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Old 02-23-2011
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Liver What cause of this heritable condition?

A 58 year old woman presents with jaundice and joint pain. On physical examination, you notice mild ascites, edema, and splenomegaly. She appears hyperpigmented. A fasting blood sugar is 150. mg/dL. Which of the following explains the fundamental cause of this heritable condition?

A. the lack of transferrin within the hepatocyte
B. damage to mitochondria within the hepatocyte
C. underproduction of ferritin by hepatocytes
D. inadequate binding of transferrin to its receptor on intestinal cells
E. overproduction of ferritin by hepatocytes
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Old 02-23-2011
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Surely! it is hemochromatosis and i am looking for the answer that says over-absorption at intestinal level. Only Choice D.
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Old 02-23-2011
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D for sure...waiting for your xplanation aktorque
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Old 02-24-2011
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Yeah, uncontrolled absorption, sounds like D!
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Old 02-24-2011
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its D...i think
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Old 02-24-2011
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Quote:
Originally Posted by aktorque View Post
A 58 year old woman presents with jaundice and joint pain. On physical examination, you notice mild ascites, edema, and splenomegaly. She appears hyperpigmented. A fasting blood sugar is 150. mg/dL. Which of the following explains the fundamental cause of this heritable condition?

A. the lack of transferrin within the hepatocyte
B. damage to mitochondria within the hepatocyte
C. underproduction of ferritin by hepatocytes
D. inadequate binding of transferrin to its receptor on intestinal cells
E. overproduction of ferritin by hepatocytes
This is Hereditary Hemochromatosis. Normally, when there is little ferritin, the iron storage protein, is when HFE gene is activated leading to increased transferrin which is over expressed at gut level leading to increased iron absorption. In HFE gene mutation cause the condition, transferring level is perenially high thinking there is underproduction of ferritin and hence sustained increased Iron absorption.

Having said this, since the question asks the fundamental cause of this heritable condition, I am inclined to choose

C. underproduction of ferritin by hepatocytes - because probably this somehow affects increased transferring level and hence the disease.

Please correct wherever i am wrong.
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Old 02-24-2011
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Quote:
Originally Posted by donofitaly View Post
This is Hereditary Hemochromatosis. Normally, when there is little ferritin, the iron storage protein, is when HFE gene is activated leading to increased transferrin which is over expressed at gut level leading to increased iron absorption. In HFE gene mutation cause the condition, transferring level is perenially high thinking there is underproduction of ferritin and hence sustained increased Iron absorption.

Having said this, since the question asks the fundamental cause of this heritable condition, I am inclined to choose

C. underproduction of ferritin by hepatocytes - because probably this somehow affects increased transferring level and hence the disease.

Please correct wherever i am wrong.
The mutation is in HFE gene. The mutant thug goes mad, thinking there is low ferritin; but actually there is no low ferritin production by liver. It is all in the head of HFE. The paranoid drug addict! This is where the fundamental problem is: at the intestinal level.
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Old 02-24-2011
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Quote:
Originally Posted by pnreddy View Post
its D...i think
mmmm good qs. How about B. The problem is accummulation of iron in the liver with the generation of ROI leading to cirrhosis. I think this shd b happening in the mitochondria?
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Old 02-24-2011
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basic problem is after mutation ferritin can not bind to receptors after endocytosis in intestinal cell.. so cells cant sense that ferritin is already there.. so answer should be D
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Old 02-24-2011
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Arrow D) inadequate binding of transferrin to its receptor on intestinal cells

Correct answer is D) inadequate binding of transferrin to its receptor on intestinal cells

This is the classic "bronze diabetes," or primary hemochromatosis, which is caused by a defect in HFE (or hereditary hemochromatosis gene) which helps plasma transferrin to bind with its receptor on intestinal cells, where it is endocytosed. Defective HFE results in a buildup of iron in the liver, as well as other sites such as the pituitary, joints, heart, and skin. In women, symptoms may not present until after they stop losing iron through menstuation.

Once again, you all proved me your talent. Congrats guys... cheers!!!
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