Perretta Fernando, Antongiovanni Norberto, Jaurretche Sebastián
Servicio de Terapia Intensiva del Hospital Dr. Enrique Erill de Escobar, Buenos Aires, Argentina.
GINEF (Grupo de Investigación Nefrológica en la Enfermedad de Fabry), Buenos Aires, Argentina.
ScientificWorldJournal. 2018 May 21;2018:6515613. doi: 10.1155/2018/6515613. eCollection 2018.
Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from the deficiency or absence of the alpha galactosidase A enzyme. Organic involvement in men is well known, but in women it is controversial, partly due to the random X-chromosomes inactivation (Lyon hypothesis). The aim of this study was to describe the organic involvement in women at the time of FD diagnosis. A descriptive, cross-sectional and multicenter study was carried out. Thirty-five women with FD from three reference centers in Argentina were evaluated. The mean age of the whole group ( = 35) was 26.6 ± 16.9 years; 22 were adult (over 18) and 13 were paediatric patients. Enzymatic activity was performed in 29/35 patients, which was normal in 24/29 (82.8%). Seven different mutations of the GLA gene were found. The results showed urinary protein loss (45.7%) and decreased glomerular filtration rate (31.4%), mainly in adults. And also, cornea verticillata (56.5%), peripheral neuropathy (51.4%), cardiovascular manifestations (31.4%), hearing loss (20%), angiokeratomas (20%), central nervous system (17.1%), and gastrointestinal involvement (14.3%). Organic compromise in females with FD may be as severe as in men. This analysis has demonstrated a significant proportion of women with signs, symptoms, and major organic involvement at FD diagnosis.
法布里病（FD）是一种X连锁溶酶体贮积症，由α-半乳糖苷酶A酶缺乏或缺失引起。男性的器官受累情况众所周知，但女性的情况存在争议，部分原因是随机的X染色体失活（莱昂假说）。本研究的目的是描述FD诊断时女性的器官受累情况。开展了一项描述性、横断面多中心研究。对来自阿根廷三个参考中心的35名FD女性患者进行了评估。整个组（n = 35）的平均年龄为26.6±16.9岁；22名是成年人（18岁以上），13名是儿科患者。对29/35名患者进行了酶活性检测，其中24/29（82.8%）结果正常。发现了GLA基因的7种不同突变。结果显示主要在成年人中出现尿蛋白丢失（45.7%）和肾小球滤过率降低（31.4%）。此外，还有角膜涡状浑浊（56.5%）、周围神经病变（51.4%）、心血管表现（31.4%）、听力损失（20%）、血管角质瘤（20%）、中枢神经系统受累（17.1%）和胃肠道受累（14.3%）。FD女性患者的器官损害可能与男性一样严重。该分析表明，很大一部分女性在FD诊断时有体征、症状和主要器官受累情况。
