title: Renal dysplasia characterized by prominent cartilaginous metaplasia lesions in VACTERL association: A case report.
abstract: BACKGROUND
  Renal dysplasia is the most important cause of end-stage renal disease in children. The histopathological characteristic of dysplasia is primitive tubules with fibromuscular disorganization. Renal dysplasia often includes metaplastic cartilage. Metaplastic cartilage in renal dysplasia has been explained as occurring secondary to vesicoureteral reflux (VUR). Additionally, renal dysplasia is observed in renal dysplasia-associated syndromes, which are combinations of multiple developmental malformations and include VACTERL association.
  
  
  METHODS
  We observed the following multiple developmental malformations in a 108-day-old male infant during a nephrectomy: a nonfunctioning right kidney with VUR, hemidiaphragmatic eventration, a ventricular septal defect (VSD) with tetralogy of Fallot in the heart, cryptorchidism, and hyperdactylia. These developmental anomalies satisfied the diagnostic criteria for VACTERL association. A surgical specimen of the right nonfunctioning kidney revealed prominent cartilaginous metaplasia in the renal dysplasia with VUR. The densities of the ectopic cartilaginous lesions in this nonfunctioning kidney were extraordinarily high compared with other renal dysplasia cases. Giemsa banding of his genome produced normal results. The patient has not undergone further detailed genomic investigation.
  
  
  CONCLUSIONS
  This case might be a novel type of VACTERL association, that is, renal dysplasia combined with prominent cartilaginous metaplasia, tetralogy of Fallot and VSD of the heart, hemidiaphragmatic eventration, and hyperdactylia.
authors.affiliation: Department of Pathology, Jichi Medical University Department of Pediatric Urology, Children's Medical Center Tochigi and Jichi Medical University, Shimotsuke, Tochigi Department of Pathology, Kanagawa Children's Medical Center, Yokohama, Kanagawa, Japan.
authors.forename: Takeo
authors.initials: T
authors.lastname: Nakaya
authors.forename: Taiju
authors.initials: T
authors.lastname: Hyuga
authors.forename: Yukichi
authors.initials: Y
authors.lastname: Tanaka
authors.forename: Shina
authors.initials: S
authors.lastname: Kawai
authors.forename: Hideo
authors.initials: H
authors.lastname: Nakai
authors.forename: Toshiro
authors.initials: T
authors.lastname: Niki
authors.forename: Akira
authors.initials: A
authors.lastname: Tanaka
mesh_terms: D001003:Anal Canal / Q000002:abnormalities* / Q000601:surgery; D002356:Cartilage / Q000473:pathology; D004947:Esophagus / Q000002:abnormalities* / Q000601:surgery; D006330:Heart Defects, Congenital / Q000150:complications* / Q000601:surgery; D006801:Humans; D007223:Infant; D007668:Kidney / Q000002:abnormalities* / Q000473:pathology* / Q000601:surgery; D007674:Kidney Diseases / Q000235:genetics / Q000473:pathology*; D017880:Limb Deformities, Congenital / Q000150:complications* / Q000601:surgery; D008297:Male; D008679:Metaplasia; D009392:Nephrectomy; D013131:Spine / Q000002:abnormalities* / Q000601:surgery; D014132:Trachea / Q000002:abnormalities* / Q000601:surgery