A clinical case of congenital hyperinsulinism in an early child
نویسندگان
چکیده
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 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 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 کاملClinical practice guidelines for congenital hyperinsulinism
Congenital hyperinsulinism is a rare condition, and following recent advances in diagnosis and treatment, it was considered necessary to formulate evidence-based clinical practice guidelines reflecting the most recent progress, to guide the practice of neonatologists, pediatric endocrinologists, general pediatricians, and pediatric surgeons. These guidelines cover a range of aspects, including ...
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ژورنال
عنوان ژورنال: Medical Herald of the South of Russia
سال: 2020
ISSN: 2618-7876,2219-8075
DOI: 10.21886/2219-8075-2020-11-3-54-59