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Aspek Genetik Sindrom Nefrotik Resisten Steroid

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Steroid resistant n~protic syndrome are patients who showed no remission after standard therapy of steroid. Until now, steroid resistant mechanism occurs through two ways, that are non gene that related with immunologic based and gene related with primary defect on glomerular filtration barrier. This paper describes those genes known related to the pathogenesis of steroid resistant nephrotic syndrome. These genes code glomerular slit diaphragm proteins. Mutation of these genes will cause changes on glomerular slit diaphragm architecture that is flattening of foot processes of podocyte which cause severe proteinuria. Recently, there are found 8 genes that code podocyte proteins:
NPHS I, ACTN4, NPHS2, CD2AP, WT 1, TRPC6, and LAMB2, last found is NPHS3 gene. Proteins coded by those genes are: nefrin, a-actinine-4, podosine, CD2-associated protein, Wilms' turnor, transient receptor potential 6, laminin ~2 chain, and phospholipase PLCE I. Clinical manifestation of steroid resistant nephrotic syndrome caused by mutation of these genes generally severe, earlier onset of illness and worsen to end stage kidney failure. We need to know about genetic aspect of steroid resistant neprotic syndrome to predict the progression and prognosis of the disease. [MKB. 201 0;42(1):37-44].

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Majalah Kedokteran Bandung, 42(12010:37-44

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Bandung : FK Universitas Padjadjaran., 2010

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3p,

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0126-074X

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