Answer to PhotoQuiz 33 |
Hereditary Angioedema (OMIM # 106100) |
Hereditary angioedema is an autosomal dominant disorder characterized by episodic localized
subcutaneous edema and submucosal edema involving mainly the upper respiratory and
gastrointestinal tracts. The classic form of the disorder is caused by a mutation in the C1NH gene
(OMIM *606860), which codes for the complement component 1 inhibitor. There are two forms of
the classic disorder, both of which are clinically indistinguishable, but are differentiated by the
serum levels of C1NH. In type I there is a deficiency of the serum levels of C1NH (less than 35% of
normal) and in type II, the serum C1NH levels are normal or elevated, but the protein is nonfunctional.
Another type of hereditary angioedema, HAE type III (OMIM # 610618), is caused by
mutation in the F12 gene (OMIM *610619) which codes for coagulation factor XII.. |
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Correct responses were given by: |
1. G Aruna, Vellore |
2. Ravindra Chabra, Indore |
3. Diksha Shirodkar, Goa |
4. Ashish Gupta, New Delhi |
5. Poonam Singh Gambhir, Lucknow |
6. Prashant Kumar Verma, Agra |
7. Mohandas Nair, Calicut |
8. Jagadish Bhat, Goa |
9. J L Kulkarni, Mumbai |
10. Bharti Singh, Lucknow |
11. Manpreet Kaur, Gurgaon |
12. Jai Prakash Soni, Jodhpur |
13. Ravi Goyal, Kota (Rajasthan) |
14. Vikas Katewa, Jodhpur |
15. Beena Suresh, Chennai |