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July 18, 2008

Diagnosis and Symptoms

Question from Saint Robert, Missouri, USA:

I'm searching for any ideas you may have about my son's particular case of type 1. His pediatric endocrinologist said he'd never seen a case like my son's. At the age of 27 months, in September 2007, my son was diagnosed with type 1 after polyuria and extreme thirst for a week. His blood sugar was 1055 mg/dl [58.6 mmol/L] and he had medium to large ketones. He was still conscious but very cranky. The helicopter nurse told me he had fantastic pH given other symptoms. His GAD test was negative and he had a 61% (so I was told) positive insulin antibody. His A1c was 9%. Recently, his GAD test was negative, ICA test was negative and he was positive for insulin antibodies ((20.5 U/ml). MODY1 variants found on HNF4A. One is considered benign; the other is unknown, but the laboratory believes it is benign. He takes around eight total units of insulin per day and his latest A1c was 6.7% Any thoughts as to what type of diabetes my son may have? Our endocrinologist says we may never know. I'm trying to find out what therapies are available to him now and in the future. Any thoughts about his case, including other tests to run, anything unusual, somewhere to research, alternative therapies, etc. would be GREATLY appreciated.

Answer:

It sounds like fairly typical new onset diabetes in a young child. I don’t know to what your helicopter nurse was referring. It also sounds like you are doing a good job with his current treatment and have also looked into variant types of diabetes in the very young. If the testing were done in a reputable genetic laboratory or a research laboratory, then this all seems like non-monogenic type 1 autoimmune diabetes from your description. Goals should be to maximize glucose control and minimize hypoglycemia and, usually, this is accomplished either with multidose insulin regimens using prandial insulin analogs (Humalog or NovoLog) plus basal insulin analogs (i.e., Levemir or Lantus twice or once-a-day). All decisions in our center are based upon blood glucose profile data and no dogma geared toward optimal A1c levels and least hypoglycemia. Insulin pumps are another excellent way to deliver insulin for such youngsters for improved flexibility and reduced hypoglycemia. You may want to read the article I recently wrote, “Type 1 diabetes mellitus in the very young child” in Evidence Based Paediatric and Adolescent Diabetes, Allgrove J, Swift PGF, Greene S (eds) 2007, Oxford, UK: Blackwell Publishing, BMJ Books, 63-75.

SB