What's new in metabolic and genetic hypoglycaemias: diagnosis and management.
Hypoglycaemia in children can be a life-threatening situation that needs to be assessed rigorously in order to treat efficiently and avoid relapse that can be responsible for cerebral damage. The diagnosis of impairment in glucose homeostasis requires the knowledge of the mechanisms regulating blood glucose concentration. The clinical history and presentation, when available, especially the timing of hypoglycaemia with respect to the last meal and some simple clinical and biological tests may allow diagnosing the vast majority of patients presenting with hypoglycaemia. Recently, new metabolic and endocrinologic genetic causes of hypoglycaemia have been identified that may give new insight to the complex mechanisms of glucose regulation and thus contribute to the discovery of new genes regulating glucose homeostasis. New diagnostic tests such as the 18-fluoro-Dopa PET-scan have also been recently developed.
Valayannopoulos
Vassili
V
Metabolic Department and Reference Centre for Metabolic Diseases, Necker-Enfants Malades Hospital, 149, Rue des Sèvres, 75015 Paris, France, vassili.valaya@nck.aphp.fr
Romano
Stéphane
S
Mention
Karine
K
Vassault
Anne
A
Rabier
Daniel
D
Polak
Michel
M
Robert
Jean-Jacques
JJ
de Keyzer
Yves
Y
de Lonlay
Pascale
P
D002648:Child; D002675:Child, Preschool; D006801:Humans; D006946:Hyperinsulinism / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D007003:Hypoglycemia / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism* / Q000628:therapy; D007223:Infant; D007231:Infant, Newborn