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| 儿童激素耐药型肾病综合征基因检测临床实践指南 ( 2024 版) 计划书 |
| 程雪婷,韩雪,陈家欢,杨雪影,陈汉,杨宝辉,余心逸,李秋,阳海平 |
|
|
| (重庆医科大学附属儿童医院,国家儿童健康与疾病临床医学研究中心,儿童发育疾病研究教育部重点实验室,儿童代谢与炎症性疾病重庆市重点实验室,重庆 401122) |
|
| 摘要: |
| 随着基因测序技术的发展,在儿童激素耐药型肾病综合征(SRNS)中,目前有 10% ~30%的 SRNS 儿童被诊断为单基因致病。 国际儿科肾脏病学会(IPNA)推荐临床医师把基因检测作为 SRNS 患者的重要诊断手段,为了推进基因检测在儿童 SRNS临床实践应用中的标准化和规范化,在国家重点研发计划与重庆市科卫联合医学科研项目资助下,由国家儿童健康与疾病临床医学研究中心(重庆医科大学附属儿童医院)牵头,联合国内儿童肾脏、遗传等各个领域专家,共同发起制订《儿童激素耐药型肾病综合征基因检测临床实践指南(2024 版)》。 计划书主要报告该指南制订的意义、目的、工作组的构建、临床问题的确定、证据的检索与评价以及推荐意见共识的产生等过程。 |
| 关键词: 激素耐药型肾病综合征 基因检测 儿童 指南 计划书 |
| DOI：10.13407/j.cnki.jpp.1672-108X.2024.09.001 |
|
| 基金项目:国家重点研发计划-其他专项(生育健康及妇女儿童健康保障),编号 2022YFC2705101;重庆市科卫联合医学科研项目-医学科技创新公关工程项目(儿童肾小球疾病精准诊治与综合防控关键技术研究),编号 2023GGXM001。 |
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| ProtocolofClinicalPracticeGuidelinesforGeneticTestingofSteroid-ResistantNephroticSyndromeinChildren(2024Edition) |
| Cheng Xueting,Han Xue,Chen Jiahuan,Yang Xueying,Chen Han,Yang Baohui,Yu Xinyi,Li Qiu,Yang Haiping |
| (Children’ s
Hospital
of
Chongqing
Medical
University,
National
Clinical
Research
Center
for
Child
Health
and
Disorders,
Ministry
of
Education
Key
Laboratory
of
Child
Development,
Chongqing
Key
Laboratory
of
Pediatric
Metabolism
and
Inflammatory
Disease,
Chongqing 401122,
China) |
| Abstract: |
| With
the
development
of
gene
sequencing
technology,
in
pediatric
steroid-resistant
nephrotic
syndrome
(SRNS),
10%
to
30%
of
children
with
SRNS
are
diagnosed
with
monogenic
disease.
The
International
Pediatric
Nephrology
Association
( IPNA)
recommends
clinicians
to
use
genetic
testing
as
important
diagnostic
tool
for
children
with
SRNS.
In
order
to
promote
the
standardization
and
normalization
of
application
of
genetic
testing
in
the
clinical
practice
of
SRNS
in
children,
under
the
funding
of
the
National
Key
Research
and
Development
Program
and
the
Chongqing
Medical
Scientific
Research
Project
( Joint
Project
of
Chongqing
Health
Commission
and
Science
and
Technology
Bureau),
with
the
collaboration
of
national
experts
on
pediatric
kidney,
genetics
and
other
fields,
the
National
Clinical
Research
Center
for
Child
Health
and
Disorders
(Children’ s
Hospital
of
Chongqing
Medical
University)
took
the
lead
in
initiating
the
development
of
the
Protocol
of
Clinical
Practice
Guidelines
for
Genetic
Testing
of
Steroid-Resistant
Nephrotic
Syndrome
in
Children
(2024
Edition).
This
protocol
mainly
introduces
the
significance
and
purpose
of
the
guideline,
workgroup
composition,
identification
of
clinical
issues,
the
development
of
retrieval
and
assessment
in
evidence,
consensus
of
recommendations. |
| Key words: steroid-resistant
nephrotic
syndrome genetic
testing children guidelines protocol |
