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Current insights into the diagnosis and treatment of inherited bone marrow
failure syndromes in China
#MMPMID27358883
Zhu X
Stem Cell Investig
2015[]; 2
(?): 15
PMID27358883
show ga
Inherited bone marrow failure syndromes (IBMFs) account for 20% of pediatric
BMFs. Although recommendations for the diagnosis and treatment of IBMFs in China
have been published recently, improvements are still needed in making precise
diagnoses and properly treating pediatric patients with IBMFs. This review
provides current insights into IBMFs in China. The data of our single institution
data showed that pediatric patients with IBMFs accounted for 7.4% of BMFs.
However, the number of reported cases with IBMFs may be underestimated than the
actual morbidity in China because of limitations in the detection approaches and
lacking of awareness of these diseases in local hospitals. Although patients with
IBMFs are candidates for bone marrow transplantation or gene therapy, their
phenotypic heterogeneity can delay or incompetent diagnosis. The golden standard
test for Fanconi anemia is the chromosome breakage test, but it can be completed
by few hospital and diagnostic companies in China. In addition, there are still
no consistent standardized testing methods for other rare IBMFs. Recently, the
combined application of targeted capture and next-generation sequencing (NGS)
provides and accurate and efficient diagnostic method for IBMFs.
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