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

World J Pediatr. 2016 Nov;12(4):501-503. doi: 10.1007/s12519-016-0014-1. Epub 2016 Apr 8.

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.

Keywords: kidney disease; osteogenesis imperfecta; polycystic kidney.

MeSH terms

  • Adolescent
  • Collagen Type I / genetics*
  • Collagen Type I, alpha 1 Chain
  • DNA Mutational Analysis
  • Germany
  • Heterozygote
  • Humans
  • Male
  • Osteogenesis Imperfecta / complications*
  • Osteogenesis Imperfecta / diagnosis
  • Osteogenesis Imperfecta / genetics
  • Polycystic Kidney, Autosomal Dominant / complications*
  • Polycystic Kidney, Autosomal Dominant / diagnosis
  • Polycystic Kidney, Autosomal Dominant / genetics
  • Rare Diseases
  • TRPP Cation Channels / genetics*

Substances

  • Collagen Type I
  • Collagen Type I, alpha 1 Chain
  • TRPP Cation Channels
  • polycystic kidney disease 1 protein