Situs inversus and cystic kidney disease: Two adult patients with this heterogeneous syndrome

Situs inversus and cystic kidney disease: Two adult patients with this heterogeneous syndrome

フォーマット:

論文

責任表示:

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

言語:

英語

出版情報:

International Scientific Information, 2013-01-28

著者名:

掲載情報:

American Journal of Case Reports

ISSN:

1941-5923

巻:

14

開始ページ:

20

終了ページ:

25

バージョン:

publisher

概要:

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. 続きを見る

URL:

http://hdl.handle.net/2297/48240

タイトル・著者・出版者が同じ資料

詳細

主題:	Autosomal Dominant; Cystic; Kidney Diseases; Polycystic Kidney; Situs Inversus
受理日:	2013-01-28

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