Pelita Harapan University

FMS 1 - 2013

WEEK 1: Fifi

TUTOR GUIDE

FMS 1 Block
Student case: Tutorial 1 Page 1 You are a student in Semester 8 and working in the pediatric outpatients. You are asked to see Fifi. She is 2 years old and is brought to the clinic by mother because she was feeling unwell. About 4 months ago her mother noticed her eyes were yellow and these have become worse. In the past 2 weeks her skin is also becoming yellow. Fifi has no other past history of illness, has no fever and has been healthy.

What are Fifis problems? What mechanisms might explain her problem?

Tutorial 1 Page 2 When you examine Fifi, you note her eyes and skin are yellow. Her general examination is otherwise unremarkable. When you examine her abdomen, it is not tender but you think her liver is palpable 5 cm below the costal margin. There are no other findings. What do these new findings mean? What structures might be involved?

What might be possible causes for Fifis liver to be large? Describe the cellular mechanisms which are involved?

Tutorial 2 Review the Learning Issues Tutorial 2 Page 3 Two years later, Fifi returns to the emergency department because she is short of breath. This has developed over the past 2 months. On examination, she is short of breath, quite jaundiced and her liver is now clearly enlarged (8 cm below the costal margin). There are no other specific findings

What might be the causes for her shortness of breath? What further information might you want?

Tutorial 2 Page 4 An abdominal ultrasound shows a uniformly enlarged liver. There are no other abnormalities. Laboratory tests show the following: Alkaline phosphatase Alanine aminotrasferase Serum proteins Serum electrophoresis Albumin Alpha 1 Alpha 2 Beta Gamma 250 u/L 60 u/L 72 g/L 44 g/L 0.5 g/L 7 g/L 9 g/L 12 g/L N (145-320 u/L) N (5-45 u/L) N (55-80g/L) N (35-55 g/L) N (2-4 g/L) N (5-9 g/L) N (6-11 g/L) N (7-17 g/L)

The internist tells you that Fifi will need a liver biopsy to make a diagnosis. PAS Stain of the hepatocytes shows following result.

What does this information tell you and will it change your hypothesis? On the basis of the biopsy, what is your most likely diagnosis? What are the metabolic mechanisms that may be responsible? What further information might you want to explain the cause?

Tutorial 3 Review the Learning Issues Page 5 A serum protein electrophoresis is done and shows that Fifi has the mutant Z variation of alpha1-antitrypsin. The pediatrician advises the family that all members should be tested for alpha1antitrypsin deficiency and that they are at high risk for further lung problems. He advises them not to smoke and to avoid closed rooms where others are smoking. What might be the possible causes of her genetic abnormality?

Tutorial 3 Page 6 Epilogue Fifis father agrees to stop smoking and no one is allowed to smoke in the house. Fifi does well and has no evidence of respiratory infection over the next 3 years.