lunes, 9 de abril de 2018

A pilot screening of high-risk Gaucher disease children using dried blood spot methods in Shandong province of China | Orphanet Journal of Rare Diseases | Full Text

A pilot screening of high-risk Gaucher disease children using dried blood spot methods in Shandong province of China | Orphanet Journal of Rare Diseases | Full Text



Orphanet Journal of Rare Diseases

A pilot screening of high-risk Gaucher disease children using dried blood spot methods in Shandong province of China

  • Ke Lei,
  • Yanxia Zhao,
  • Lirong SunEmail author,
  • Hui Liang,
  • Ronghua Luo,
  • Xiaojing Sun,
  • Yanling Tao,
  • Lijun Chen,
  • Lingling Zhang,
  • Aimin Li,
  • Fu Li and
  • Hongfang Ding
Contributed equally
Orphanet Journal of Rare Diseases201813:48
Received: 16 August 2017
Accepted: 9 March 2018
Published: 6 April 2018

Abstract

Background

The study aim was to verify the feasibility of a diagnostic algorithm with the evaluation of beta glucocerebrosidase (GBA) activity on dried blood spots (DBS) in screening high-risk Gaucher disease (GD) children in China, and to investigate the GD prevalence in this selected population.

Methods

Children were recruited from 20 departments of pediatrics or children’s hospitals in Shandong Province, China, due to splenomegaly and/or thrombocytopenia associated with one or more of the following creteria: anemia, history of bone pain, monoclonal gammopathy of unknown significance (MGUS), polyclonal gammopathy and splenectomy. GBA activity on DBS was tested, and patients with DBS GBA activity under 30 nmol/h.ml were recalled to assess enzyme assay with gold standard and molecular GBA gene analysis on leukocytes.

Results

A total of 73 children (47 boys and 26 girls) were enrolled in this study. GBA activity DBS < 30 nmol/h.ml was found in 18 (23.7%) children among which four (three boys and one girl) were diagnosed as GD with a median age 1.5 years, and the prevalence in this pediatric population was 5.5% (1.5%~ 13.4%). Three new mutations of GBA found in the four GD patients, L264I, A100Cfs*7 and D399E, have not been reported before.

Conclusions

With evaluation of GBA activity on DBS as a preliminary screening method, the diagnostic algorithm used in this study is appropriate to make early diagnosis for GD patients with mild symptoms or atypical symptoms and avoid diagnosis delay.

Trial registration

Not applicable.

Keywords

Gaucher DiseaseBeta glucocerebrosidaseDried blood spot

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