Fabry disease with chronic nephritis syndrome as the main manifestation and literature study:2 cases report
LIAO Wuqiong
LI Diangeng
XIE Dayang
CHEN Pu
LI Qinggang
CHEN Xiangmei
Abstract：Objective To investigate the clinical manifestation and renal pathology of Fabry disease which characteri zed with chronic nephritis syndrome as the main manifestation. Methods Retrospectively review the 2 cases of Fabry disease, which characterized as chronic nephritis syndrome as the main manifestation, the clinical signs and pathology were analyzed, and review of the relevant literature to master the methods of diagnosis and treatment. Results One case was male patient, the other was female patient, and onset age was 46 years old and 44 years old, 2 cases showed proteinuria, hematuria, hyperten-sion, and no characteristic of extra-renal manifestations. Under the light microscope, glomerular sclerosis rates were 30. 8%and 32. 1% respectively, significant swelling of glomerular podocytes, visible vacuoles formed in the cytoplasm, renal tubular multifocal atrophic were found. Dense and irregular osmiophilic myelin bodies also can be found. There is no effective cure methods for Fabry disease, combined with renal damage, the treatment mainly was to protect the kidney function, reducing protein, control symptom, the main medicine are ARB, such as losartan potassium, leflunomide. Conclusion Fabry disease is a rare genetic chromosome X diseases, renal damage is one of the most common clinical manifestation, under microscopic osmiophilic myelin bodies is the pathological finding, symptomatic treatment with enzyme replacement therapy are the main treatment, and combined with the genetics of appropriate intervention to block the genetics of the disease.
Keywords：Fabry diseaseNephritic syndromechronicLiterature review
Publication Date：2015-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 145-147,150 )