UNASSIGNED: The MSSI (Mainz Severity Score Index) scale was used to evaluate the clinical data of five children diagnosed in our hospital, and the genotypes of all the patients with FD were collected. Two of the male children started ERT. We summarize the clinical effect and the evaluation of globotriaosylsphingosine (Lyso-GL-3) before and after treatment.
UNASSIGNED: Five children were confirmed as having FD using the family histories, clinical manifestations, α-galactosidase A (a-Gal A) activity, and genetic test results. Two children used agalsidase α every 2 weeks regularly, after ERT. Their clinical symptoms improved, their pain intensity was significantly relieved, and upon re-examination their Lyso-GL-3 decreased conspicuously and no serious adverse reactions occurred. We report for the first time four families with children with FD. The youngest child was only 1 year old. The four families included one girl which is rare in X-linked lysosomal storage diseases.
UNASSIGNED: The clinical phenotype of FD in childhood is nonspecific, and the misdiagnosis rate is high. Most children with FD have a delayed diagnosis, and their organs are often seriously damaged in adulthood. Pediatricians must improve their diagnosis and treatment awareness, screen high-risk groups, and emphasize multidisciplinary cooperation and holistic lifestyle management after diagnosis. The diagnosis of the proband is also conducive to the mining of other cases of FD families and has important guiding significance for prenatal diagnosis.
UNASSIGNED:MSSI(美因茨严重程度评分指数)量表用于评估在我院确诊的5名儿童的临床资料,收集所有FD患者的基因型。两个男孩开始了ERT。我们总结了globotriosylhinshingosine(Lyso-GL-3)治疗前后的临床疗效和评估。
未经评估:使用家族史确认有5名儿童患有FD,临床表现,α-半乳糖苷酶A(a-GalA)活性,和基因测试结果。两名儿童每两周定期使用半乳糖苷酶α,在ERT之后。他们的临床症状有所改善,他们的疼痛强度明显减轻,重新检查后,其Lyso-GL-3明显下降,未发生严重不良反应。我们首次报道了四个有FD儿童的家庭。最小的孩子只有1岁。这四个家庭包括一个在X连锁溶酶体贮积病中罕见的女孩。
未经证实:儿童FD的临床表型是非特异性的,误诊率高。大多数FD患儿诊断延迟,他们的器官往往在成年后严重受损。儿科医生必须提高诊疗意识,筛查高危人群,并强调诊断后的多学科合作和整体生活方式管理。先证者的诊断也有利于FD家系其他病例的挖掘,对产前诊断具有重要的指导意义。