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Answering an Immunogenetics Question    

by Diabetes Research Institute on Tuesday, March 29, 2011 at 2:20pm on Diabetes Research Institute.

Alberto Pugliese, MD, Head of DRI's Immunogenetics Program, answers a question for a Facebook friend.

Question: thanks for the info on c-peptides... perhaps you can help me with this... although not as easy or straight forward as c-peptides.... we are struggling with getting a for sure diagnosis for our 4yr old son, he was 12 months when diagnosed with t1, in DKA at diagnosis, insulin dependent with two events over the past 3 years where he went...t 2+ days without insulin, high insulin sensitivity (350/1), negative for all auto-antibodies, c-peptide less than 1, negative for MODY (not even sure why he was tested for that) doesn’t fit PNDM enough to test, but endo and everyone else is sure its not autoimmune t1, but no one has mentioned other tests... my real question here is... is there a next step, or am I left in the dark not knowing or understanding why my son isn't producing insulin?c-peptide less than 1, negative for MODY (not even sure why he was tested for that) doesnt fit PNDM enough to test, but endo and everyone else is sure its not autoimmune t1, but no one has mentioned other tests... my real question here is... is there a next step, or am I left in the dark not knowing or understanding why my son isn't producing insulin?c-peptide less than 1, negative for MODY (not even sure why he was tested for that) doesnt fit PNDM enough to test, but endo and everyone else is sure its not autoimmune t1, but no one has mentioned other tests... my real question here is... is there a next step, or am I left in the dark not knowing or understanding why my son isn't producing insulin?

Answer: It’s hard to know based on this info.  Does negative for all autoantibodies mean the child has been tested for ZnT8 autoantibodies as well?  Nonetheless it could be too late and all autoantibodies may be negative. If they have not tested for ZnT8 we could do it. From the genetic stand point it could help looking at HLA, to see if the child has the T1D types, but this would not prove T1D. Another possibility is a monogenic form of diabetes, like a form of PNDM, an age of onset of 12 months is still pretty young. While most cases are diagnosed by 6 months, there are later cases. There are several mutations that have been identified. Among these the most important mutations to test for are those for the potassium channel genes (Kir6.2 and SUR1) since patients with these mutations respond to sulfonylureas. I wrote a review/commentary about 2 years ago that talks about this (attached). Otherwise therapy should be guided by clinical course.


 



 

 

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