Late onset of familial nephrotic syndrome associated with a compound heterozygous mutation of the podocin‐encoding gene (Case Report)
A case of two young adult brothers with nephrotic syndrome secondary to focal segmental glomerulosclerosis is reported. Steroid resistance prompted us to perform genetic studies. These showed a compound heterozygous mutation of NPHS2, the gene encoding podocin. It was composed of a missense mutation...
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| Veröffentlicht in: | Nephrology (Carlton, Vic.) Vic.), 2005-12, Vol.10 (6), p.553-556 |
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| container_title | Nephrology (Carlton, Vic.) |
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| creator | ARDILES, LEOPOLDO G CARRASCO, ALEJANDRA E CARPIO, JUAN D MEZZANO, SERGIO A |
| description | A case of two young adult brothers with nephrotic syndrome secondary to focal segmental glomerulosclerosis is reported. Steroid resistance prompted us to perform genetic studies. These showed a compound heterozygous mutation of NPHS2, the gene encoding podocin. It was composed of a missense mutation in exon 7 (A284V) and the non‐neutral polymorphism R229Q in exon 5. We review literature supporting the genetic basis of the disease. |
| doi_str_mv | 10.1111/j.1440-1797.2005.00481.x |
| format | Article |
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Steroid resistance prompted us to perform genetic studies. These showed a compound heterozygous mutation of NPHS2, the gene encoding podocin. It was composed of a missense mutation in exon 7 (A284V) and the non‐neutral polymorphism R229Q in exon 5. 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Steroid resistance prompted us to perform genetic studies. These showed a compound heterozygous mutation of NPHS2, the gene encoding podocin. It was composed of a missense mutation in exon 7 (A284V) and the non‐neutral polymorphism R229Q in exon 5. We review literature supporting the genetic basis of the disease.</description><subject>Adult</subject><subject>familial nephrotic syndrome</subject><subject>focal segmental glomerulosclerosis</subject><subject>Glomerulosclerosis, Focal Segmental - complications</subject><subject>Glomerulosclerosis, Focal Segmental - genetics</subject><subject>Glomerulosclerosis, Focal Segmental - pathology</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Intracellular Signaling Peptides and Proteins</subject><subject>Kidney - pathology</subject><subject>Male</subject><subject>Membrane Proteins - genetics</subject><subject>Mutation</subject><subject>Nephrotic Syndrome - etiology</subject><subject>Nephrotic Syndrome - genetics</subject><subject>Nephrotic Syndrome - pathology</subject><subject>NPHS2</subject><subject>podocin</subject><issn>1320-5358</issn><issn>1440-1797</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkU2v1CAUhonReK9X_4JhZXTRCoUCTdyYyfUjmagxuiaUns4waaEWmnvHlTu3_kZ_idSZ6FLZcBKe9z0kD0KYkpLm8_xQUs5JQWUjy4qQuiSEK1re3kGXfx7u5plVpKhZrS7QgxgPhFBZCXofXVDBal4xeYm-b00CHHyEhEOPezO6wZkBe5j2c0jO4nj03RxGwCbGYF3GO3zj0h4bbMM4hcV3eA8J5vD1uAtLxOOSTHLBr31pD3gKXc75n99-gLehc36Hd-ABP92YCPgjTGFOzx6ie70ZIjw631fo86vrT5s3xfb967ebl9vCskbSouWq58aKXkhhVNvT1rSU17yWDaeirohSHaOciN5IKQWrWNO00qoGZC2qpmFX6Mmpd5rDlwVi0qOLFobBeMif10Kp3FSxf4IVpY2gNcmgOoF2DjHO0OtpdqOZj5oSvdrSB71K0asUvdrSv23p2xx9fN6xtCN0f4NnPRl4cQJu3ADH_y7W764_5IH9Av6BpOc</recordid><startdate>200512</startdate><enddate>200512</enddate><creator>ARDILES, LEOPOLDO G</creator><creator>CARRASCO, ALEJANDRA E</creator><creator>CARPIO, JUAN D</creator><creator>MEZZANO, SERGIO A</creator><general>Blackwell Science Pty</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>200512</creationdate><title>Late onset of familial nephrotic syndrome associated with a compound heterozygous mutation of the podocin‐encoding gene (Case Report)</title><author>ARDILES, LEOPOLDO G ; CARRASCO, ALEJANDRA E ; CARPIO, JUAN D ; MEZZANO, SERGIO A</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3971-b48f4ac6f676a8bf1bab145457941652088d31406fa777632399b7c89e7562993</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2005</creationdate><topic>Adult</topic><topic>familial nephrotic syndrome</topic><topic>focal segmental glomerulosclerosis</topic><topic>Glomerulosclerosis, Focal Segmental - complications</topic><topic>Glomerulosclerosis, Focal Segmental - genetics</topic><topic>Glomerulosclerosis, Focal Segmental - pathology</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Intracellular Signaling Peptides and Proteins</topic><topic>Kidney - pathology</topic><topic>Male</topic><topic>Membrane Proteins - genetics</topic><topic>Mutation</topic><topic>Nephrotic Syndrome - etiology</topic><topic>Nephrotic Syndrome - genetics</topic><topic>Nephrotic Syndrome - pathology</topic><topic>NPHS2</topic><topic>podocin</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>ARDILES, LEOPOLDO G</creatorcontrib><creatorcontrib>CARRASCO, ALEJANDRA E</creatorcontrib><creatorcontrib>CARPIO, JUAN D</creatorcontrib><creatorcontrib>MEZZANO, SERGIO A</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Nephrology (Carlton, Vic.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>ARDILES, LEOPOLDO G</au><au>CARRASCO, ALEJANDRA E</au><au>CARPIO, JUAN D</au><au>MEZZANO, SERGIO A</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Late onset of familial nephrotic syndrome associated with a compound heterozygous mutation of the podocin‐encoding gene (Case Report)</atitle><jtitle>Nephrology (Carlton, Vic.)</jtitle><addtitle>Nephrology (Carlton)</addtitle><date>2005-12</date><risdate>2005</risdate><volume>10</volume><issue>6</issue><spage>553</spage><epage>556</epage><pages>553-556</pages><issn>1320-5358</issn><eissn>1440-1797</eissn><abstract>A case of two young adult brothers with nephrotic syndrome secondary to focal segmental glomerulosclerosis is reported. 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| issn | 1320-5358 1440-1797 |
| language | eng |
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| source | MEDLINE; Wiley Journals |
| subjects | Adult familial nephrotic syndrome focal segmental glomerulosclerosis Glomerulosclerosis, Focal Segmental - complications Glomerulosclerosis, Focal Segmental - genetics Glomerulosclerosis, Focal Segmental - pathology Heterozygote Humans Intracellular Signaling Peptides and Proteins Kidney - pathology Male Membrane Proteins - genetics Mutation Nephrotic Syndrome - etiology Nephrotic Syndrome - genetics Nephrotic Syndrome - pathology NPHS2 podocin |
| title | Late onset of familial nephrotic syndrome associated with a compound heterozygous mutation of the podocin‐encoding gene (Case Report) |
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