Familial Focal Congenital Hyperinsulinism | Zendy

Dunia Ismail | Zendy; Virpi V. Smith | Zendy; Pascale de Lonlay | Zendy; Maria-João Ribeiro | Zendy; Jacques Rahier | Zendy; Oliver Blankenstein | Zendy; Sarah E. Flanagan | Zendy; Christine BellannéChantelot | Zendy; Virginie Verkarre | Zendy; Y. Aigrain | Zendy; Agostino Pierro | Zendy; Sian Ellard | Zendy; Khalid Hussain | Zendy

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Familial Focal Congenital Hyperinsulinism

Author(s) -

Dunia Ismail,

Virpi V. Smith,

Pascale de Lonlay,

Maria-João Ribeiro,

Jacques Rahier,

Oliver Blankenstein,

Sarah E. Flanagan,

Christine BellannéChantelot,

Virginie Verkarre,

Y. Aigrain,

Agostino Pierro,

Sian Ellard,

Khalid Hussain

Publication year - 2010

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2010-1524

Subject(s) - congenital hyperinsulinism , proband , hypoglycemia , medicine , pancreas , positron emission tomography , hyperinsulinism , lesion , pathology , mutation , endocrinology , diabetes mellitus , radiology , genetics , biology , insulin resistance , gene

Congenital hyperinsulinism (CHI) is a cause of persistent hypoglycemia. Histologically, there are two subgroups, diffuse and focal. Focal CHI is a consequence of two independent events, inheritance of a paternal mutation in ABCC8/KCNJ11 and paternal uniparental isodisomy of chromosome 11p15 within the embryonic pancreas, leading to an imbalance in the expression of imprinted genes. The probability of both events occurring within siblings is rare.

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