Objective:To investigate the clinical phenotype and genetic characteristics of patients with Fabry disease caused by a GLA variant, IVS4+919G>A.Methods:It was a prospective study. Fabry disease screening was conducted among high-risk population in Ninghai from October 2021 to August 2023. Those children with decreased α-galactosidase enzyme activity<2.40 μmol/(L·h) or elavated Lyso-GL-3 level>1.10 μg/L in dried blood spot (DBS) method underwent GLA genetic testing for diagnosis confirmation. Meanwhile, family screening was carried out. A proband and his family members diagnosed with Fabry disease were research subjects. The clinical and genetic characteristics of patients with Fabry disease caused by the GLA variant (IVS4+919G>A) were analyzed.Results:The female proband aged 9.8 years with pain in both lower limbs as the initial symptom was found to have a heterozygous GLA variant IVS4+919G>A among 102 patients. In family screening, there were 4 family members (proband's father, elder sister, elder male cousin and elder female cousin) with Fabry disease and a family member (proband's fifth aunt) with a GLA variant. Among these 4 diagnosed family members, the elder male cousin of the proband, a boy aged 13.2 years had a heterozygous GLA variant, IVS4+919G>A with intermittent pain in both lower limbs as the initial symptom. The proband′s father had knee joint pain. The proband′s elder sister had decreased vision and his elder female cousin had no obvious symptoms. The proband′s fifth aunt with a GLA variant had decreased vision.Conclusions:High-risk screening in children and family screening are helpful for early diagnosis and treatment of Fabry disease. Neuropathic pain may be a early symptom in children with Fabry disease caused by the GLA variant, IVS4+919G>A.

Objective:To examine 2019 novel coronavirus (2019-nCoV) RNA in clinical specimens of COVID-19 patients in Anhui province, and provide evidence for laboratory diagnosis of COVID-19 and risk assessment of clinical specimens.Methods:ORF1ab gene and N gene of 2019-nCoV were detected by real-time fluorescence RT-PCR in 466 clinical specimens of 197 COVID-19 cases. Chi-square test was used to analyze the differences in positive rates of specimens with clinical classification and time of onset.Results:The positive rates of 2019-nCoV in throat swab, sputum, serum, blood sample were 88.83%, 94.67%, 6.78% and 5.08%. The positive rate for 2019-nCoV RNA in throat swabs and sputum differed significantly ( χ2=8.994, P=0.003) in common cases during 7 days after illness onset. Conclusions:The positive rate of RNA in sputum was higher than throat swabs. 2019-nCoV RNA was detected in serum and blood specimens of COVID-19 cases. There was a risk of serum and blood specimens for transmission of COVID-19.