MosaicED Brain Teaser!
An 18 month old girl is brought in by his parents because she has had 2 weeks or pale runny stools. Her abdomen looks distended and you notice some wasting in her buttock. She was a normal gestation and delivery and her developmental milestones were normal, until a month ago. In the last month her growth has slowed. You notice this rash on her arm.
What gene/s are associate with the disease described?
- A-ATG16L1, IRGM, and NOD2
- B-BRCA1 and BRCA2
- D-HLA-DQ1 and HLA-DQ8
- G-PKD1, PKD2, and PKHD1
Answers:D-HLA-DQ2 and HLA-DQ8. The disease described is Coeliac's disease. In a child it presents with abdominal distension, buttock wasting, diarrhea, and pale stools. It is associated with other auto immune conditions, down's and turner's syndrome, and is common in people with Irish heritage. Once diagnosed all immediate family members should be tested. Anti bodies to test for: anti-transglutimase antibodies (tTG), quantitative immunoglobulin A (IgA), Deamidated gliadin peptide (DGP). Gastroscopy will show villous atrophy and crypt hyperplasia, it is the gold standard. Treatment is gluten avoidance, which means avoiding wheat, barley, rye and oats (if your in a country that processes oats in the same factories as wheat and barley, eg Australia).
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