刘甜甜,冯 杰,李欣忆,蔡小月

法布里病（FD）是一种X连锁遗传性溶酶体疾病，由GLA基因突变导致α-半乳糖苷酶A（α-Gal A）缺乏所致[1]。这种疾病会导致进行性多器官功能障碍，主要影响心脏、肾脏和神经系统[2]。法布里病累及肾脏称为法布里肾病（Fabry肾病），此病较为罕见，特此报道。

法布里病；法布里肾病；诊断；治疗

[1] Esposito P,Caputo C,Repetto M,Somaschini A,Pietro B,Colomba P,Zizzo C,Parodi A,Zanetti V,Canepa M,Eustachi V,Sanguineri F, Mandich P,Viazzi F.Diagnosing Fabry nephropathy:the challenge of multiple kidney disease.BMC Nephrol.2023 Nov 21;24(1):344. [2] Nowicki M,Bazan-Socha S,Błażejewska-Hyżorek B,Kłopotowski MM,Komar M,Kusztal MA,Liberek T,Małyszko J,Mizia-Stec K, Oko-Sarnowska Z,Pawlaczyk K,Podolec P,Sławek J;Polish Fabry Disease Collaborative Group.A review and recommendations for oral chaperone therapy in adult patients with Fabry disease.Orphanet J Rare Dis.2024 Jan 18;19(1):16. [3] Sansone L,Barreca F,Belli M,Aventaggiato M,Russo A,Perrone GA,Russo MA,Tafani M,Frustaci A.Infertility in Fabry's Disease:role of hypoxia and inflammation in determining testicular damage.Front Endocrinol(Lausanne).2024 Feb 22;15:1340188. [4] Chen X,Li H,Liao H,Zhan X,Zhong Z,Zhang Q,Liu L,Liang Y,Deng H,Fang X,Xue Y,Wu S,Liu Y.Clinical and genetic spectrum in Chinese families with Fabry disease:a single-centre case series.ESC Heart Fail.2021 Dec;8(6):5436-5444. [5] Linares D,Luna B,Loayza E,Taboada G,Ramaswami U.Prevalence of Fabry disease in patients with chronic kidney disease:A systematic review and meta-analysis.Mol Genet Metab.2023 Dec;140(4):107714. [6] Nagata A,Nasu M,Kaida Y,Nakayama Y,Kurokawa Y,Nakamura N,Shibata R,Hazama T,Tsukimura T,Togawa T,Saito S,Sakuraba H,Fukami K.Screening of Fabry disease in patients with chronic kidney disease in Japan.Nephrol Dial Transplant.2021 Dec 31;37(1):115-125. [7] Chimenz R,Chirico V,Cuppari C,Ceravolo G,Concolino D,Monardo P,Lacquaniti A.Fabry disease and kidney involvement:starting from childhood to understand the future.Pediatr Nephrol.2022 Jan;37(1):95-103. [8] Germain DP,Altarescu G,Barriales-Villa R,Mignani R,Pawlaczyk K,Pieruzzi F,Terryn W,Vujkovac B,Ortiz A.An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease.Mol Genet Metab.2022 Sep-Oct;137(1-2):49-61. [9] Laney DA,Fernhoff PM.Diagnosis of Fabry disease via analysis of family history.J Genet Couns.2008 Feb;17(1):79-83. [10] 国家卫生健康委官网.国家卫健委:完成我国首部罕见病诊疗指南发布[J].中华医学信息导报,2019(5):7. [11] 陈冰蓉,童敏青,路智红,等.高危筛查联合家系筛查法筛查成人血液透析人群中法布里病患者——附法布里病GLA IVS4+919G>A突变1例家系报道[J].中华肾脏病杂志,2024,40(1):18-23.

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