Instruction: answer ALL questions Q1. a). A nineteen-year-old girl was admitted
ID: 305455 • Letter: I
Question
Instruction: answer ALL questions Q1. a). A nineteen-year-old girl was admitted to hospital with colicky abdominal pain, which had started suddenly twelve hours before. She had vomited several times but had not passed stool since the pain started. Her abdomen was tender on examination but was otherwise normal. Her pulse was 140/min and her blood pressure was 160/100mmHg. After she had been taken to the ward for observation, a nurse in the emergency room noticed that a specimen of patient's urine. which had been collected for routine testing, had become a deep red colour although it had been normal when first passed. On being informed of this, the admitting doctor questioned the patient further and examined her more carefully. She said that she had also noticed cramping pains in her arms. Investigations screening test for urinary porphobilinogen: strongly positive quantitative analysis of urine: porphobilinogen 6-aminolaevulinic acid uroporphyrin coproporphyrin very high very high slightly raised slightly raised (I mark) (1 mark) (1 mark) i. Account for her acute constipation ii. Account for the change in colour of the patient's urine on standing iii. What is the screening test for urinary porphobilinogen? iv. How low do you think her red cell PBG deaminase was, compared to normal controls? Why? v. Based on your knowledge of the genetic basis of the disorder, what advice would you give family members? (1 mark) (2 mark)eExplanation / Answer
1) Her constipation may be due to her condition. Acute attacks of hereditary coproporphyria are characterized by abdominal pain, nausea, vomiting and loss of appetite. These symptoms are often accompanied by constipation and a fast pulse rate.In this autosomal dominant disorder patient may exhibit neurologic damage that leads to peripheral and autonomic neuropathies.
2) The urine of the girl experiencing an acute attack of coproporphyria may be dark or it may darken on standing, particularly in sunlight because of the presence of porphilinogen which condenses to porphyrin in urine
3)Watson–Schwartz test,resin method or hoesch test
4)The enzyme porphobilinogen deaminase (PBG-D) is abnormally low in the liver and in most of a patient with Acute attacks
5)Genetic counselling,decrease intalke of non prescribed unsafe drugs, Check urine periodically for PBG if any member in the family is affected with this genetic disorder to rule out disease in early stage because when it precedes liver transplant may be needed.Thus genetic counselling prior to marriage be a preventive measure in all genetic inherited diseases