更新于：2024-11-01

6q24-Related Transient Neonatal Diabetes Mellitus

6q24暂时性新生儿糖尿病

更新于：2024-11-01

基本信息

别名

6q24-Related Transient Neonatal Diabetes Mellitus、6q24-Tndm、6q24相关的短暂性新生儿糖尿病

+ [2]

简介-

关联

项与 6q24暂时性新生儿糖尿病相关的药物

Glyburide

格列本脲

靶点

Kir6.2 x SUR1

作用机制

Kir6.2激动剂 [+1]

在研机构

原研机构

在研适应症

非在研适应症

最高研发阶段批准上市

首次获批国家/地区

中国

首次获批日期1981-01-01

100 项与 6q24暂时性新生儿糖尿病相关的临床结果

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100 项与 6q24暂时性新生儿糖尿病相关的转化医学

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0 项与 6q24暂时性新生儿糖尿病相关的专利（医药）

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项与 6q24暂时性新生儿糖尿病相关的文献（医药）

2024-09-17·Journal of pediatric endocrinology & metabolism : JPEM

The complexities of managing a newborn with 6q24 transient neonatal diabetes mellitus: a case report.

Article

作者: De Silva, Yannick ; Birt, Stewart

OBJECTIVESThis case report delves into the intricate management of a newborn with transient neonatal diabetes mellitus (TNDM), shedding light on the complexities and challenges in treatment decisions.CASE PRESENTATIONBorn prematurely with a low birth weight and a maternal background of gestational diabetes, the infant developed hyperglycaemia necessitating intravenous insulin therapy. Subsequent genetic testing confirmed 6q24-TNDM, due to the uniparental disomy of the whole of chromosome 6. Glibenclamide, a second-generation sulfonylurea, was cautiously introduced but discontinued due to adverse effects. Despite post-meal hyperglycaemia, blood glucose levels stabilised over subsequent weeks. Regular follow-ups demonstrated appropriate growth and development and the resolution of diabetes.CONCLUSIONSThis unique case highlights the need for multidisciplinary collaboration, tailored treatment strategies, and vigilant monitoring in managing 6q24-TNDM.

2024-02-01·American Journal of Medical Genetics Part A

A case of mosaic deletion of paternally‐inherited PLAGL1 and two cases of upd(6)mat add to evidence for PLAGL1 under‐expression as a cause of growth restriction

作者: Temple, I Karen ; Lim, Derek ; McMullan, Dominic ; Davies, Justin H ; Wright, Michael ; Gazdagh, Gabriella ; Alhendi, Ahmed S N ; Mackay, Deborah J G

AbstractPLAGL1 is one of a group of imprinted genes, whose altered expression causes imprinting disorders impacting growth, development, metabolism, and behavior. PLAGL1 over‐expression causes transient neonatal diabetes mellitus (TNDM type 1) and, based on murine models, under‐expression would be expected to cause growth restriction. However, only some reported individuals with upd(6)mat have growth restriction, giving rise to uncertainty about the role of PLAGL1 in human growth. Here we report three individuals investigated for growth restriction, two with upd(6)mat and one with a mosaic deletion of the paternally‐inherited allele of PLAGL1. These cases add to evidence of its involvement in pre‐ and early post‐natal human growth.

2021-01-01·Hormone Research in Paediatrics

Longitudinal Glycaemic Profiles during Remission in 6q24-Related Transient Neonatal Diabetes Mellitus

作者: Kodama, Hiroko ; Ogawa, Eishin ; Yorifuji, Tohru ; Takamiya, Kiyomi ; Sato, Yasuhiro ; Mimaki, Masakazu ; Enkai, Shigehiro ; Isojima, Tsuyoshi ; Motoyama, Kahoko

Introduction: Transient neonatal diabetes mellitus (TNDM) is a rare condition that is characterized by the presence of diabetes mellitus during the first 6 months of life and remission by 18 months of age. It usually relapses at a median age of 14 years. Hyperinsulinaemic hypoglycaemia is a relatively common complication during remission. Although β-cell function is reported to be impaired at relapse, the clinical course of glycaemic profiles during remission in patients with TNDM remains largely unknown. Case Presentation: Longitudinal glycaemic profiles were investigated annually from remission (185 days) to relapse (14.5 years) in a patient with TNDM due to paternal 6q24 duplication using the oral glucose tolerance test (glucose intake: 1.75 g/kg to a maximum of 75 g). The patient’s β-cell function and insulin sensitivity were assessed by calculating the insulinogenic index, homeostasis model assessment of β-cell function (HOMA-β), homeostasis model assessment of insulin resistance (HOMA-IR), quantitative insulin sensitivity check index, and Matsuda index. Early insulin response to glucose intake was impaired throughout remission, whereas fasting insulin and β-cell function by HOMA-β gradually increased in the first few years since remission, followed by a gradual decline in function. In contrast, HOMA-IR fluctuated and peaked at 6.5 years of age. Conclusion: This is the first report of annual longitudinal glycaemic profiles in a patient with 6q24-related TNDM during remission. We identified fluctuations in β-cell function and insulin resistance during remission.