November 10, 2000
Diagnosis and Symptoms, Genetics and Heredity
Question from Wausau, Wisconsin, USA:
I took my two year old son to another endocrinologist for a second opinion regarding his ketotic hypoglycemia, diagnosed seven months ago. He has also been showing sporadic high blood sugars in the 200-300 mg/dl [11.1-16.7 mmol/L] range. His A1c was 5.9% at the time of diagnosis and he tested negative for islet cell antibodies.
Diabetes is very prevalent on my side of the family so I still wonder if this could turn into diabetes. His seven year old sister was recently diagnosed with reactive hypoglycemia just this past week. When I took him to this other pediatric endocrinologist, he mentioned that, based on the test results of his hospital stay seven months ago, he would lean toward concurring with my son’s present endocrinologist in the diagnosis of ketotic hypoglycemia. However, my son is certainly displaying some blood sugars that would indicate a diabetes problem, but not having a positive antibody test, he would have to say that he doesn’t have diabetes yet. He also mentioned that my son was showing signs of some other rare disorder, but wouldn’t say what it was, as it is so rare that he didn’t think my son could have it, and he didn’t want to cause me any “undue” stress.
Bottom line: he said was that my son’s labs were showing signs of three different disorders: one being this rare disorder that he wouldn’t mention; two, ketotic hypoglycemia; three would be diabetes. Out of the three, he said he would have drawn the same conclusions as my son’s regular endocrinologist as the test results seem to indicate ketotic hypoglycemia. He performed another antibody test which also came back normal. Is the other disorder he mentioned called Nesidioblastosis? Did he do everything he should have done to make sure that this is ruled out? He did say that the endocrinologist who ordered all the tests when my son was 17 months old (I found my son in a coma like state with a blood sugar of 35 mg/dl [1.9 mmol/L] which later was up to 488 mg/dl [27.1 mmol/L] after being given 1 teaspoon of sugar water through the IV) did all the right things and ordered all the right tests.
At this time, I am considering having myself and my three children participate in the national DPT-1. My brother passed away from type�1 complications more than seven years ago. Now that my children are having problems with their blood sugar levels, I am becoming quite concerned. Is there some thought to whether these problems with my children are genetic? Do they tie together in some way? Will I have to worry about my 12 year old developing any of these things? How serious are the hypoglycemic conditions I’ve mentioned?
Answer:
I am sure that you will understand that it is difficult to contribute to a confusing story like yours through e-mail and without much more access to the clinical histories and laboratory reports. First of all it, is very unlikely that there could be three different forms of hypoglycemia in one family, but here are some ideas to discuss with the endocrinologist:
Type�1Aor autoimmune diabetes very seldom presents with hypoglycemia at any age, although it is sometimes seen in young adults. The negative ICA test almost rules it out completely, but it would still be worth finding out if this was the older immuno-histological test or the newer immunoassay which usually includes three antibodies (IAA, anti-GAD and anti-ICA512). If these were negative and your son is of Caucasian descent then type 1A diabetes, the most common form in childhood, is very unlikely.
Reactive hypoglycemia too is most uncommon in children, although it has been reported. Aside from the variant that is sometimes seen in diabetes, there is another form in which both insulin and glucagon seem to respond abnormally to a glucose load. Typically, this happens sometime after meals and is treated by reducing the sugar in meals and substituting proteins. Acarbose [Precose, a pill for Type 2 diabetes] is sometimes a help too. So it would be important to know if a dietary approach was helping in your daughter’s case.
Ketotic hypoglycemia, on the other hand, is fairly common in little children and is generally thought to be a response to appetite induced carbohydrate deprivation. As a result, fat stores are used as the energy source and this leads to ketone production. It can sometimes lead to seizures and unconsciousness. The underlying cause is not well understood, although one explanation is that this is often seen in children who have a rather small muscle mass and have an immaturity in the ability to release protein for conversion into sugar. Again an increase in the amount of protein in the diet is indicated, but simple carbohydrates do not precipitate the hypoglycemia as in the reactive form. The high blood sugars that you have occasionally found are almost certainly due to the surge of counterregulatory hormones induced by an abnormally low blood sugar and not to any form of diabetes.
Finally, if the problem with your little son neither responds to dietary treatment nor resolves spontaneously, then, as the second endocrinologist pointed out, there are some rare disorders of metabolism that need to be considered and evaluated with the help of a specialist laboratory.
DOB
