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Situs inversus and cystic kidney disease: Two adult patients with this heterogeneous syndrome
http://hdl.handle.net/2297/48240
http://hdl.handle.net/2297/482407d1ef734-1244-494c-a505-fbf3313f8fce
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
ME-PR-YAMAGISHI-M-20.pdf (3.2 MB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||
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| 公開日 | 2017-10-03 | |||||
| タイトル | ||||||
| タイトル | Situs inversus and cystic kidney disease: Two adult patients with this heterogeneous syndrome | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| 資源タイプ | ||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
| 資源タイプ | journal article | |||||
| 著者 |
Onoe, Tamehito
× Onoe, Tamehito× Konoshita, Tadashi× Tsuneyama, Koichi× Hamano, Ryoko× Mizushima, Ichiro× Kakuchi, Yasushi× Yamada, Kazunori× Hayashi, Kenshi× Kuroda, Masahiro× Kagitani, Satoshi× Nomura, Hideki× Yamagishi, Masakazu× Kawano, Mitsuhiro |
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| 書誌情報 |
American Journal of Case Reports 巻 14, p. 20-25, 発行日 2013-01-28 |
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| ISSN | ||||||
| 収録物識別子タイプ | ISSN | |||||
| 収録物識別子 | 1941-5923 | |||||
| DOI | ||||||
| 関連タイプ | isIdenticalTo | |||||
| 識別子タイプ | DOI | |||||
| 関連識別子 | 10.12659/AJCR.883751 | |||||
| 出版者 | ||||||
| 出版者 | International Scientific Information | |||||
| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | Background: Situs inversus is a rare complication of cystic kidney diseases. Only three genes, INVS (NPHP2), NPHP3 and PKD2 have been proved to be responsible for some cases, while the responsible genes in many others are still unknown. Case Reports: Here we report two male patients with situs inversus combined with cystic kidney disease without any family history of polycystic kidney disease. Their renal function was normal in childhood but culminated in end stage renal disease in middle age. No pathogenic mutations were found in mutation analysis of INVS, IFT88, PKD2, UMOD or NPHP3 in them. Conclusions: Past reported cases of situs inversus and cystic kidney diseases were divided into three groups, i.e., gestational lethal renal dysplasia group, infantile or juvenile nephronophthisis group and polycystic kidney disease group. The present patients are different from each of these groups. Moreover, the renal lesions of the present two cases are quite different from each other, with one showing mildly atrophic kidneys with small numbers of cysts and the other an enlarged polycystic kidney disease, suggesting very heterogeneous entities. | |||||
| 権利 | ||||||
| 権利情報 | Copyright © International Scientific Information | |||||
| 著者版フラグ | ||||||
| 出版タイプ | VoR | |||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
| 関連URI | ||||||
| 識別子タイプ | URI | |||||
| 関連識別子 | http://www.amjcaserep.com/abstract/index/idArt/883751 | |||||
