Julia Hoefele1, Karin Mayer2, Christoph Marschall2, Martin Alberer3, Hanns-Georg Klein2, Martin Kirschstein4. 1. Center for Human Genetics and Laboratory Diagnostics Dr. Klein, Dr. Rost and Colleagues, Martinsried, Germany. julia.hoefele@tum.de. 2. Center for Human Genetics and Laboratory Diagnostics Dr. Klein, Dr. Rost and Colleagues, Martinsried, Germany. 3. Department of Infectious Diseases and Tropical Medicine, Ludwig-Maximilians University, Munich, Germany. 4. Department of Pediatrics, General Hospital, Celle, Germany.
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. CONCLUSION: In singular cases, ADPKD can occur in combination with other rare disorders, e.g. connective tissue disorders.
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. CONCLUSION: In singular cases, ADPKD can occur in combination with other rare disorders, e.g. connective tissue disorders.
Authors: George J Schwartz; Alvaro Muñoz; Michael F Schneider; Robert H Mak; Frederick Kaskel; Bradley A Warady; Susan L Furth Journal: J Am Soc Nephrol Date: 2009-01-21 Impact factor: 10.121