New mutation in female patient with renal variant of Fabry disease and HIV.
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.
Department of Nephrology, Hospital Clinico Universitario de Valencia, Valencia - Spain. miguelsolis7@yahoo.es
Miguel Angel
MA
Solis
Belén
B
Pascual
Marta
M
Boscá
Verónica
V
Ramos
Carmen
C
Carda
Carlos
C
Monteagudo
Isidro
I
Torregrosa
Salvador
S
Pons
Alfonso
A
Miguel
D000328:Adult; D001706:Biopsy; D004252:DNA Mutational Analysis; D000795:Fabry Disease / Q000150:complications / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D005260:Female; D020022:Genetic Predisposition to Disease; D015658:HIV Infections / Q000150:complications*; D006801:Humans; D006942:Hypergammaglobulinemia / Q000821:virology; D007668:Kidney / Q000473:pathology; D007674:Kidney Diseases / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D010375:Pedigree; D000519:alpha-Galactosidase / Q000235:genetics*
D000519:alpha-Galactosidase