منابع مشابه
A Case Series: Congenital Hyperinsulinism
INTRODUCTION Congenital hyperinsulinism is a rare inherited disease caused by mutations in genes responsible for β-cell's function in glucose hemostasis leading to profound and recurrent hypoglycemia. The incidence of the disease is about 1 in 50000 newborns. Mutations in at least 8 genes have been reported to cause congenital hyperinsulinism. Mutations in ABCC8 gene are the most common cause o...
متن کاملa case series: congenital hyperinsulinism
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...
متن کاملShort term outcome of congenital hyperinsulinism: case series
Results Five infants were reported. Hypoglycaemic seizure was the commonest presenting feature. All had detectable insulin level (>5 mU/l) during hypoglycaemic episodes and high glucose requirement (>10 mg/kg/min). Three patients were found to have genetic mutation associated with CH. Patient 1 had hyperammonaemia hyperinsulinism syndrome and corresponded missense mutation of GLUD1 gene. For pa...
متن کاملNifedipine in Congenital Hyperinsulinism- A Case Report
Congenital hyperinsulinism (CHI) is the commonest cause of persistent hypoglycemia in neonates. Diazoxide is the first-line drug in its treatment, but the more severe cases are usually diazoxide-resistant. Recessive ABCC8 and KCNJ11 mutations are responsible for most (82%) of the severe diazoxide-unresponsive CHI. Oral nifedipine has been effective in isolated cases of CHI. Successful treatment...
متن کامل[Congenital hyperinsulinism].
In the last five years, our knowledge about the heterogenous syndrome of congenital hyperinsulinism (HI) has expanded explosively. HI may be familiar or sporadic, mild or severe, transitory or persistent, and histologically focal or diffuse. At least 63 disease-causing mutations have been found in the genes for the beta cell's ATP-dependent potassium channel, whose elements are the sulphonylure...
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ژورنال
عنوان ژورنال: International Journal of Endocrinology and Metabolism
سال: 2016
ISSN: 1726-913X,1726-9148
DOI: 10.5812/ijem.37311