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Congenital cytomegalovirus infection is associated with congenital rickets: a retrospective autopsy cohort study
  1. Elaine S Chan1,2,
  2. Seemab Haider3,4,
  3. Surabhi Subramanian3,4,
  4. Weiming Yu1,2,
  5. Erik W Nohr1,2,
  6. Lawrence de Koning1,2
  1. 1 Department of Pathology and Laboratory Medicine, University of Calgary Cumming School of Medicine, Calgary, Alberta, Canada
  2. 2 Department of Pathology and Laboratory Medicine, Alberta Children's Hospital, Calgary, Alberta, Canada
  3. 3 Department of Radiology, University of Calgary Cumming School of Medicine, Calgary, Alberta, Canada
  4. 4 Department of Radiology, Alberta Children's Hospital, Calgary, Alberta, Canada
  1. Correspondence to Dr Elaine S Chan, Department of Pathology and Laboratory Medicine, University of Calgary Cumming School of Medicine, Calgary, Canada; elaine.chan{at}ucalgary.ca

https://doi.org/10.1136/archdischild-2022-324760

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    Congenital rickets is characterised by deficient bone mineralisation at the growth plate in utero. A review of published cases of congenital rickets found that maternal vitamin D deficiency likely contributes to its pathogenesis.1

    Two recent studies showed that human cytomegalovirus (CMV) led to a rapid, pronounced and persistent reduction of vitamin D receptor (VDR) mRNA expression in vitro and in vivo.2 3 This effect was specific to CMV and was not observed for other common viruses.2 VDR is essential for mediating the biological function of vitamin D and for bone development.4 Therefore, we hypothesised that congenital rickets could be observed in fetuses and neonates with congenital CMV (cCMV) infection.

    We searched our electronic autopsy database and retrospectively identified fetal and neonatal autopsies with a diagnosis of cCMV, performed at Alberta Children’s Hospital from 1 January 2006 to 31 October 2021. All autopsies were performed by perinatal pathologists with informed parental consent. We followed the Centers for Disease …

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    Footnotes

    • Presented at The findings were presented in an abstract form at the Society for Pediatric Pathologists 2022 Spring Meeting.

    • Contributors ESC and LdK designed the study and wrote the paper. ESC, WY and EWN performed the perinatal autopsies. SH and SS reviewed the X-rays. LdK performed the statistical analysis.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.