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1
Fabry disease. A potential pitfall A family with a novel intronic mutation.法布里病。一个潜在的陷阱。一个携带新型内含子突变的家族。
Mol Genet Metab Rep. 2018 Sep 8;17:16-17. doi: 10.1016/j.ymgmr.2018.07.001. eCollection 2018 Dec.
2
Identification of a novel mutation and prevalence study for fabry disease in Japanese dialysis patients.鉴定一种新型突变并对日本透析患者中的法布里病进行患病率研究。
Ren Fail. 2012;34(5):566-70. doi: 10.3109/0886022X.2012.669300.
3
Rare Etiology of Renal Failure in a 25-Year-Old Caucasian Man: Fabry Disease With a Novel Mutation of GLA Gene.一名25岁白种男性肾衰竭的罕见病因：伴有GLA基因新突变的法布里病
Cureus. 2020 Jul 11;12(7):e9136. doi: 10.7759/cureus.9136.
4
Anderson-Fabry disease: a multiorgan disease.安德森-法布里病：一种多系统疾病。
Curr Pharm Des. 2013;19(33):5974-96. doi: 10.2174/13816128113199990352.
5
A Case Report of Kidney After Heart Transplant in Patient With Fabry Disease.法布里病患者心脏移植后肾脏的病例报告
Transplant Proc. 2023 Oct;55(8):1975-1977. doi: 10.1016/j.transproceed.2023.07.009. Epub 2023 Aug 8.
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Female with Fabry Disease Unknowingly Donates Affected Kidney to Sister: A Call for Pre-transplant Genetic Testing.患有法布里病的女性在不知情的情况下将受影响的肾脏捐给了妹妹：呼吁进行移植前基因检测。
JIMD Rep. 2012;4:1-4. doi: 10.1007/8904_2011_108. Epub 2011 Dec 6.
7
[alpha-Galactosidase gene mutation and its expression product in Fabry disease (alpha-galactosidase deficiency)].法布里病（α-半乳糖苷酶缺乏症）中的α-半乳糖苷酶基因突变及其表达产物
Rinsho Byori. 1997 Feb;45(2):127-35.
8
Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types.用卢昔雷斯特抑制葡萄糖神经酰胺合酶可降低不同突变型法布里病患者培养成纤维细胞中的神经节苷脂脂和溶酶体染色。
Hum Mol Genet. 2018 Oct 1;27(19):3392-3403. doi: 10.1093/hmg/ddy248.
9
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.法布里病中15种新突变的鉴定及基因型-表型关系
Clin Genet. 2001 Jul;60(1):46-51. doi: 10.1034/j.1399-0004.2001.600107.x.
10
Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype.法布里病：未确诊血液透析患者的检测及“肾变异型”表型的鉴定
Kidney Int. 2003 Sep;64(3):801-7. doi: 10.1046/j.1523-1755.2003.00160.x.

引用本文的文献

1
Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies.慢性疼痛患者中法布里病的患病率：来自DOUFAB和DOUFABIS研究的经验教训。
Eur J Pain. 2025 Jan;29(1):e4708. doi: 10.1002/ejp.4708. Epub 2024 Aug 4.

本文引用的文献

1
Fabry Disease: prevalence of affected males and heterozygotes with pathogenic mutations identified by screening renal, cardiac and stroke clinics, 1995-2017.法布里病：1995 年至 2017 年通过对肾脏、心脏和中风诊所进行筛查，确定了受影响男性和携带致病性突变的杂合子的患病率。
J Med Genet. 2018 Apr;55(4):261-268. doi: 10.1136/jmedgenet-2017-105080. Epub 2018 Jan 12.
2
Targeted Screening of Fabry Disease in Male Hemodialysis Patients in Brazil Highlights Importance of Family Screening.巴西男性血液透析患者中对法布里病的靶向筛查凸显了家族筛查的重要性。
Nephron. 2016;134(4):221-230. doi: 10.1159/000448740. Epub 2016 Aug 31.
3
A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report.一名女性患者的 GLA 基因内含子突变导致的安德森-法布里病的经典表型：病例报告。
BMC Cardiovasc Disord. 2012 Jun 8;12:39. doi: 10.1186/1471-2261-12-39.
4
Fabry disease: incidence of the common later-onset α-galactosidase A IVS4+919G→A mutation in Taiwanese newborns--superiority of DNA-based to enzyme-based newborn screening for common mutations.法布里病：在台湾新生儿中常见的晚期α-半乳糖苷酶 A IVS4+919G→A 突变的发生率——基于 DNA 的新生儿筛查对常见突变的优越性优于基于酶的筛查。
Mol Med. 2012 Jul 18;18(1):780-4. doi: 10.2119/molmed.2012.00002.
5
Fabry disease.法布里病。
Orphanet J Rare Dis. 2010 Nov 22;5:30. doi: 10.1186/1750-1172-5-30.
6
Elevated globotriaosylsphingosine is a hallmark of Fabry disease.高浓度的球三糖基鞘氨醇是法布里病的一个标志。
Proc Natl Acad Sci U S A. 2008 Feb 26;105(8):2812-7. doi: 10.1073/pnas.0712309105. Epub 2008 Feb 19.
7
A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population.捷克共和国血液透析患者群体中进行的法布里病全国性血斑筛查研究。
Nephrol Dial Transplant. 2007 Jan;22(1):179-86. doi: 10.1093/ndt/gfl528. Epub 2006 Oct 13.
8
High incidence of later-onset fabry disease revealed by newborn screening.新生儿筛查显示迟发型法布里病的高发病率。
Am J Hum Genet. 2006 Jul;79(1):31-40. doi: 10.1086/504601. Epub 2006 Apr 28.
9
Patients with Fabry disease on dialysis in the United States.美国接受透析治疗的法布里病患者。
Kidney Int. 2002 Jan;61(1):249-55. doi: 10.1046/j.1523-1755.2002.00097.x.
10
Prevalence of lysosomal storage disorders.溶酶体贮积症的患病率。
JAMA. 1999 Jan 20;281(3):249-54. doi: 10.1001/jama.281.3.249.

法布里病。一个潜在的陷阱。一个携带新型内含子突变的家族。

Fabry disease. A potential pitfall A family with a novel intronic mutation.

作者信息

Cabrera Gustavo, Perretta Fernando

机构信息

Centro Cardiovascular Bolívar, Departamento de Ecocardiografía, Buenos Aires, Argentina.

Co-Director Médico Fresenius Pilar, Buenos Aires, Argentina.

出版信息

Mol Genet Metab Rep. 2018 Sep 8;17:16-17. doi: 10.1016/j.ymgmr.2018.07.001. eCollection 2018 Dec.

DOI:10.1016/j.ymgmr.2018.07.001
PMID:30211005
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6129647/
Abstract

Fabry disease is a genetic disorder characterized by the accumulation of globotriaosylceramide in cell lysosomes resulting from an X-linked deficiency of α-galactosidase A activity. It presents with multiorgan manifestations, including progressive renal disease, cardiomyopathy and premature demise. Recently, its prevalence has been reported to be higher in hemodialysis (HD) patients than in the general population. We report two cases of homozygous patients with an intronic alpha-galactosidase gene mutation and a classic phenotype of the disease. One of the patients had a kidney transplant and the donor was his brother, before Fabry disease were diagnose.

摘要

法布里病是一种遗传性疾病，其特征是由于X连锁的α-半乳糖苷酶A活性缺乏，导致细胞溶酶体中球三糖神经酰胺蓄积。它表现为多器官症状，包括进行性肾病、心肌病和过早死亡。最近有报道称，血液透析（HD）患者中法布里病的患病率高于普通人群。我们报告了两例纯合子患者，他们存在内含子α-半乳糖苷基因突变，且具有该疾病的典型表型。其中一名患者在法布里病被诊断之前接受了肾脏移植，供体是他的兄弟。