fms1 week 1 2013 student case (1)

7/27/2019 FMS1 Week 1 2013 Student Case (1)

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FMS 1 - 2013

WEEK 1: Fifi

TUTOR GUIDE

Pelita Harapan University


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FMS 1 Block

Student case:Tutorial 1Page 1

You are a student in Semester 8 and working in the pediatric outpatients. You areasked to see Fifi. She is 2 years old and is brought to the clinic by mother becauseshe was feeling unwell. About 4 months ago her mother noticed her eyes were yellowand 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?


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Tutorial 1Page 2

When you examine Fifi, you note her eyes and skin are yellow. Her generalexamination is otherwise unremarkable.When you examine her abdomen, it is not tender but you think her liver is palpable 5cm 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?


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Tutorial 2

Review the Learning Issues

Tutorial 2Page 3

Two years later, Fifi returns to the emergency department because she is short ofbreath. This has developed over the past 2 months.On examination, she is short of breath, quite jaundiced and her liver is now clearlyenlarged (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?


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Tutorial 2Page 4

An abdominal ultrasound shows a uniformly enlarged liver. There are no other

abnormalities.

Laboratory tests show the following:

Alkaline phosphatase 250 u/L N (145-320 u/L)Alanine aminotrasferase 60 u/L N (5-45 u/L)Serum proteins 72 g/L N (55-80g/L)Serum electrophoresis

Albumin 44 g/L N (35-55 g/L)Alpha 1 0.5 g/L N (2-4 g/L)Alpha 2 7 g/L N (5-9 g/L)

Beta 9 g/L N (6-11 g/L)Gamma 12 g/L N (7-17 g/L)

The internist tells you that Fifi will need a liver biopsy to make a diagnosis. PAS Stainof 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?


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Tutorial 3

Review the Learning Issues

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A serum protein electrophoresis is done and shows that Fifi has the mutant Zvariation of alpha1-antitrypsin.

The pediatrician advises the family that all members should be tested for alpha1-antitrypsin deficiency and that they are at high risk for further lung problems. Headvises them not to smoke and to avoid closed rooms where others are smoking.

What might be the possible causes of her genetic abnormality?


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Tutorial 3Page 6

Epilogue

Fifis father agrees to stop smoking and no one is allowed to smoke in the house. Fifidoes well and has no evidence of respiratory infection over the next 3 years.

fms1 week 1 2013 student case (1)

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