ESPE Abstracts (2015) 84 WG2.3

Are Genetic Tests Necessary before Starting the Treatment of a Patient with Neonatal Diabetes? CON

Moshe Phillipa,b


aSchneider Children’s Medical Center of Israel, Petah Tikva, Israel; bSackler Faculty of Medicine, Tel-Aviv, Israel


Neonatal diabetes is defined by hyperglycemia either isolated or as a part of a syndrome, diagnosed within the first 6 months of life. This is a monogenic form of diabetes resulting from mutations in a number of different genes encoding proteins that play a key role in the normal function of the pancreatic β-cell. To date, over 20 genes have been identified in about 60–75% of cases. A significant breakthrough was the recognition that a large portion of patients can be treated with sulfonylurea instead of insulin. Those include the most common cases of sporadic neonatal diabetes caused by ATP-sensitive potassium channel mutations and sometimes other non-syndromic causes. This is an example of personalized genetic medicine where genetics is associated with long term prognosis (transient or permanent disease) and influences the choice of treatment (s.c. or oral). Nevertheless, genetic analysis is very costly and not available in all clinics. Furthermore, the laboratory testing may take time thus delaying the appropriate treatment for a large number of patients. Therefore, practical approach to treatment selection may be based initially on clinical judgment. That means, testing the clinical respond to p.o sulfonylurea shortly after diagnosis, even before genetic testing results are available. No damage will be done to those whose respond to p.o sulfonylurea will be tested, due to the safe profile of sulfonylurea (sulfonylurea is an ‘old’ medication, not expensive, well tolerated with few adverse events) and the continued treatment with insulin during the transition attempt. Early treatment with sulfonylurea has the advantages of improving metabolic control and reducing diabetes complications, reducing risk of hypoglycemia related to insulin treatment (especially important at this age), improving neurodevelopmental impairment that accompanies many cases of neonatal diabetes, improving quality of life and easy for use at this age, shortening hospitalization duration and reducing expenses. In summary, it seems that the benefits of early testing the response to sulfonylurea before the genetic testing outweighs the risks.

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