نتایج جستجو برای: congenital hyperinsulinism
تعداد نتایج: 124753 فیلتر نتایج به سال:
Brief Summary: This is a single case report describing possible new candidate gene (ADCY7) for congenital hyperinsulinism. Mutations in the ADCY7 may be cause of hyperinsulinism but more cases are needed and molecular mechanisms studied detail.
BACKGROUND Congenital hyperinsulinism leads to unregulated insulin secretion and hypoglycemia. Diagnosis can be difficult and genetic testing may be warranted. CASE This patient initially presented at 11 months with seizure activity secondary to severe hypoglycemia. Her diagnostic evaluation included genetic studies, which confirmed congenital hyperinsulinism. A novel combination of mutations...
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...
OBJECTIVE To describe the long-term metabolic outcome of children with congenital hyperinsulinism after near-total or partial elective pancreatectomy. RESEARCH DESIGN AND METHODS Patients (n = 105: 58 diffuse and 47 focal congenital hyperinsulinism) received operations between 1984 and 2006. Follow-up consisted of periodic measurements of pre- and postprandial plasma glucose over 24 h, OGTT, ...
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...
Abstract Our case describes the reintroduction of diazoxide despite life-threatening pulmonary hypertension in our infant due to lack therapeutic options for congenital hyperinsulinism.
Congenital hyperinsulinism is a rare disorder can be associated with serious brain damage and neurodevelopmental delay in neonates. This disorder is an uncommon cause of neonatal hypoglycemia and most of the affected newborns are results of term pregnancies. In this paper, we report a case of persistent hypoglycemia due to congenital hyperinsulinism in a preterm neonate who also had hypertrophi...
Hyperinsulinemic hypoglycemia (HH) is a consequence of unregulated insulin secretion by pancreatic b-cells. Congenital HH is caused by mutations in genes involved in regulation of insulin secretion (ABCC8, KCNJ11, GLUD1, CGK, HADH, SLC16A1, HNF4A and UCP2). Severe forms of congenital HH are caused by inactivating mutations in ABCC8 and KCNJ11, which encode the two components of the pancreatic b...
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