Evidence map›Paper›PMID 34906154›Full record

ArticleOrphanet journal of rare diseases2021

Multidisciplinary approach to screening and management of children with Fabry disease: practice at a Tertiary Children's Hospital in China.

Qian Shen, Jialu Liu, Jing Chen, Shuizheng Zhou, Yi Wang, Lifei Yu, Li Sun, Liuhui Wang, Bingbing Wu, Fang Liu and 11 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.6field-weighted citation impact, top 32% 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

8 citing papers in PubMed, 11 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Review
  5. Article
  6. Review
  7. Article
  8. Review
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

21 authors at 1 institution in 1 country.

Qian Shen *Department of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Jialu Liu *Department of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Jing ChenDepartment of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Shuizheng ZhouDepartment of Neurology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Yi WangDepartment of Neurology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Lifei YuDepartment of Neurology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Li SunDepartment of Rheumatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Liuhui WangDepartment of Dermatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Bingbing WuClinical Genetic Center, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Fang LiuPediatric Heart Center, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Yun CaoDepartment of Neonatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Ying HuangDepartment of Gastroenterology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Jianshe WangCenter for Pediatric Liver Diseases, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Chenhao YangDepartment of Ophthalmology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Daqian ZhuDepartment of Psychology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Yangyang MaDepartment of Pathology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Zhengmin XuDepartment of Otolaryngology-Head and Neck Surgery, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Wei LuDepartment of Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Lili FuDepartment of Social Work, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Wenhao ZhouClinical Genetic Center, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Hong XuDepartment of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China. hxu@shmu.edu.cn.ORCID 0000-0001-7617-0872
Children's Hospital of Fudan University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundFabry disease (FD) remains poorly recognized, especially in children in China. Considering the diversity and nonspecific clinical manifestations accompanying with life-threatening aspect of this disease, methods to improve effective screening and management of the suspects are needed. This study aims to explore how it can be done effectively from a multidisciplinary perspective for children with FD at a tertiary children's hospital in China.

methodsA multidisciplinary team (MDT) of pediatric FD experts was launched at Children's Hospital of Fudan University. Children with high-risk characteristics were referred by the MDT screening team using the dried blood spot (DBS) triple-test (α-galactosidase A, globotriaosylsphingosine, GLA gene). For newborns who were undergoing genetic testing in the hospital, the GLA gene was listed as a routine analysis gene. Evaluation, family screening, and genetic counselling were implemented after screening by the MDT management team.

resultsBefore the establishment of the MDT, no case was diagnosed with FD in the hospital. However, twelve months following the MDT program's implementation, thirty-five children with high-risk profiles were referred for screening by DBS triple-test, with a yield of diagnosis of 14.3% (5/35). These 5 diagnosed children were referred due to a high-risk profile of pain accompanied by dermatological angiokeratoma and hypohidrosis (n = 2), pain accompanied by abnormal liver function (n = 1), pain only (n = 1), and unexplained renal tubular dysfunction (n = 1). Two neonates were detected early with GLA mutations in the hospital, with a yield of detection of 0.14% (2/1420). Furthermore, another 3 children diagnosed with FD were referred from other hospitals. Family screening of these 10 diagnosed children indicated that 9 boys inherited it from their mothers and 1 girl inherited it from her father. Four of them started to receive enzyme replacement therapy.

conclusionScreening and management of children with FD is effective based on a defined screening protocol and a multidisciplinary approach. We should pay more attention to the high-risk profiles of pain, angiokeratoma, decreased sweating, and unexplained chronic kidney disease in children.

Indexed as

Fabry DiseaseRenal Insufficiency, Chronicalpha-GalactosidaseChildChinaFemaleHospitalsHumansInfant, NewbornMalealpha-GalactosidaseChildrenDried blood spotEnzyme replacement therapyFabry diseaseMultidisciplinary teamRare diseaseScreening

Identifiers

PMID34906154
PMCPMC8670193
OpenAlexW4200509435

What OpenQuestion 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 OpenQuestion graph.