>> HYPERINSULINISM IS
A CONGENITAL DISORDER OF REGULATION OF
INSULIN SECRETION. >> THE CELLS IN THE PANCREAS
THAT MAKE INSULIN CAN'T TURN THAT INSULIN OFF,
AND WHEN THAT HAPPENS, THE BLOOD SUGAR
BECOMES DANGEROUSLY LOW. >> BASICALLY IT'S THE
OPPOSITE TO DIABETES. CHILDREN THAT HAVE
HYPERINSULINISM PRODUCE TOO MUCH INSULIN AND THAT CAUSES
SEVERE LOW BLOOD GLUCOSE. >> BLOOD SUGAR
FEEDS THE BRAIN. AND IT'S WHAT OUR BODY
USES FOR ENERGY AS A WHOLE. >> SO WHEN YOU FEEL LOW BLOOD
SUGAR YOU MAY FEEL WEAK, YOU MAY FEEL
CONFUSED AND DISORIENTED, OR YOU MAY HAVE SEIZURES.
>> SO THAT PUTS THE BRAIN AT
HIGHER RISK FOR SUFFERING DAMAGE. >> THAT'S WHY IT'S SO
IMPORTANT TO DETECT WHEN INFANTS HAVE A LOW LEVEL
OF BLOOD SUGAR TO BE ABLE TO CORRECT IT AS
SOON AS POSSIBLE. >> THE LONGER IT TAKES UNTIL
DIAGNOSIS AND REFERRAL, THE HIGHER LIKELIHOOD
THAT THE CHILD WILL HAVE CATASTROPHIC CONSEQUENCES,
INCLUDING SEVERE BRAIN INJURY. >> AT THE CHILDREN'S
HOSPITAL OF PHILADELPHIA HYPERINSULINISM CENTER,
WE SEE APPROXIMATELY TWO-THIRDS OF ALL THE CASES THAT ARE
BORN IN THIS COUNTRY WITH HYPERINSULINISM.
>> ONCE A DIAGNOSIS OF
HYPERINSULINISM IS MADE, WE NEED TO EDUCATE FAMILIES
TO WHAT IS HYPERINSULINISM? WHAT CAN BE CAUSING
THE HYPERINSULINISM? AND HOW CAN WE TREAT
THE HYPERINSULINISM? >> THERE ARE TWO TYPES
OF HYPERINSULINISM. THERE'S A DIFFUSE FORM
AND THERE'S THE FOCAL FORM. >> WHEN THERE'S
DIFFUSE DISEASE, ALL OF THE INSULIN-SECRETING
CELLS IN THE PANCREAS ARE ABNORMAL, BUT WHEN
IT'S FOCAL DISEASE, A VERY SMALL CLUSTER OF
CELLS MEASURING PERHAPS LESS THAN ONE-QUARTER OF AN INCH
IN DIAMETER ARE ABNORMAL. >> SO FOCAL FORM REALLY MEANS
JUST PART OF THE PANCREAS IS AFFECTED AND ONCE THAT PART
THAT'S AFFECTED IS TAKEN OUT, IT'S CURABLE.
THE DISEASE IS CURABLE. FOR DIFFUSE, TYPICALLY THE
WHOLE PANCREAS IS AFFECTED. ALL THE BETA CELLS ARE
NOT FUNCTIONING PROPERLY AND THE BABIES NEED A NEAR
TOTAL PANCREATECTOMY OR 95 – 98 PERCENT OF THEIR
PANCREAS REMOVED. >> BY DOING GENETIC SCREENING
AND FINDING OUT WHAT GENE IS DEFECTIVE IN THESE CHILDREN
WE CAN VERY–WITH HIGH ACCURACY–DETERMINE WHO
HAS FOCAL HYPERINSULINISM AND WHO WOULD HAVE
DIFFUSE HYPERINSULINISM. >> WHEN WE START THINKING
ABOUT MEDICAL MANAGEMENT VERSUS SURGICAL MANAGEMENT
THE GENETICS PLAY AN IMPORTANT ROLE..
