Nifedipine in Congenital Hyperinsulinism-A Case Report
نویسندگان
چکیده
منابع مشابه
Nifedipine 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 کاملA 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 کامل[Congenital hyperinsulinism of the newborn: a case report].
Congenital hyperinsulinism (CH) is the most frequent cause of persistent hypoglycemia in the newborn and it is characterized by an inappropriately elevated insulin level in presence of hypoglycemia. Initial management is medical treatment, but if it fails, partial pancreatectomy is the surgical procedure of choice. OBJECTIVE To report a case of a newborn with CH to aware on this condition and...
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 کاملCongenital Hemangiopericytoma: A Case Report
Hemangiopericytoma is a rare vascular tumor observed mostly in adults. It usually presents with a painless slowly enlarging mass. The infantile type with much rarer occurrence has a different course compared to adults. Very few case reports have been described in the literature with disease onset in the infancy. The first reported case of infantile hemangiopericytoma of limbs from the Middle ...
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ژورنال
عنوان ژورنال: Journal of Clinical Research in Pediatric Endocrinology
سال: 2015
ISSN: 1308-5727
DOI: 10.4274/jcrpe.1978