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通过偶然发现的尿桑葚细胞诊断出的法布里病心脏变异型。

A Cardiac Variant of Fabry Disease Diagnosed with Chance Urinary Mulberry Cells.

作者信息

Onishi Rina, Kanaoka Koshiro, Sugiura Junichi, Tokunaga Motoko, Takemoto Yasuhiro, Onoue Kenji, Yamamoto Yuta, Horii Manabu, Saito Yoshihiko

机构信息

Cardiovascular Medicine, Nara City Hospital, Japan.

Cardiovascular Medicine, Nara Medical University, Japan.

出版信息

Intern Med. 2018 Dec 1;57(23):3385-3388. doi: 10.2169/internalmedicine.1177-18. Epub 2018 Jul 6.

DOI:10.2169/internalmedicine.1177-18
PMID:29984754
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6306526/
Abstract

Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A and is classified into two types: classical and variant. The classical type exhibits classic manifestations, but the variant type does not and is therefore difficult to identify sometimes. A 73-year-old woman with a first episode of heart failure was admitted to our hospital. Her left ventricular wall motion was mildly reduced without hypertrophy. Urine sediment revealed mulberry cells, leading to the diagnosis of Fabry disease. In cases without typical clinical findings, urinary mulberry cells may help diagnose Fabry disease.

摘要

法布里病是一种由α-半乳糖苷酶A缺乏引起的X连锁溶酶体贮积症，分为经典型和变异型两种类型。经典型表现出典型症状，但变异型则不然，因此有时难以识别。一名首次发作心力衰竭的73岁女性入住我院。她的左心室壁运动轻度减弱但无肥厚。尿沉渣检查发现桑葚细胞，从而诊断为法布里病。在没有典型临床表现的病例中，尿桑葚细胞可能有助于诊断法布里病。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3df8/6306526/7482999df9a0/1349-7235-57-3385-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3df8/6306526/5c266d05b12a/1349-7235-57-3385-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3df8/6306526/7482999df9a0/1349-7235-57-3385-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3df8/6306526/5c266d05b12a/1349-7235-57-3385-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3df8/6306526/7482999df9a0/1349-7235-57-3385-g002.jpg

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本文引用的文献

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Detection of Urinary Mulberry Bodies Leads to Diagnosis of Fabry Cardiomyopathy: A Simple Clue in the Urine Sediment.
Circ Heart Fail. 2017 Dec;10(12). doi: 10.1161/CIRCHEARTFAILURE.117.004538.
2
Fabry's disease discovered with chance urinary mulberry cells: a case report.偶然通过尿液中桑葚状细胞发现法布里病：一例报告
CEN Case Rep. 2013 May;2(1):49-52. doi: 10.1007/s13730-012-0038-x. Epub 2012 Oct 31.
3
A Renal Variant of Fabry Disease Diagnosed by the Presence of Urinary Mulberry Cells.通过尿液中桑葚状细胞诊断出的法布里病肾脏变异型。
Intern Med. 2020;59(7):971-976. doi: 10.2169/internalmedicine.3813-19. Epub 2020 Apr 1.
4
Clinical course and pathological findings of two late-onset Fabry hemizygous patients including mulberry cell counts after enzyme replacement therapy.两名迟发性法布里半合子患者的临床病程及病理结果，包括酶替代治疗后的桑葚细胞计数
CEN Case Rep. 2020 Aug;9(3):237-242. doi: 10.1007/s13730-020-00463-z. Epub 2020 Mar 18.
Intern Med. 2016;55(23):3475-3478. doi: 10.2169/internalmedicine.55.7367. Epub 2016 Dec 1.
4
Fabry Disease Diagnosed Based on the Detection of Urinary Mulberry Bodies.基于尿中桑葚体检测诊断法布里病。
Intern Med. 2016;55(19):2903. doi: 10.2169/internalmedicine.55.7084. Epub 2016 Oct 1.
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Effectiveness of agalsidase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10 years' treatment.阿加糖酶α酶替代疗法治疗法布里病的疗效：10年治疗后的心脏结局
Orphanet J Rare Dis. 2015 Sep 29;10:125. doi: 10.1186/s13023-015-0338-2.
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Orphanet J Rare Dis. 2015 Mar 27;10:36. doi: 10.1186/s13023-015-0253-6.
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Differences in Fabry cardiomyopathy between female and male patients: consequences for diagnostic assessment.法布里心肌病在男性和女性患者中的差异：对诊断评估的影响。
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