Genetic characteristics and long-term follow-up of 11 patients with congenital hyperinsulinism followed in a single center.
BACKGROUND
Congenital hyperinsulinism (CHI) is a rare disease with an estimated incidence of 1:40,000 live births. Here, we characterize 11 patients treated at Munich Children's Hospital Schwabing.


METHODS
We analyzed data on birth, treatment and laboratory results including genetic testing and evaluated the long-term course with a follow-up visit.


RESULTS
All patients had severe, diazoxide-(DZX)-resistant hypoglycemia, beginning immediately after birth. Two patients were treated by medical therapy, eight underwent subtotal pancreatectomy and one had a partial resection. Both patients who had medical therapy still suffer from occasional hypoglycemia. Six patients with subtotal pancreatectomy were affected by mild hypoglycemia. Seventy-five percent of patients who had surgical treatment developed diabetes mellitus (DM) at a median age of 10.5 (8-13) years. In 89% of patients with available genetic testing, mutations of the ABCC8 gene were detected.


CONCLUSIONS
The majority of CHI-patients not responding to DZX underwent surgery. After subtotal pancreatectomy, patients typically developed diabetes around early puberty.
Katharina
K
Warncke
Franziska
F
Falco
Wolfgang
W
Rabl
Ilse
I
Engelsberger
Julia
J
Saier
David
D
Flores-Rodriguez
Stefan
S
Burdach
Walter
W
Bonfig
D000293:Adolescent; D000328:Adult; D015415:Biomarkers / Q000378:metabolism*; D002648:Child; D044903:Congenital Hyperinsulinism / Q000150:complications / Q000235:genetics*; D004252:DNA Mutational Analysis; D003920:Diabetes Mellitus / Q000188:drug therapy / Q000209:etiology*; D005260:Female; D005500:Follow-Up Studies; D020869:Gene Expression Profiling; D005820:Genetic Testing; D006801:Humans; D007003:Hypoglycemia / Q000188:drug therapy / Q000209:etiology*; D007328:Insulin / Q000097:blood; D008297:Male; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012189:Retrospective Studies; D064233:Sulfonylurea Receptors / Q000235:genetics*; D055815:Young Adult
C577507:ABCC8 protein, human; D015415:Biomarkers; D007328:Insulin; D064233:Sulfonylurea Receptors