Hyperinsulinemic hypoglycemias in infancy and childhood--diagnostic therapeutic algorithm with contribution of two cases.
Hypoglycemia is not an independent diagnosis. It is a pathophysiological syndrome whose cause needs to be identified. Identifying it is just the first step to making the diagnosis as precisely as possible and to preventing brain damage. Timely diagnosis and treatment are factors of paramount importance for the prognosis of affected patients. The aim of this study was to present two of our patients with hyperinsulinemic hypoglycemia because of the rarity of the condition and to propose a diagnostic-therapeutic algorithm of hypoglycemic syndrome in childhood. Identifying the genetic mutations using DNA analysis for both children enabled us to determine the prognosis and to provide genetic counseling about the next pregnancies in the affected families. We make a detailed classification of different types of hypoglycemia and the various therapeutic modalities: dietary, medicinal and surgical depending on the etiology. It is concluded that the highly specialized examinations which ensure the etiological diagnose, treatment, prognosis and genetic consultation demand the participation of a well trained medical team--both in the clinical division and in the laboratory.
Clinic of Pediatric and Genetic Diseases, St George University Hospital, Medical University, Plovdiv, Bulgaria.
Nartsis N
NN
Kaleva
Ivan S
IS
Ivanov
Margarita V
MV
Panova
Tatyana D
TD
Shabanova
Darina S
DS
Delgyanska
D000465:Algorithms; D003131:Combined Modality Therapy; D004252:DNA Mutational Analysis; D003981:Diazoxide / Q000627:therapeutic use; D004035:Diet Therapy; D005260:Female; D020022:Genetic Predisposition to Disease; D005947:Glucose / Q000008:administration & dosage; D006801:Humans; D006946:Hyperinsulinism / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D007003:Hypoglycemia / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D017354:Point Mutation; D013004:Somatostatin / Q000627:therapeutic use
D013004:Somatostatin; D005947:Glucose; D003981:Diazoxide