title: Rare co-occurrence of osteogenesis imperfecta type I and autosomal dominant polycystic kidney disease.
abstract: BACKGROUND
  There are several clinical reports about the co-occurrence of autosomal dominant polycystic kidney disease (ADPKD) and connective tissue disorders. A simultaneous occurrence of osteogenesis imperfecta (OI) type I and ADPKD has not been observed so far.
  
  
  METHODS
  This report presents the first patient with OI type I and ADPKD.
  
  
  RESULTS
  Mutational analysis of PKD1 and COL1A1 in the index patient revealed a heterozygous mutation in each of the two genes. Mutational analysis of the parents indicated the mother as a carrier of the PKD1 mutation and the father as a carrier of the COL1A1 mutation. The simultaneous occurrence of both disorders has an estimated frequency of 3.5:100 000 000.
  
  
  CONCLUSIONS
  In singular cases, ADPKD can occur in combination with other rare disorders, e.g. connective tissue disorders.
authors.affiliation: Center for Human Genetics and Laboratory Diagnostics Dr. Klein, Dr. Rost and Colleagues, Martinsried, Germany. julia.hoefele@tum.de.
authors.forename: Julia
authors.initials: J
authors.lastname: Hoefele
authors.affiliation: Center for Human Genetics and Laboratory Diagnostics Dr. Klein, Dr. Rost and Colleagues, Martinsried, Germany.
authors.forename: Karin
authors.initials: K
authors.lastname: Mayer
authors.affiliation: Center for Human Genetics and Laboratory Diagnostics Dr. Klein, Dr. Rost and Colleagues, Martinsried, Germany.
authors.forename: Christoph
authors.initials: C
authors.lastname: Marschall
authors.affiliation: Department of Infectious Diseases and Tropical Medicine, Ludwig-Maximilians University, Munich, Germany.
authors.forename: Martin
authors.initials: M
authors.lastname: Alberer
authors.affiliation: Center for Human Genetics and Laboratory Diagnostics Dr. Klein, Dr. Rost and Colleagues, Martinsried, Germany.
authors.forename: Hanns-Georg
authors.initials: HG
authors.lastname: Klein
authors.affiliation: Department of Pediatrics, General Hospital, Celle, Germany.
authors.forename: Martin
authors.initials: M
authors.lastname: Kirschstein
mesh_terms: D000293:Adolescent; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D004252:DNA Mutational Analysis; D005858:Germany; D006579:Heterozygote; D006801:Humans; D008297:Male; D010013:Osteogenesis Imperfecta / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D016891:Polycystic Kidney, Autosomal Dominant / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D035583:Rare Diseases; D050396:TRPP Cation Channels / Q000235:genetics*
chemical_list: D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D050396:TRPP Cation Channels
keywords: kidney disease; osteogenesis imperfecta; polycystic kidney