Evidence map›Paper›PMID 38605407›Full record

ArticleOrphanet journal of rare diseases2024

Clinical spectrum, over 12-year follow-up and experience of SGLT2 inhibitors treatment on patients with glycogen storage disease type Ib: a single-center retrospective study.

Yong-Xian Shao, Cui-Li Liang, Ya-Ying Su, Yun-Ting Lin, Zhi-Kun Lu, Rui-Zhu Lin, Zhi-Zi Zhou, Chun-Hua Zeng, Chun-Yan Tao, Zong-Cai Liu and 2 more

Open access · goldAbstract read
In one paragraph

Article in Orphanet journal of rare diseases, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
1.9field-weighted citation impact, top 15% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 1 synthesis or guideline pooled it, 4 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors at 2 institutions in 1 country.

Yong-Xian Shao *Department of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 510623, Guangzhou, China.
Cui-Li Liang *Department of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 510623, Guangzhou, China.
Ya-Ying Su *Department of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 510623, Guangzhou, China.
Yun-Ting LinDepartment of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 510623, Guangzhou, China.
Zhi-Kun LuDepartment of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 510623, Guangzhou, China.
Rui-Zhu LinDepartment of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 510623, Guangzhou, China.
Zhi-Zi ZhouDepartment of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 510623, Guangzhou, China.
Chun-Hua ZengDepartment of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 510623, Guangzhou, China.
Chun-Yan TaoDepartment of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 510623, Guangzhou, China.
Zong-Cai LiuDepartment of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 510623, Guangzhou, China.
Wen ZhangDepartment of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 510623, Guangzhou, China. zhw2001zhw@163.com.
Li LiuDepartment of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 510623, Guangzhou, China. liliuchina@qq.com.ORCID 0000-0002-4330-5694
Guangzhou Medical University · CNGuangzhou Women and Children Medical Center · CN

Funding

Guangzhou Municipal Science and Technology Bureau 202102021179Guangzhou Municipal Science and Technology Project 202102020732National Key Research and Development Program of China 2023YFC2706301National Natural Science Foundation of China 81700755
6 · The paper itself

Abstract

backgroundGlycogen storage disease type Ib (GSD Ib) is a rare disorder characterized by impaired glucose homeostasis caused by mutations in the SLC37A4 gene. It is a severe inherited metabolic disease associated with hypoglycemia, hyperlipidemia, lactic acidosis, hepatomegaly, and neutropenia. Traditional treatment consists of feeding raw cornstarch which can help to adjust energy metabolism but has no positive effect on neutropenia, which is fatal for these patients. Recently, the pathophysiologic mechanism of the neutrophil dysfunction and neutropenia in GSD Ib has been found, and the treatment with the SGLT2 inhibitor empaglifozin is now well established. In 2020, SGLT2 inhibitor empagliflozin started to be used as a promising efficient remover of 1,5AG6P in neutrophil of GSD Ib patients worldwide. However, it is necessary to consider long-term utility and safety of a novel treatment.

resultsIn this study, we retrospectively examined the clinical manifestations, biochemical examination results, genotypes, long-term outcomes and follow-up of thirty-five GSD Ib children who visited our department since 2009. Fourteen patients among them underwent empagliflozin treatment since 2020. This study is the largest cohort of pediatric GSD Ib patients in China as well as the largest cohort of pediatric GSD Ib patients treated with empagliflozin in a single center to date. The study also discussed the experience of long-term management on pediatric GSD Ib patients.

conclusionEmpagliflozin treatment for pediatric GSD Ib patients is efficient and safe. Increase of urine glucose is a signal for pharmaceutical effect, however attention to urinary infection and hypoglycemia is suggested.

Indexed as

Benzhydryl CompoundsGlycogen Storage Disease Type ISodium-Glucose Transporter 2 InhibitorsAntiportersChildFollow-Up StudiesGlucoseGlucosidesHumansHypoglycemiaMonosaccharide Transport ProteinsNeutropeniaRetrospective StudiesAntiportersBenzhydryl CompoundsempagliflozinGlucoseGlucosidesMonosaccharide Transport ProteinsSLC37A4 protein, humanSodium-Glucose Transporter 2 InhibitorsEmpagliflozinGlycogen storage disease type IbGSD IbPediatricslc37a4

Identifiers

PMID38605407
PMCPMC11010294
OpenAlexW4394716252

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.