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10.2169/internalmedicine.56.7930 http://scihub22266oqcxt.onion/10.2169/internalmedicine.56.7930 C5498205!5498205 !28566604     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=28566604 &cmd=llinks): Failed to open stream: HTTP request failed! 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Unusual Proliferative Glomerulonephritis in a Patient Diagnosed to Have Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome with a Novel Mutation in the GATA3 Gene |pdf=|usr=}}{{28566604 }} gab.com Text Unusual Proliferative Glomerulonephritis in a Patient Diagnosed to Have Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome with a Novel Mutation in the GATA3 Gene JO: Intern Med http://www.kidney.de/pget.php?&tw=1&pmid=28566604 #FOAvip Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is a rare autosomal dominant disease caused by GATA3 mutations. Although several cases with variable renal features have been reported, the presence of histological changes within the glomeruli in adult patients is unclear. We herein report an adult case of HDR syndrome with a novel p.C288W (TGC>TGG) missense mutation in GATA3. His renal histology showed a membranoproliferative glomerulonephritis-like glomerular lesion. Additional renal histological analyses of HDR syndrome patients will be needed to clarify the role of GATA3 in both the developing and adult kidney. Twit Text FOAVip Unusual Proliferative Glomerulonephritis in a Patient Diagnosed to Have Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome with a Novel Mutation in the GATA3 Gene ????Intern Med http://www.kidney.de/pget.php?&tw=1&pmid=28566604 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28566604 #FOAvip English Wikipedia <ref>{{Cite pmid|28566604 }}</ref> Unusual Proliferative Glomerulonephritis in a Patient Diagnosed to Have Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome with a Novel Mutation in the GATA3 Gene #MMPMID28566604 Kamezaki M ; Kusaba T ; Adachi T ; Yamashita N ; Nakata M ; Ota N ; Shiotsu Y ; Ishida M ; Usui T ; Tamagaki K Intern Med 2017[]; 56 (11 ): 1393-1397 PMID28566604 show ga Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is a rare autosomal dominant disease caused by GATA3 mutations. Although several cases with variable renal features have been reported, the presence of histological changes within the glomeruli in adult patients is unclear. We herein report an adult case of HDR syndrome with a novel p.C288W (TGC>TGG) missense mutation in GATA3. His renal histology showed a membranoproliferative glomerulonephritis-like glomerular lesion. Additional renal histological analyses of HDR syndrome patients will be needed to clarify the role of GATA3 in both the developing and adult kidney. |GATA3 Transcription Factor [MESH] |Glomerulonephritis/*etiology [MESH] |Hearing Loss, Sensorineural/*complications/*genetics [MESH] |Humans [MESH] |Hypoparathyroidism/*complications/*genetics [MESH] |Male [MESH] |Middle Aged [MESH] |Mutation, Missense [MESH]Unusual Proliferative Glomerulonephritis in a Patient Diagnosed to Hav(epmc).pdf DeepDyve Pubget Overpricing