Department of Nephrology, Hospital Clinico Universitario de Valencia, Valencia - Spain.
J Nephrol. 2010 Mar-Apr;23(2):231-3.
We describe the case of a 27-year-old woman with a family history of Anderson-Fabry disease (AFD). Urinary sediment presented microhematuria and 0.9 g/24 hours proteinuria. The alpha-galactosidase A measurement in fibroblasts showed partial deficit of the enzyme, which was compatible with being a carrier of the illness. Renal biopsy gave evidence of kidney lesions from Fabry disease. Genetic study revealed mutation C52Y or Cys52Tyr, which has not been previously described and had also been detected in the father of the patient. During follow-up, the presence of hypergammaglobulinemia revealed an underlying HIV disease. She is now awaiting enzymatic substitution treatment.
我们描述了一例 27 岁有安德森-法布里病（AFD）家族史的女性。尿沉渣显示镜下血尿和 0.9 g/24 小时蛋白尿。成纤维细胞中α-半乳糖苷酶 A 的测量显示酶的部分缺乏，这与疾病携带者相符。肾脏活检显示有法布里病的肾脏病变。基因研究显示突变 C52Y 或 Cys52Tyr，这在以前没有描述过，也在患者的父亲中检测到。在随访期间，高球蛋白血症的存在揭示了潜在的 HIV 疾病。她现在正在等待酶替代治疗。
