Buda Piotr, Wieteska-Klimczak Anna, Ksiazyk Janusz, Smorczewska-Kiljan Anna, Gietka Piotr, Czartoryska Barbara, Tylki-Szymańska Anna
Klinika Pediatrii i Zywienia Kierownile prof. dr hab. n. med. I. Ksiqiyk Instytut, Pomnik - Centrum Zdrowia Dziecka" w Warszawie.
Med Wieku Rozwoj. 2011 Jan-Mar;15(1):69-72.
Fabry disease is a rare X-linked recessive lysosomal storage disorder caused by deficiency of lysosomal enzyme alpha-galactosidase, which leads to accumulation of globotriasylceramides (GL-3) in visceral tissues and vascular endothelium, causing multi-organ failure. We presenta case of Fabry disease in a 17-year-old patient with mainly gastrointestinal manifestations, diagnosed 10 years after the manifestation of first symptoms. Significant and progressive weight loss with abdominal pain and vomiting, leading to cachexia, were observed in early childhood. The patient was investigated for non-inflammatory bowel diseases, Raynaud syndrome, polimyositis, mitochondrial cytopathies, intestinal lypodystrophies and others. The symptoms of intenstinal pseudo-obstruction syndrome were observed and surgical treatment was instituted because of necrosis of the colon. There was progressive cachexia and parenteral nutrition had to be instituted. Finally, plasma alpha-galactosidase was measured, and its deficit confirmed Fabry disease. In conclusion gastrointestinal symptoms in the course of Fabry disease can obscure other characteristic symptoms, may be prodromal and leading. Heart and renal failure may not occur in children. Unexplained abdominal pain and malnutrition may be gastrointestinal manifestations of metabolic disorders.
法布里病是一种罕见的X连锁隐性溶酶体贮积症,由溶酶体酶α-半乳糖苷酶缺乏引起,导致球三糖神经酰胺(GL-3)在内脏组织和血管内皮中蓄积,从而引起多器官功能衰竭。我们报告一例17岁主要表现为胃肠道症状的法布里病患者,在首次出现症状10年后确诊。在幼儿期观察到显著且进行性的体重减轻,并伴有腹痛和呕吐,最终导致恶病质。该患者曾接受针对非炎性肠病、雷诺综合征、多发性肌炎、线粒体细胞病、肠道脂肪营养不良等疾病的检查。观察到肠道假性梗阻综合征的症状,并因结肠坏死而进行了手术治疗。患者出现进行性恶病质,不得不采用肠外营养。最后,检测血浆α-半乳糖苷酶,其缺乏确诊为法布里病。总之,法布里病过程中的胃肠道症状可能会掩盖其他特征性症状,可能是前驱性的且具有主导性。儿童可能不会出现心脏和肾衰竭。不明原因的腹痛和营养不良可能是代谢紊乱的胃肠道表现。