Abstract
The autosomal recessive form of persistent hyperinsulinemic hypoglycemia of infancy (PHHI) is associated with mutations in either ABCC8 or KCNJ11 genes. In the present study, we describe the clinical features and results of genetic analysis of 13 Saudi Arabian patients with PHHI. Clinically, most patients presented with infantile seizures and/or developmental delay, with a subset of patients who were also found to have abnormal brain imaging and electrophysiological studies. Interestingly no coding pathogenic mutations were identified in these two genes by direct sequencing. However, two splice variants were identified in ABCC8 gene in two patients, and a large deletion of exons 1-22 of the ABCC8 gene was identified in three patients. Our data shows that large deletions in ABCC8 gene are the common genetic mechanism in the Saudi population.
Highlights
Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) (MIM# 256450), previously known as nesidioblastosis, is a disorder characterized by impaired suppression of pancreatic insulin secretion, resulting in hypoglycemia [1,2,3]
All patients were diagnosed with persistent hyperinsulinemic hypoglycemia of infancy (PHHI) according to the criteria mentioned in the introduction
Histological data was not done on patients of this study, which represents a possible future approach on PHHI studies in Saudi Arabia
Summary
Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) (MIM# 256450), previously known as nesidioblastosis, is a disorder characterized by impaired suppression of pancreatic insulin secretion, resulting in hypoglycemia [1,2,3]. PHHI presents clinically in neonates and infants less than one year of age with seizures and coma. Incidence of PHHI in Saudi Arabia has been estimated to be 1 in 2675, which is much higher than the internationally reported incidence of 1:50,000 [2,4,5,6]. PHHI is diagnosed clinically by having a glucose requirement more than 8mg/kg/min, having a glucagon response increasing glucose by more than 30 mg/dL, absent ketones and insulin:glucose more than 0.3 [1,2,7]. Therapy tends to fail especially in familial cases [2]
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