most common, diagnosed in infants and children), autoimmune (e.g. Sjogrens, SLE, thyroiditis), nephrocalcinosis (e.g. primary hyperparathyroidism, vitamin D intoxification), nephrotoxins (e.g. amphotericin B, toluene inhalation), obstructive nephropathy
hyperchloraemic acidosis, alkaline urine, and renal stone formation, normal anion gap
Mx: sodium bicarb
Type 2 Renal Tubular Acidosis
aka proximal
failure to reabsorb bicarb in proximal tubule
metabolic acidosis with an inappropriately high urinary pH and hyperchloraemia (Cl- replaces HCO3 in circulation), low K, high urine HCO3-
Causes: hereditary (most common, diagnosed in infants and children), part of Fanconi syndrome (proximal tubular defects with impaired reabsorption of glucose, phosphate and amino acids as well as HCO3), vitamin D deficiency, cystinosis, lead nephropathy, amyloidosis, medullary cystic disease
Type 3 Renal Tubular Acidosis
Mixed type 1 and 2
proximal bicarbonate leak in addition to a distal acidification defect (mixed proximal and distal RTA)
Type 4 Renal Tubular Acidosis
Tubular hyperkalaemia
Caused by aldosterone deficiency or failure of receptors in collecting duct to respond to aldosterone causing reduced H+ and K+ excretion.
associated with renal failure caused by disorders affecting the renal interstitium and tubules
GFR >20mL/min (unlike uraemic acidosis)
always associated with hyperkalaemia (unlike others)
defect in cation-exchange in the distal tubule with reduced secretion of both H+ and K+
physiological reduction in proximal tubular ammonium excretion (impaired ammoniagenesis) due to to hypoaldosteronism, results in a decrease in urine buffering capacity
associated with: Addison’s disease or post bilateral adrenalectomy
acidosis not common unless there is associated renal damage affect the distal tubule
the H+ pump in the tubule is not abnormal so that patients with this disorder are able to decrease their urinary pH to < 5.5 in response to the acidosis
mild metabolic acidosis, HCO3 >15, hyperkalaemia
JVP
A wave = atrial contraction (large if increased pressure e.g. tricuspid/pulmonary stenosis, pulmonary hypertension, absent if AF)
Cannon a waves = atrial contraction against closed tricuspid valve, seen in complete heart block, VT, nodal rhythm, single chamber pacing
C wave = closure of tricuspid valve
V wave = passive filling of blood into atrium against closed tricuspid valve, giant v waves in tricuspid regurg
X descent = fall in atrial pressure during ventricular systole
Y descent = opening of tricuspid valve
Hypersensitivity type 1
Anaphylactic - IgE bound to mast cells, associated with atopy
Hypersensitivity type 2
Cell bound - IgM or IgG binds to antigen on cell surface. E.g. goodpastures, pernicious anaemia, autoimmune haemolytic anaemia, haemolytic transfusion reaction, ITP, bullous pemphigoid
Hypersensitivity type 3
Free antigen and antibody combine, IgG or IgA. E.g. SLE, post strep glomerulonephritis, extrinsic allergic alveolitis
Hypersensitivity type 4
T cell mediated. E.g. TB, graft vs host disease, contact dermatitis, scabies, MS, GBS
Hypersensitivity type 5
Antibodies recognise and bind to cell surface receptors either stimulating or blocking ligand binding. E.g. Graves, myasthenia gravis
Anti-RNP (ribonuclear protein)
Mixed connective tissue disease
Pulsus paradoxus
Greater than normal fall in systolic BP during inspiration = faint or absent pulse in inspiration = severe asthma/cardiac tamponade
Slow rising/plateau pulse
Aortic stenosis
Collapsing pulse
Aortic regurgitation, patent ductus arteriosus, hyperkinetic states e.g. anaemia, thyrotoxic, fever, exercise, pregnancy
Pulsus alternans
Regular alternation of force of arterial pulse - severe LVSD
Bisferens pulse
Double pulse - 2 systolic peaks, mixed aortic valve disease
Jerky pulse
HOCM (also sometimes bisferiens)
Anti-Jo
Polymyositis (more sensitive)
Dermatomyositis
Anti-smooth muscle antibodies
Autoimmune hepatitis
Anti Scl 70
Scleroderma
Alports
Alport’s syndrome is usually inherited in an X-linked dominant pattern. It is due to a defect in the gene which codes for type IV collagen resulting in an abnormal glomerular-basement membrane (GBM). The disease is more severe in males with females rarely developing it.
Alport’s syndrome usually presents in childhood. The following features may be seen:
microscopic haematuria
progressive renal failure
bilateral sensorineural deafness
lenticonus: protrusion of the lens surface into the anterior chamber
retinitis pigmentosa
Diagnosis:
molecular genetic testing
renal biopsy
electron microscopy: characteristic finding is of the longitudinal splitting of the lamina densa of the glomerular basement membrane, resulting in a ‘basket-weave’ appearance
left shift
lower O2 delivery
low acidity, low temp, HbF, carboxy/methaemoglobinaemia
right shift
higher O2 delivery, high acidity, high temp
Angina management
GTN, aspirin and statin
Add in bisoprolol or long-acting dihydropyridine CCB e.g. amlodipine/ MR nifedipine/ MR felodipine
Can be used in combination but do not give verapamil/diltiazem with beta blocker (= complete heart block/HF)
If still symptomatic, add in long acting nitrate e.g. nicorandil, , ivabradine, ISMN or ranolazine. Cannot give ivabradine with verapamil/diltiazem = bradycardia. Cannot use sildenafil etc with nitrates.
Insecticide/organophosphate poisoning
Sx - inhibit anticholinesterase causing accumlation of acetylcholine, cause bradycardia, miosis, diarrhoea, confusion, vomiting, headache, weakness and increased urination. Managed with IV atropine.
Wilson’s disease
Autosomal recessive disorder of copper metabolism causing accumulation. Causes hepatic, neurological and psychiatric symptoms. Caeruloplasmin is low. Hepatic, serum and urine levels of copper are high. Caused by absence of ATP7B protein.
Minimal change disease
Mainly in children although accounts for 28% nephrotic syndrome in adults
Main presentation is nephrotic syndrome with normal renal function and normal histology except foot process fusion on electron microscopy
Treated with pred and cyclophosphamide for recurrent relapses. Can go on to develop FGFS.
Minimal change disease
Mainly in children although accounts for 28% nephrotic syndrome in adults
Main presentation is nephrotic syndrome with normal renal function and normal histology except foot process fusion on electron microscopy
Treated with pred and cyclophosphamide for recurrent relapses. Can go on to develop FGFS.
