Rare co-occurrence of osteogenesis imperfecta type I and autosomal dominant polycystic kidney disease

Hoefele, Julia; Mayer, Karin; Marschall, Christoph; Alberer, Martin; Klein, Hanns-Georg und Kirschstein, Martin (2016): Rare co-occurrence of osteogenesis imperfecta type I and autosomal dominant polycystic kidney disease. In: World Journal of Pediatrics, Bd. 12, Nr. 4: S. 501-503

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 (01) 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. Conclusion: In singular cases, ADPKD can occur in combination with other rare disorders, e.g. connective tissue disorders.

• Dokumententyp: Zeitschriftenartikel
• Fakultät: Medizin
• Themengebiete: 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin und Gesundheit
• ISSN: 1708-8569
• Sprache: Englisch