Perretta Fernando, Antongiovanni Norberto, Jaurretche Sebastián
Servicio de Terapia Intensiva del Hospital Dr. Enrique Erill de Escobar, Provincia de Buenos Aires, Argentina.
GINEF Argentina (Grupo de Investigación Nefrológica en la Enfermedad de Fabry), Buenos Aires, Argentina.
Case Rep Nephrol. 2017;2017:9543079. doi: 10.1155/2017/9543079. Epub 2017 Oct 1.
Fabry disease is an X-linked lysosomal storage disorder resulting from the deficiency or absence of the enzyme alpha galactosidase A; this defect leads to the systemic accumulation of globotriaosylceramide and its metabolites. Organic involvement in men is well known, but in women it is controversial, mainly due to the random X-chromosome inactivation in each of their cells (Lyon hypothesis). This would explain why women (heterozygotes) present a wide variability in the severity of their phenotype. The manifestations are multisystemic and begin in early childhood, reaching a severe compromise in adulthood. Typical acroparesthesia in hands and feet, gastrointestinal symptoms, angiokeratomas, dyshidrosis, hearing loss, arrhythmias, hypertrophic cardiomyopathy, cerebrovascular accidents, and renal failure can be observed. Nephropathy is one of the major complications of Fabry disease. Glomerular and vascular changes are present before progression to overt proteinuria and decreased glomerular filtration rate, even in pediatric patients. A case of incipient renal involvement in a girl with classic Fabry disease is reported.
法布里病是一种X连锁溶酶体贮积症，由α-半乳糖苷酶A缺乏或缺失引起；这种缺陷导致球三糖神经酰胺及其代谢产物在全身蓄积。男性的器官受累情况众所周知，但女性的情况存在争议，主要是因为她们每个细胞中的X染色体随机失活（莱昂假说）。这可以解释为什么女性（杂合子）的表型严重程度存在很大差异。症状是多系统的，始于儿童早期，成年后会导致严重损害。可观察到典型的手足感觉异常、胃肠道症状、血管角质瘤、多汗、听力丧失、心律失常、肥厚型心肌病、脑血管意外和肾衰竭。肾病是法布里病的主要并发症之一。即使在儿科患者中，在出现明显蛋白尿和肾小球滤过率降低之前，就已存在肾小球和血管变化。本文报道了1例患有典型法布里病的女孩早期肾脏受累的病例。
