Potential Questions Flashcards
Which joint is most commonly affected in gout?
1st Metatarsophalangeal Joint
A 6 month old boy presents with developmental delay and hyperuricaemia. At 1 year, he begins to exhibit choreiform movements and regularly bites his lip. What is the most likely diagnosis?
Lesch-Nyhan Syndrome
X-Linked Recessive deficiency in HPRT
An alcoholic presents with a painful 1st metatarsophalangeal joint. The joint is aspirated, and needle shaped crystals which are negatively birefringent are seen under polarising light. What is the most likely diagnosis, and what is the most likely chemical composition of the crystals?
Gout
Monosodium Urate
A man presents with an acutely painful left knee. The joint is aspirated, and rhomboid shaped positively birefringent crystals are seen under polarising light. What is the most likely diagnosis and what is the most likely chemical composition of the crystals?
Pseudogout
Calcium Pyrophosphate
List 2 drugs which may be used in acute gout management.
NSAIDs
Colchicine
A man is diagnosed with gout, and is prescribed a xanthine oxidase inhibitor to aid with reducing urate synthesis. Which drug was he most likely prescribed?
Allopurinol
A woman presents with corneal arcus and tendon xanthomata at a young age. Her older brother experienced similar symptoms. What is the most likely diagnosis?
Familial Hypercholesterolaemia
A woman is prescribed a statin. What would be the expected effect on:
a) LDLs
b) HDLs
c) Triglycerides
a) Reduction
b) Increase
c) Slight Increase
How is Gilbert’s Syndrome inherited?
Autosomal Recessive
A man presents with an episode of jaundice after not eating for 12 hours. LFTs are grossly normal. Which enzyme is likely to be defective?
UDP glucoronyl transferase
What is the most sensitive marker for testing liver function?
Prothrombin Time
What is the most common form of liver disease in the Western World?
Non-Alcoholic Fatty Liver Disease
A man presents with painless jaundice. He is later diagnosed with Pancreatic Cancer. To where is his tumour most likely to metastasise?
Liver
A young boy is flagged by teachers as having difficulty with basic learning in school. On further investigation, he is found to have high serum levels of phenylalanine. What is the most likely diagnosis, and which enzyme is he deficient in?
Phenylketonuria
Phenylalanine Hydroxylase
What is the most common pathogenesis behind Congenital Hypothyroidism?
Thyroid Agenesis
How is Cystic Fibrosis screened for?
Measure serum Immune Reactive Trypsinogen levels.
A child presents with vomiting, a respiratory alkalosis and seizures. On examination, he is found to have high serum levels of ammonia. Which class of disease is he most likely to be suffering from?
Urea Cycle Disorders
A child presents with vomiting, seizures and loss of consciousness. Their medical history is unremarkable, however their Mother reports giving them 2 aspirin tablets for a headache yesterday evening. What is the most likely diagnosis?
Reye Syndrome
A neonate is found to be hyponatraemic. What is the most likely cause?
Congenital Adrenal Hyperplasia
Which enzyme is most likely to be deficient in a neonate presenting with congenital adrenal hyperplasisa?
21-Hydroxylase
What is the most common type of Porphyria?
Porphyria Cutanea Tarda
A child is diagnosed with a Porphyria. What is the most likely diagnosis?
Erythropoietic Protoporphyria
A young woman presents with abdominal pain, constipation palpitations and a recent seizure. She has just returned from a holiday with her friends where she drank a lot of alcohol. Her father has experienced similar attacks. What is the most likely diagnosis?
Acute Intermittent Porphyria
Autosomal Dominant, only presents with neurovisceral symptoms
A young woman presents with a potential case of acute intermittent porphyria. Which investigation may be most helpful in coming to a diagnosis?
Increased urinary PBG