A girl with permanent neonatal diabetes due to KCNJ11 mutation presented with Mauriac syndrome after improper adjustment in sulfonylurea dosage over 6 years

Author:

Chai-udom Rapeepun,Sahakitrungruang Taninee,Wacharasindhu Suttipong,Supornsilchai Vichit

Abstract

AbstractMauriac syndrome is characterized by growth impairment, Cushingoid features, and hepatomegaly in patients with poorly controlled type 1 diabetes mellitus (T1DM). We report a novel presentation of Mauriac syndrome in a 9-year-old girl who was diagnosed with neonatal diabetes at 3 months of age due to the p.R201C mutation in

Publisher

Walter de Gruyter GmbH

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Reference52 articles.

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3. No beta cell desensitisation after a median of 68 months on glibenclamide therapy in patients with KCNJ11-associated permanent neonatal diabetes;Diabetologia,2011

4. UKPDS 26: Sulphonylurea failure in non-insulin-dependent diabetic patients over six years. UK Prospective Diabetes Study (UKPDS) Group;Diabet Med,1998

5. Gros ventre, hepatomegalie, troubles de las croissance chez les enfants diabetiques traites depuis plesieus annes par l’insuline;Gaz Hebd Sci Med Bordeaux,1930

Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Rare Forms of Early Onset Diabetes;Neonatal and Early Onset Diabetes Mellitus;2023

2. Elevated lactate in Mauriac syndrome: still a mystery;BMC Endocrine Disorders;2021-08-21

3. Mauriac syndrome: An unusual presentation with portal fibrosis;La Presse Médicale;2019-06

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