Diagnosing Congenital Hyperinsulinism скачать в хорошем качестве

Diagnosing Congenital Hyperinsulinism

Julie Raskin, Executive Director of Congenital Hyperinsulinism International (CHI) explains how congenital hyperinsulism is diagnosed and the latest research is underway to improve how it is diagnosed and understood. Congenital hyperinsulinism occurs in approximately 1/25,000 to 1/50,000 births. In this disease, the pancreas does not respond properly to blood glucose level and makes insulin independent of the blood glucose concentration. As a result, the baby or child with congenital hyperinsulinism can develop hypoglycemia at any time but particularly when fasting. Approximately 60% of babies with congenital hyperinsulinism develop hypoglycemia during the first month of life and it can take a dramatic episode or a serious of appointments before the baby is properly diagnosed. Raskin said, “unlike many diseases where there's newborn screening, there isn't for our disease. There isn't a biomarker for it. When it's discovered that a baby has low blood sugar or hypoglycemia, that's the beginning of the diagnostic journey and then taking insulin levels and then there's a test whether or not the baby responds to glucagon. If a glucagon injection will raise blood sugar that indicates congenital hyperinsulinism.” Fortunately, research is underway to better understand this disease. Raskin noted several researchers have dedicated their professional lives to better understand this condition and that knowledge has paved the way for new treatment options in development. “Recently, there's a lot of interest from biotechs and there are a number of companies in clinical trials and some in preclinical studies.” For more information, visit congenitalhi.org/