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Case Report: Preservation of Reduced Numbers of Insulin-Positive Cells in Sulfonylurea-Unresponsive KCNJ11-related Diabetes
Author(s) -
Siri Atma W. Greeley,
Mark C. Zielinski,
Ananta Poudel,
Honggang Ye,
Shivani Berry,
Jerome B. Taxy,
David Carmody,
Donald F. Steiner,
Louis H. Philipson,
Jamie Wood,
Manami Hara
Publication year - 2016
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.2016-2826
Subject(s) - endocrinology , medicine , insulin , sulfonylurea , glucagon , pancreas , somatostatin , diabetes mellitus , enteroendocrine cell , pancreatic polypeptide , islet , endocrine system , cell , biology , hormone , biochemistry
The most common genetic cause of permanent neonatal diabetes mellitus is activating mutations in KCNJ11, which can usually be treated using oral sulfonylureas (SUs) instead of insulin injections, although some mutations are SU unresponsive. In this work, we provide a report of the pancreatic islet endocrine cell composition and area in a patient with an SU-unresponsive KCNJ11 mutation (p.G334D), in comparison with age-matched controls.

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