نتایج جستجو برای: hyperinsulinism
تعداد نتایج: 5435 فیلتر نتایج به سال:
Although the most common mechanism underlying congenital hyperinsulinism is dysfunction of the pancreatic ATP-sensitive potassium channel, the pathogenesis and genetic origins of this disease remains largely unexplained in more than half of all patients. UCP2 knockout mice exhibit an hyperinsulinemic hypoglycemia, suggesting an involvement of UCP2 in insulin secretion. However, a possible patho...
conclusions congenital hyperinsulinism can have different inheritance pattern. autosomal recessive inheritance is more common but less frequently autosomal dominant inheritance can be seen. it appears that mutations in abcc8 gene can show both autosomal recessive and autosomal dominant inheritance of the disease. pcr followed by sanger sequencing proved to be an efficient method for mutation de...
Hyperinsulinism in infancy is one of the most diYcult problems to manage in contemporary paediatric endocrinology. Although the diagnosis can usually be achieved without diYculty, it presents the paediatrician with formidable day to day management problems. Despite recent advances in understanding the pathophysiology of hyperinsulinism, the neurological outcome remains poor, and there is often ...
background: few cases of persistent hyperinsulinemic hypoglycemia of infancy (phhi) have been reported, so far. the main concern in the management of phhi is to prevent severe hypoglycemia, which can lead to coma, brain damage and mental retardation. total or subtotal pancreatectomy is normally required for the infants, despite the availability of medical therapies. case report: in this report,...
Mutations in the high-affinity sulfonylurea receptor (SUR)-1 cause one of the severe recessively inherited diffuse forms of congenital hyperinsulinism or, when associated with loss of heterozygosity, focal adenomatosis. We hypothesized that SUR1 mutations would render the beta-cell insensitive to sulfonylureas and to glucose. Stimulated insulin responses were compared among eight patients with ...
Abstract Our case describes the reintroduction of diazoxide despite life-threatening pulmonary hypertension in our infant due to lack therapeutic options for congenital hyperinsulinism.
BACKGROUND Hyperinsulinism-hyperammonemia syndrome is the second most common cause of congenital hyperinsulinism and is easily treated with diazoxide; however, the symptoms in our patient were very difficult to control with typical medical therapy. To the best of our knowledge, neither our patient's mutation, nor a case of hyperinsulinism-hyperammonemia presenting with dysmorphic features and i...
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