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临床试验/NCT03519217
NCT03519217Unknown不适用

Diabetes Mellitus Under the Age of One Year: Clinical Pattern, Etiological Factors and Possible Mutation in KCJN11 Gene Encoding of Adenosine Tri-phosphate Sensitive Potassium Channel Gene ( Kir6.2).

Shimaa Kamal1 个研究点 分布在 1 个国家目标入组 60 人开始时间: 2020年6月5日最近更新:
适应症

试验速览

阶段
不适用
发起方
入组人数
60
试验地点
1
主要终点
Evaluate possible risk factors among diabetic infants

研究概览

简要总结

Diabetes mellitus is a group of metabolic diseases characterized by chronic hyperglycemia resulting from defects in insulin secretion, insulin action, or both.

详细描述

Infantile onset diabetes mellitus is not uncommon metabolic disorder in children, with rising in the incidence in the last few years. Infants with onset of diabetes mellitus at age less than one year are likely to have transient or permanent neonatal diabetes mellitus or rarely type one diabetes, all infants with onset of diabetes at less than one year of age need to undergo genetic evaluation for monogenic diabetes as is most commonly due to activating mutations in either of the genes encoding the two subunits of the adenosine tri-phosphate-sensitive potassium channel (potassium channel, inwardly rectifying subfamily J member 11 and adenosine tri-phosphate-binding cassette, sub-family C, member 8) as those patients will respond to therapy with sulphonylurea lead to good glycemic control and management of other comorbid factors. Evaluation with auto-immune antibodies may be warranted in infants with onset of diabetes in late infancy as the chances of type 1 diabetes presenting in late infancy has been reported in the literature.

Type 1 diabetes mellitus is one of the most common endocrine and metabolic conditions in childhood.

Data from large epidemiological studies worldwide indicate that on an annual basis, the overall increase in the incidence of type one diabetes is around three percent.

There is increase in incidence of type one diabetes mellitus throughout the world especially, marked in young children, Registries in Europe suggest that incidence of type one diabetes mellitus were highest in the youngest age-group (0-4 years).

The underlying pathophysiological mechanism of the disease is cellular-mediated autoimmune destruction of the pancreatic beta-cells.

研究设计

研究类型
Observational
观察模型
Case Only
时间视角
Cross Sectional

入排标准

年龄范围
2 Months 至 1 Year(Child)
性别
All
接受健康志愿者

入选标准

  • Diabetic patients with disease onset under the age of one year diagnosed according to American Diabetes Association criteria 2016 which include:
  • Fasting plasma glucose level at or above 7.0 mmol/L (126 mg/dl).
  • Plasma glucose at or above 11.1 mmol/L (200 mg/dl) two hours after a 1.75 gm/kg oral glucose load as in a glucose tolerance test.
  • Symptoms of hyperglycemia and random plasma glucose at or above 11.1 mmol/L 200 mg/dl).
  • Hemoglobin A1C at or above 48 mmol/mol.

排除标准

  • Diabetic children with the disease onset above the age of one year.
  • Infants with transient hyperglycemia.

结局指标

主要结局

Evaluate possible risk factors among diabetic infants

时间窗: within six months

Questionnaire to evaluate possible risk factors among diabetic infants

次要结局

  • Detection of gene mutation responsible for infantile diabetes through gene sequencing(within six months)

研究者

发起方
Shimaa Kamal
申办方类型
Other
责任方
Sponsor Investigator
主要研究者

Shimaa Kamal

Director, clinical research

Assiut University

研究点 (1)

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