Clinical evaluation, accurate diagnosis and treatment of four pedigrees with Fabry's disease
ObjectiveThis article analyzes the data of four families with mutations of the GLA (galactosidase) gene with a special focus on the clinical presentation, diagnosis, and interdisciplinary clinical management of Fabry disease (FD) and enzyme replacement therapy (ERT) treatment, and has the aim to ass...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-02-01
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| Series: | Frontiers in Pediatrics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2023.1057014/full |
| _version_ | 1797924463480668160 |
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| author | Peng Gou Jie Leng Xinran Cheng Jing Zhang |
| author_facet | Peng Gou Jie Leng Xinran Cheng Jing Zhang |
| author_sort | Peng Gou |
| collection | DOAJ |
| description | ObjectiveThis article analyzes the data of four families with mutations of the GLA (galactosidase) gene with a special focus on the clinical presentation, diagnosis, and interdisciplinary clinical management of Fabry disease (FD) and enzyme replacement therapy (ERT) treatment, and has the aim to assess more accurate prevention and treatment strategy.MethodsThe 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.ResultsFive 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.ConclusionThe 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. |
| first_indexed | 2024-04-10T15:01:46Z |
| format | Article |
| id | doaj.art-30498f79abed4dd2a726db07d1310d31 |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-04-10T15:01:46Z |
| publishDate | 2023-02-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-30498f79abed4dd2a726db07d1310d312023-02-15T10:34:47ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602023-02-011110.3389/fped.2023.10570141057014Clinical evaluation, accurate diagnosis and treatment of four pedigrees with Fabry's diseasePeng GouJie LengXinran ChengJing ZhangObjectiveThis article analyzes the data of four families with mutations of the GLA (galactosidase) gene with a special focus on the clinical presentation, diagnosis, and interdisciplinary clinical management of Fabry disease (FD) and enzyme replacement therapy (ERT) treatment, and has the aim to assess more accurate prevention and treatment strategy.MethodsThe 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.ResultsFive 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.ConclusionThe 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.https://www.frontiersin.org/articles/10.3389/fped.2023.1057014/fullfabry's diseasechildrengenotypefamilyenzyme replacement therapy |
| spellingShingle | Peng Gou Jie Leng Xinran Cheng Jing Zhang Clinical evaluation, accurate diagnosis and treatment of four pedigrees with Fabry's disease Frontiers in Pediatrics fabry's disease children genotype family enzyme replacement therapy |
| title | Clinical evaluation, accurate diagnosis and treatment of four pedigrees with Fabry's disease |
| title_full | Clinical evaluation, accurate diagnosis and treatment of four pedigrees with Fabry's disease |
| title_fullStr | Clinical evaluation, accurate diagnosis and treatment of four pedigrees with Fabry's disease |
| title_full_unstemmed | Clinical evaluation, accurate diagnosis and treatment of four pedigrees with Fabry's disease |
| title_short | Clinical evaluation, accurate diagnosis and treatment of four pedigrees with Fabry's disease |
| title_sort | clinical evaluation accurate diagnosis and treatment of four pedigrees with fabry s disease |
| topic | fabry's disease children genotype family enzyme replacement therapy |
| url | https://www.frontiersin.org/articles/10.3389/fped.2023.1057014/full |
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