Pathologic substrate of gastropathy in Anderson-Fabry disease

被引：5

作者：

Di Toro, Alessandro ^{[1
]}

Narula, Nupoor ^{[1
,2
]}

Giuliani, Lorenzo ^{[1
]}

Concardi, Monica ^{[1
]}

Smirnova, Alexandra ^{[1
]}

Favalli, Valentina ^{[1
,3
]}

Urtis, Mario ^{[1
]}

Alvisi, Costanza ^{[4
]}

Antoniazzi, Elena ^{[5
]}

Arbustini, Eloisa ^{[1
]}

机构：

[1] Fdn IRCCS Policlin San Matteo, Ctr Inherited Cardiovasc Dis, Transplant Res Area, Piazzale Golgi 19, I-27100 Pavia, Italy

[2] Weill Cornell Med, New York Presbyterian Hosp, Dept Med, Div Cardiol, New York, NY USA

[3] European Inst Oncol, Dept Expt Oncol, Milan, Italy

[4] Osped Civile Voghera, ASST, Internal Med Endoscopy Unit, Pavia, Italy

[5] Fdn IRCCS Policlin San Matteo, Ophthalmol, Pavia, Italy

来源：

ORPHANET JOURNAL OF RARE DISEASES | 2020年 / 15卷 / 01期

关键词：

Anderson Fabry disease (AFD); Gastropathy; Esophagogastroduodenoscopy (EGD); Globotriaosylceramide (GB3); SYMPTOMS;

D O I：

10.1186/s13023-020-01436-2

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

In both classic and late-onset AFD, mutations of the GLA gene cause deficient activity of the alpha-galactosidase enzyme resulting in intracellular accumulation of the undigested substrate. Gastrointestinal symptoms (GI) are common but non-specific and imputed to the AFD, irrespective of the demonstration of substrate accumulation in GI cells. We demonstrate substrate accumulation in gastric epithelial, vascular, and nerve cells of patients with classic AFD and, vice versa, absence of accumulation in late-onset AFD and controls.

引用

页数：4

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