"Best Of Five Questions For MRCP UK And Ireland Examinations"
Dr. Osama Amin MBChB, MRCPUK part I,MRCPI part I ,MRCPI part II written Senior House Officer and 4th year student of the…..Board of Neurology. ....... Teaching Hospital /Department of Neurology
Dedication to The Republic Of Iraq and Iraqi Doctors all over the world.
Q1- Alkaptonuria, all are true except: 1-an autosomal recessive disorder due to deficiency of the enzyme homogenitisic acid oxydase 2-renal stones are rare 3-interverteberal disc calcification 4-dark sweat stained clothing 5-pale pinnae
Answer 5 1-true, causing accumulation of homogenitisic acid polymers and deposition in cartilage and soft tissues 2-also aortic valve disease and ocular involvement are rare 3-and arthritis 4-and dark –black urine 5-false, pigmentation of the pinnae Remember, there is no specific treatment, only symptomatic eg for the arthritis
Q2 Cystinosis , all are true except 1-Cystine accumulates in the kidneys 2-it is an autosomal recessive disease due to failure of cystine export out of lysosomes 3-renal stones are common 4-Fanconi syndrome is seen 5-cysteamine is effective at reducing cystine accumulation but unfortunately unpleasant
Answer 3 1-and reticuloendothelial and other tissues 2-causing wide spread intra-lysosomal accumulation of cystine 3-false. Unlike CYSTINURIA, no stones 4-true with severe hypophophatemic rickets 5- And rarely tolerated
Q3 Cystinuria, all are true except: 1-an autosomal recessive disorder of dibasic amino acid transport 2-usually presents in the second or 3rd year of life with renal stones 3-there is no malnutrition 4-the renal stones are radio-opaque 5-can be treated by alkalinization of urine and oral penicillamine
Answer 2 1-in the proximal renal tubules and jujenum of transport of cystine, ornithin, arginine and lysine (COAL) 2- Usually presents in the second or 3rd DECADES of life with renal stones 3-true, there is no malnutrition effect from losing these amino acids 4-true due to high sulphar content 5-and captopril Remember: diagnosis by measuring the urinary level of cystine and or chromatographic analysis of the renal stone
Q4 Homocystinuria, all are true except 1-an autosomal recessive abnormality of cystathionine beta synthetase 2-osteopororsis is an important part of the picture 3-can be diagnosed by urinary cyanide nitroprusside test 4-can be treated by dietary methionin and cystine supplements 5-the accumulated homocysteine is thought to interfere with collagen cross linking
Answer 4 1-causing accumulation of homocystein and methionine 2-and vascular thrombosis +mental retardation 3-this detects elevated urinary homocystein 4-false , by methionine RESTRICTION and cystine supplements . B6 is effective in 50% of cases .some variants responds to folate or B12 supplements.
Q5 Phenylketonuria, all are true except : 1-an autosomal recessive disorder of phenyl alanine hydroxylase 2-fair hair and hyperpigmented pigmented skin with mental retardation are very important parts of the picture 3-can be treated by low phenylalanine diet 4-skin eczematous changes are seen 5-fish oil has been shown to improve symptoms
Answer 2 1-the result is hyperphenylalaninemia and increased excretion of phenyl pyruvic acid (phenyl ketone) in urine 2-false, fair hair and skin and blue eyes, mental retardation and eczema 3-with tyrosine supplements 4-true, also may be seen in Whiscot Aldrich and Chidiak Higashi. 5-true. Remember: Guthrie screening test is used in the diagnosis
Q6 Acute intermittent porphyria, all are true except: 1-is caused by an abnormality of the enzyme PBG (porphobilinogen) deaminase . 2-sun induced skin burns are prominent 3-hyperetension and tachycardia are prominent parts of the picture 4-treated by high carbohydrate intake and infusion of acid hematin 5-one of the differential diagnosis of acute abdomens
Answer 2 1-causing accumulation of PBG and delta ALA which are very high in urine in acute attacks 2-FALSE, NO skin manifestations, unlike other porphyrias 3-and neuropsychiatric manifestations
4-and avoid precipitating drugs and give GnRH analogues for cyclical attacks in females 5-abdominal pain and constipation and vomiting Remember: the MEDICAL acute abdomens: acute intermittent prophyrias, familial Mediterranean fever, lead poisoning, tabetic abdominal crisis
Q7 Hypercholesteremias, all are true except: 1-familial hypercholesteremia is caused by defective or absent LDL receptors 2-tendon xanthomas and xanthelasmas are typical 3-deitary treatment alone can be effective in selected cases 4-lipemia retinalis is the fundoscopic sign 5-risk of premature coronary artery disease
Answer: 4 1-and polygenetic hypercholesteremia is caused by unkown genetic defects interacted with enviromental factors 2-may be the only clue 3-but usually drug treatment is needed with statins being the first line 4-false a feature of a very high serum TRIGLYCERIDES 5-hence should be detected and treated aggressively
Q8 Hypertriglyceridemia, all are true except: 1-primary hypertriglyceridemia is caused by Apoprotein CII or lipoprotein lipase deficiency 2-lipemia retinalis is the fundoscopic sign 3-palmar xanthomas are prominent 4-pancreatitis and retinal vein thrombosis are complications 5-hepatosplenomegaly is seen
Answer 3 1-causing severe hypertriglyceridemia from early childhood 2-true ….useful to see the lipemic plasma!!! 3-FALSE, a feature of REMNENT hyperlipidemia due to apo E2 homozygosity 4-true seen in very high levels 5-true, with tubero-eruptive xanthomas
Q9 Regarding lipid lowering drugs, all are true except 1-bile acid sequestrants have no effect on HDL level but lowers serum LDL 2-fish oil although effectively lowers serum triglycerides but it increases the serum LDL cholesterol 3-probucol lowers serum LDL but unfortunately lowers serum HDL also 4-statines lowers LDL and HDL cholesterol and lowers serum triglycerides also 5-nicotinic acid is the most powerful one to raise serum HDL cholesterol
Answer: 4 1-also no effect on serum TG 2-and no effect on serun HDL cholesterol 3-and no effect on serum TG 4-false, lowers LDL cholesterol and TG and raises HDL cholesterol 5-and lowers serum TG and LDL cholesterol
Remember these facts when prescribing lipid lowering drugs .these drugs are very commonly seen in clinical practice .DON’T say it is difficult to handle them!!!!
Q10 Side effects of lipid lowering drugs, all are true except 1-Nicotinic acid causes flushing and impaired oral GTT 2-fish oil causes halitosis and impairs glycemic control in type II diabetes 3-gemfibrozil lowers the effect of warfarine 4-statines causes myositis and even rhabomyolisis 5-cholestyramine impairs the absorption of thyroxin
Answer 3 1- and acanthosis negricans 2- and nausea and bloating 3- potentiates the effect of warfarine .Gemfibrozil absorption is impaired by cholysteramine 4- simvastatine potentiates the effect of warfarine and digoxine 5- and warfarine and digoxine
You should know these side effects and interactions as they are usually given with other cardiovascular drugs.
Q11 Abetalipoprotenemia, all are true except 1-there is defective production of Apo B particles (B100 by the liver and B48 by the intestine) 2-there is low serum cholesterol but high triglycerides 3-abnormaly shaped RBCs 4-typical fundoscopic abnormality 5-may respond to vitamine E supplements
Answer 2 1-true by the liver and intestine 2-false, both are LOW 3-acnathocytes on blood film 4-retinitis pigmentosa 5-true...And supply other fat soluble vitamins as there is fat malabsorption Also there is ataxia and peripheral neuropathy
Q12 Fabrys’s disease, all are true except 1-X linked recessive deficiency of alpha galactosidase A 2-typical skin rash is seen 3-renal failure is unfortunately common 4-usually seen as periodic crises 5-bleeding tendency is prominent
Answer 5 1-causing accumulation of glycolipids 2-angiokeratoma 3-also painful hands and feet 4-true as sudden flare up 5-false: THROMBOTIC complications
Treatment is by recombinant alpha galactosidase A therapy and renal replacement therapy for the renal failure
