Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2006) 11 P356

ECE2006 Poster Presentations Diabetes, metabolism and cardiovascular (174 abstracts)

Noninsulinoma pancreatogenous hypoglycaemia syndrome (NIPHS) caused by an activating glucokinase mutation

HBT Christesen 1 , K Brusgaard 2 , H Beck-Nielsen 3 , J Malec 1 & B Brock Jacobsen 1


1Odense University Hospital, Dept. of Paediatrics, Odense, Denmark; 2Odense University Hospital, Dept of Clinical Genetics, Odense, Denmark; 3Odense University Hospital, Dept. of Endocrinology, Odense, Denmark.

NIPHS is a rare cause of adult onset hyperinsulinaemic hypoglycaemia with islet hypertrophy/nesidioblastosis, but without mutations in the ABBC8 and KCNJ11 genes coding for the beta cell KATP-channel subunits SUR1 and Kir6.2. NIPHS patients with GCK mutations have never been described.

We report of a 42-y-old woman with asymptomatic hypoglycaemia down to 2.9 mmol/l with simultaneous p-insulin 208 pmol/l (12–77 pmol/l), p-C-peptide 1574 pmol/l (130–760 pmol/l), p-proinsulin 88 pmol/l (2–23 pmol/l), (normal ranges at euglycaemia in brackets by Delphia method).

Her son had congential hyperinsulinism with remission at the age of 8 months, but relaps at age 14 y treated with diazoxide, thiazide and octreotide up to the actual age of 20.

No insulinoma was detected. ABBC8 and KCNJ11 genetic analysis was normal. In the glucokinase gene, however, a novel activating mutation, A456V, was found in the mother and child. Functional mutation analysis showed a left shift of the glucose dependency curve (in contrast to MODY 2). After 5 years of asymptomatic hyperinsuliniaemic hypoglycaemia without treatment, the mother had an attack of convulsions and unconsciousness during a slimming diet. Blood glucose was 3.2 mmol/l on admission. Treatment with diazoxide and thiazide was commenced.

During a slimming diet, the 24 y-old daughter of the mother’s brother had an accident and was found hypoglycaemic, 2.7 mmol/l, with a simultaneous increased p-insulin of 88 pmol/l and p-C-peptide, 1014 pmol/l. After a) 6 h fasting; and b) 3½ h after an OGTT, she had hypoglycaemic symptoms and a blood glucose of a) 1.6 mmol/l; and b) 1.9 mmol/l. She also had the GCK mutation A456V and responded to octreotide treatment.

Conclusion: NIPHS due to an activating GCK mutation was demonstrated in 3 family members with an onset ranging from the neonatal period to 47 years of age. NIPHS-GCK has so far been medical responsive.

Volume 11

8th European Congress of Endocrinology incorporating the British Endocrine Societies

European Society of Endocrinology 
British Endocrine Societies 

Browse other volumes

Article tools

My recent searches

No recent searches.