Longitudinal Assessment of Curaçao Criteria in Children with Hereditary Hemorrhagic Telangiectasia.
The Journal of pediatrics(2023)
摘要
In the pediatric population, most patients do not meet definite clinical criteria of HHT at initial presentation. While the number of diagnostic criteria met increased over time, mainly due to new onset of epistaxis and telangiectasia, accuracy remained low during follow-up visits. Relying solely on clinical criteria may lead to underdiagnosis of HHT in children.
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关键词
hereditary hemorrhagic telangiectasia,HHT,arteriovenous malformation,AVM,ALK1,ACVRL1,endoglin,ENG,SMAD4,epistaxis,telangiectasia
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