title: Situs inversus and cystic kidney disease: Two adult patients with this Heterogeneous syndrome.
abstract: 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.
  
  
  METHODS
  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.
authors.affiliation: Division of Rheumatology, Department of Internal Medicine, Kanazawa University Graduate School of Medicine, Kanazawa, Japan.
authors.forename: Tamehito
authors.initials: T
authors.lastname: Onoe
authors.forename: Tadashi
authors.initials: T
authors.lastname: Konoshita
authors.forename: Koichi
authors.initials: K
authors.lastname: Tsuneyama
authors.forename: Ryoko
authors.initials: R
authors.lastname: Hamano
authors.forename: Ichiro
authors.initials: I
authors.lastname: Mizushima
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Kakuchi
authors.forename: Kazunori
authors.initials: K
authors.lastname: Yamada
authors.forename: Kenshi
authors.initials: K
authors.lastname: Hayashi
authors.forename: Masahiro
authors.initials: M
authors.lastname: Kuroda
authors.forename: Satoshi
authors.initials: S
authors.lastname: Kagitani
authors.forename: Hideki
authors.initials: H
authors.lastname: Nomura
authors.forename: Masakazu
authors.initials: M
authors.lastname: Yamagishi
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Kawano
keywords: ADPKD; cystic kidney disease; situs inversus