Chem Path Qs 2 Flashcards
Antibodies raised in Coeliac Disease?
anti TTG, anti endomysial
Ix for hereditary sperocytosis
Osmotic fragility
Antibody in Primary Billary cirrhosis
Anti mitochondrial
Ix for PND
Hams test
Anti GAD is raised in
T1DM
Anti GAD is raised in
T1DM
A 24-year-old woman goes to a party where she has some pills. She subsequently becomes feverish and confused. She was found to be hyperthermic and blood results showed a raised urea and creatinine, her myoglobin was also found to be high. Which drug?
Ecstasy
James Pond comes to A&E claiming he’s been poisoned. Minutes later he dies. His skin was brick red and there was a faint odour of almonds. Which drug?
Cyanide
A man was found collapsed on the floor of his room and his breathing was found to be severely depressed. A urine test was found to be positive for 6-MAM. Which drug?
Heroin
A 25 year old male is admitted with hyperventilation. He is sweating and appears nauseous. He says that he has ringing in his ears. Blood gases show that he has mixed acid-base disturbance. Which drug?
Salicylates
Which of the above techniques can be used to test for all classes of drugs of abuse (DOA)?
Immunoassay
What sample is required for use with gas chromatography mass spectroscopy?
Blood
Colorimetric can be used to test for which drug commonly taken in overdose?
paracetamol
Which of the above techniques can be used to test for benzodiazepines and various antipsychotic drugs?
Liquid chromatography
Which of the above techniques can be used to analyse samples of stool, liver and also urine?
Thin layer chromatography
Hypovolaemic with urinary Na+
Vomit9ing
Hypotension with urinary Na+>20 mmol/L
Diuretic excess
Hypervolaemic with urinary Na+>20 mmol/L
Chronic renal failure
The commonest enzyme deficiency seen in CAH
21-hydroxylase
Levels of this steroid are raised in the serum of CAH patients
17-hydroxyprogesterone1
Increased levels are seen in the urine of CAH patients
Pregnanetriol
The sodium and potassium pattern seen in CYP21 deficiency.
Low Na high K
A 33-year old overweight man complains of headaches and visual disturbances which he blames for two car accidents he has been involved in the last month. He has a ruddy appearance, and the GP notes that his weight is mainly concentrated in a ‘pot belly’. The man’s blood pressure is 150/100, and following a 48hr low –dose dexamethasone test, the patient has a cortisol of 500nm/L, and after a 48hr high-dose dexamethasone test, the cortisol was 250nmol/L
Cushing’s diesase
`Alternative name for post-strep glomerulonephritis
Acute diffuse proliferative glomerulonephritis
A gentleman who presented with haemoptysis and haematuria. Histology shows the accumulation of macrophages in Bowmans capsule. Immunology reveals the patient is HLA-DR2, and possesses Anti-glomerualr basement membrane antibody
Goodpastures
A 50 year old male with a persistant runny nose and sinusitis that is worsening. Immunology reveals circulating auto-antibodies against neutrophil cytoplasmic antigents (C-ANCA). Histology also shows the accumulation of macrophages in Bowmans capsule.
Wegener’s
A 63 year old Scandanavian male presents with painless haematuria, fatigue, weight loss and fever. On examination a mass is found unilaterally in the loin. Family History reveals his father had Von Hippel-Lindau disease
Clear cell renal Ca
A 61-year-old woman with kown peripheral vascular and ischaemic heart disease is started on an ACEi by her GP. 3 weeks later she is admitted to hospital with increasing confusion and pruritis. Investigations reveal FBC: Hb 12.3g/dl, MCV 85.2fl, WCC 6.8 x 109/l, Plt 403 x 109/l; U&Es: Na+ 130mmol/l, K+ 7.4 mmol/l, urea 37mmol/l, Cr 841umol/l; urinalysis – protein ++, ketones +, blood nil.
Renal artery stenosis
A 24-year-old man presents to his GP with an increasing rash over his lower limbs and buttocks associated with arthralgia and haematuria. He is admitted to the local hospital where investigations reveal deranged renal function and a raised serum IgA.
Henoch-Schonlein purpura
A 50 yr old lady with A BMI of 24 who had intermittent pain in the loin, with nausea and vomiting now has a low urine output and urinalysis shows microscopic haematuria
Renal obstruction
ECG changes in hyperkalemia
Peaked T waves
Loss of p waves
Broad QRS
A 25 year old man tells you he had dark brown urine after a sore throat and has since had microscopic haematuria. Renal biopsy reveals proliferation of the mesangium.
IgA nephropathy
The gold standard for measuring glomerular filtration rate (GFR)
Inulin
Cause of a hypervolaemic hyponatraemia
CKD - urinary protein loss and oedema. This leads to a reduced circulating volume causing RAAS activation and icreased Na. This leads to ADH secretion causing waterr retention and hypervolaemic low Na. Will have high urine osmolality.
Diagnostic criteria for SIADH
Na 100
Urine Na > 20
Euvolaemia
No adrenal, renal or thyroid dysfunction.
Metabolic effects of Insulin overdose
Cause hypokalaemia and metabolic alkalosis
Cause of high potassium on Renal failure
Reduced distal renal sodium leads to reduced exchange of K in the collecting duct
Bartters Syndrome
AR defect in thick ascending limb. Get LOW K, ALKALOSIS AND HYPOTENSION. Can also lead to increased Ca loss.
ACE inhibitor effect on K
Reduced
LFTs in non-alcoholic fatty liver diease
Raised AST and ALT (AST:ALT
Crigler-Najjar
heriditary disease resulting in complete or partial reduction of conjugation of bilirubin. Leading to unconjugated hyperbilirubinaemia.
Dublin Johnson
AR disorder resulting in raised conjugated bilirubin.
SynACTHen Test Results for addisons
Cortisol
Causes of raised amylase
Pancreatitis
Peritonitis
Parotid inflammation.
Vitamin E deficiency
Leads to haemolytic anaemia and spino-cerebral neuropathy (ataxia and areflexia)
Vitamine B6 deficiency
Causes siderblastic anaemia and seborrhoeic dermatitis. Common cause of deficinecy is isoniazide
Homocystinuria
deficiency in the enzyme cysthathionine sythetase. Presents with fair skin and brittle hair. Developmental delay, LDs and convulsions. Mx with B6 supplements and low-methionine diet.
PKU
Will be fair haired and present with developmental delay and a musty odur. Due to phenylalanine hydroxylase deficiency.
Von Gierkes Disease
Defect in glucose-6-phosphate results in failure to get glucose from glycogen. Presents with hypoglycaemia and elarged liver and kidneys.
Maple Syrup Urine disease
Organic aciduria due to imapired metabolism of leucine. Presents as toxic encephalopathy with lethargy, poor feeding, hypotonia and seizures. Have a sweet odour and sweaty feet.
Farbys Disease
Lysosome storage disorder due to deficiency in alpha-galactosidase. Presents with developmental delay and dysmorphia. Will also have a CHERRY RED SPOT.
Theophylline SEs?
nausea, diarrhoea, tachycardia, arrhythmia, headache. Toxic effects are increased by erythromycin
Drug that can cause low Na?
Carbemazepine
Test for Thiamine deficiency (B1)
Red cell transketolase activity (an enzyme that requires thymine).
Galactosaemia
AR mutation resulting in excessive glactose levels when milk is introduced. Presents with poor feeding, conjugatd hyperbilirubinaemia, cataracts and hepatomegaly. Fehlings, Benedicts test positive. Negative glucose oxidase strip test.
ALP in Myeloma?
Normal
Pellegra
Niacin deficiency (vit B3). Dermatitis, dementia and diarrhoea. Rash in necklace distribution.
half lives for drug to reach steady state?
4-5
A patient presents with confusion, and abnormal electrolytes. Which is commonly low in a patient with a metabolic alkalosis?
Potassium
A patient presents with confusion, and abnormal electrolytes. Treatment with probenicid will reduce the concentration of what?
Urate
A 30 year old farmer presents to casualty complaining of diarrhoea, crampy abdo pain, sweating, and painful mouth ulcers. On questioning he admitted accidentally ingesting liquid malathion (an organophosphorus insecticide) the day before.
Atropine
Increased osteoblastic and osteoclastic activity causes bone pain. Calcium and PTH are normal.
Pagets
Commonest malignant primary bone tumour affecting the epiphysis. Composed of giant cells.
Osteoclastoma (giant Cell)
Radiolucent smooth edged lesion of the metaphysis abutting but not impinging on the physis. May predispose to low energy fractures.
Bone Cyst
Radiological features include loss of joint space, periarticular osteoporosis and subarticular erosions. Highly increased risk of septic arthritis.
RA
Subtype of thyroid carcinoma which, unlike the commonest type, classically metastasizes hematogenously and to bone
Follicular
An ANA positive lady with a malar butterfly rash and history of DVT suffers her third miscarriage. Haematological investigation reveals a prolonged APTT and thrombocytopenia
Antiphospholipid
Pseudohypoparathyroid Sx?
Round face, short 4th and 5th metacarpal/tarsals. Sx of low Ca. Raised PTH and ALP. Dues to insensitivity to PTH. Also called Albright’s hereditary osteodystrophy
Major antagonist of serine protease at site of injury?
Alpha1 anti trypsin
Wite papule and macroglossia are associated with
Amyloid
Daily water requirement for neonate relative to adult?
6xmore
High fluid intake in first week of life is associated with
NEC
Pseudo Vitamin D deficiency is associated with?
Defect in renal hydroxylation
Insulitis?
Inflammation of Langerhans cells can lead to diabetes
Lipoprotein lipase deficiency symptoms?
Abdo pain, recurrent pancreatitis, milky plasma and chylomicrons found in plasma after fasting.
