Hyperinsulinemic Hypoglycemia, Familial, 1 (HHF1)

家族性高胰岛素血症性低血糖症(来自ICD-11)

别称:

Persistent Hyperinsulinemic Hypoglycemia of Infancy

Congenital Hyperinsulinism

Hhf1

Hyperinsulinemic Hypoglycemia Due to Focal Adenomatous Hyperplasia

Hyperinsulinism, Familial, with Pancreatic Nesidioblastosis

Autosomal Dominant Hyperinsulinism Due to Sur1 Deficiency

Familial Hyperinsulinemic Hypoglycemia 1

Nesidioblastosis of Pancreas

Hyperinsulinism, Congenital

Phhi

Hyperinsulinemic Hypoglycemia Due to Sur1 Deficiency, Diazoxide-Resistant Focal Form

Autosomal Recessive Hyperinsulinemic Hypoglycemia Due to Sur1 Deficiency

Autosomal Dominant Hyperinsulinemic Hypoglycemia Due to Sur1 Deficiency

Diazoxide-Resistant Focal Hyperinsulinism Due to Sur1 Deficiency

Autosomal Recessive Hyperinsulinism Due to Sur1 Deficiency

Hypoglycemia, Hyperinsulinemic, Familial, Type 1

Hypoglycemia, Hyperinsulinemic, of Infancy

Hyperinsulinemic Hypoglycemia of Infancy

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

高胰岛素血症家族性1型，也称为婴儿持续性高胰岛素血症，与高胰岛素血症家族性2型和高胰岛素血症有关。与高胰岛素血症家族性1型相关的基因是ABCC8（ATP结合盒C家族成员8），其相关通路/超级通路包括ECM蛋白聚糖和DNA损伤。在该疾病的背景下，奥曲肽和生长抑素已被提及。相关组织包括胰腺和胰岛，相关表型为高胰岛素血症和高胰岛素血症。

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