糖代谢异常罕见病的分类及诊疗现状

黄雨蒙; 刘铭

doi:10.12376/j.issn.2097-0501.2023.03.002

糖代谢异常罕见病的分类及诊疗现状

doi: 10.12376/j.issn.2097-0501.2023.03.002

黄雨蒙,
刘铭^,

天津医科大学总医院内分泌代谢科，天津 300052

基金项目:

国家重点研发计划 2019YFA0802502

国家重点研发计划 2022YFE0131400

国家自然科学基金 82220108014

国家自然科学基金 82270864

详细信息

通信作者:
刘铭，E-mail：mingliu@tmu.edu.cn

中图分类号: R589
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- 被引次数: 0
出版历程
- 收稿日期: 2023-04-28
- 录用日期: 2023-06-11

Classification, Diagnosis and Management Status of Carbohydrate Metabolic Rare Disorders

HUANG Yumeng,
LIU Ming^,

Department of Endocrinology and Metabolism, Tianjin Medical University General Hospital, Tianjin 300052, China

Funding:

The National Key Research and Development Program of China 2019YFA0802502

The National Key Research and Development Program of China 2022YFE0131400

National Natural Science Foundation of China 82220108014

National Natural Science Foundation of China 82270864

More Information

Corresponding author: LIU Ming, Email: mingliu@tmu.edu.cn

摘要

摘要: 30%~40%的罕见病与内分泌代谢系统相关，其中糖代谢异常疾病占有重要的比例。糖代谢异常罕见病往往发生隐匿，其临床症状与常见病存在重叠，易被误诊误治。糖代谢异常罕见病的诊疗是临床上的难点，简单可行的筛检模型、对特异性临床表型和生化改变的识别、正确运用和解读基因测序是提高诊断效率的关键。目前对于多数糖代谢异常罕见病尚缺乏具有针对性的有效治疗方法，仍以对症治疗为主。基于精准诊断后的靶向和基因治疗是糖代谢异常罕见病未来研发的方向。本文基于病因对糖代谢异常罕见病进行分类，并对其诊断和治疗现状进行分析、探讨和展望。
- 糖代谢异常 /
- 分类 /
- 精准诊疗 /
- 罕见病
Abstract: Approximately 30%-40% of rare diseases are related to the endocrine and metabolic system, and abnormal metabolism of carbohydrate accounts for a significant proportion among others. Carbohydrate metabolic rare disorders often develop insidiously. The clinical symptoms of these disorders sometimes overlap with common diseases. Therefore, delayed diagnosis, misdiagnosis, and mismanagement happen often. The diagnosis and treatment of carbohydrate metabolic rare disorders is usually difficult in clinical practice. Efficient and practical screening models, identification of specific clinical features and biochemical changes, and genomic sequencing are critical to improve diagnostic efficiency. Most carbohydrate metabolic rare disorders are still lack in effective and targeted therapies. So, the symptomatic treatment is still main practice. The targeted medications and gene therapies based on precision diagnosis are directions for the diagnosis and management of rare disorders of carbohydrate metabolism in the future. In this paper, we classify the carbohydrate metabolic rare disorders based on their causes. We also discuss the current status and prospective of diagnosis and management of those diseases.
- carbohydrate metabolic disorders /
- classification /
- precision medicine /
- rare diseases
注释:

作者贡献：黄雨蒙负责文章撰写; 刘铭负责文章审核。

利益冲突：所有作者均声明不存在利益冲突。

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表 1 罕见病因所致糖代谢异常的分类

Table 1. Classification of abnormal carbohydrate metabolism associated with rare causes

临床表现	病因分类	疾病名称
高血糖	单基因糖尿病	青少年起病的成人型糖尿病、新生儿糖尿病、遗传综合征单基因糖尿病(Wolfram综合征、矮妖精貌综合征、脂肪萎缩性糖尿病、X连锁多内分泌腺病肠病伴免疫失调综合征等)
	合并糖尿病的遗传综合征	威廉姆斯综合征、Prader-Willi综合征、Bardet-Biedl综合征等
	罕见免疫介导性糖尿病	自身免疫性胰岛素受体病、POEMS综合征等
	其他内分泌激素异常所致的糖尿病	库欣综合征、生长激素瘤、嗜铬细胞瘤、胰高血糖素瘤等
低血糖	胰岛素介导的低血糖	胰岛素瘤、胰岛素细胞癌、非胰岛素瘤胰源性低血糖综合征、倾倒综合征、先天性高胰岛素性低血糖血症、胰岛素自身免疫综合征及自身免疫性胰岛素受体病等
	非胰岛素介导的低血糖	升糖激素不足(先天性肾上腺发育不良等)；非胰岛细胞肿瘤源性低血糖；先天性葡萄糖生成障碍(糖生成酶系缺乏、糖原分解酶缺陷、糖原储存障碍、糖异生酶缺陷等)；部分氨基酸代谢障碍疾病(瓜氨酸血症、异戊酸血症等)
糖类代谢产物蓄积		半乳糖血症、糖原累积病Ⅱ型、黏多糖贮积症等

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