New mutation in female patient with renal variant of Fabry disease and HIV

作者：Angel Solis Miguel; Pascual Belen; Bosca Marta; Ramos Veronica; Carda Carmen; Monteagudo Carlos; Torregrosa Isidro; Pons Salvador; Miguel Alfonso

来源：Journal of Nephrology, 2010, 23(2): 231-233.

• Fabry
• Proteinuria
• Renal variant

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.

• 出版日期2010-4