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

被引：0

作者：

Angel Solis, Miguel ^{[1
]}

Pascual, Belen ^{[1
]}

Bosca, Marta ^{[2
]}

Ramos, Veronica ^{[1
]}

Carda, Carmen ^{[3
]}

Monteagudo, Carlos ^{[3
]}

Torregrosa, Isidro ^{[1
]}

Pons, Salvador ^{[1
]}

Miguel, Alfonso ^{[1
]}

机构：

[1] Hosp Clin Univ Valencia, Dept Nephrol, Valencia 46010, Spain

[2] Hosp Clin Univ Valencia, Dept Gastroenterol & Hepatol, Valencia 46010, Spain

[3] Hosp Clin Univ Valencia, Dept Anat Pathol, Valencia 46010, Spain

来源：

JOURNAL OF NEPHROLOGY | 2010年 / 23卷 / 02期

关键词：

Fabry; Proteinuria; Renal variant; GALACTOSIDASE-A GENE; ALPHA-GALACTOSIDASE;

D O I：

暂无

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：231 / 233

页数：3

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