True about cystic fibrosis

A. The underlying defect in sodium channel function

B. The immune reactive trypsin (I) may be checked on the Guthrie card

C. In most cases the gene c defect is a loss of Valine at position 508 on chromosome 7

D. A sweat test with a sodium content above 40 mmol/l is diagnos c

Correct Answer: The immune reactive trypsin (I) may be checked on the Guthrie card

Description: The immune reactive trypsin (I), used in diagnosis of those under 3 months can be checked on the Guthrie card. The sweat sodium concentrate on is the definitive test and this is diagnostic if on two tests the sodium is above 60mmol/l. False positive sweat tests are seen in Ectodermal Dysplasia.

Category: Pathology

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