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Widespread kidney anomalies in children with Down syndrome

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Abstract

Background

Rare autopsy studies have described smaller kidneys as well as urinary tract anomalies in Down syndrome. This observation has never been investigated in vivo and little is known about the possible consequences upon kidney function. Here we wish to confirm whether children with Down syndrome have smaller kidneys and to evaluate their kidney function in vivo.

Methods

This retrospective cohort study enrolled 49 children with Down syndrome, as well as 49 age- and sex-matched controls at the Queen Fabiola Children’s University Hospital in Brussels, Belgium. Doppler and kidney ultrasonography, spot urine albumin to creatinine ratio, estimated glomerular filtration rate (eGFR), and anthropometric data were recorded.

Results

Kidney size in children with Down syndrome was smaller than age- and sex-matched controls in terms of length (p < 0.001) and volume (p < 0.001). Kidney function based on eGFR was also decreased in Down syndrome compared to historical normal. Twenty-one of the children with Down syndrome (42%) had eGFR < 90 mL/min/1.73 m2, with 5 of these (10%) having an eGFR < 75 mL/min/1.73 m2. In addition, 7 of the children with Down syndrome (14%) had anomalies of the kidney and/or urinary tract that had previously been undiagnosed.

Conclusions

Children with Down syndrome have significantly smaller kidneys than age-matched controls as well as evidence of decreased kidney function. These findings, in addition to well-noted increased kidney and urologic anomalies, highlight the need for universal anatomical and functional assessment of all individuals with Down syndrome.

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Data Availability

All data are available upon request.

Abbreviations

eGFR:

Estimated glomerular filtration rate

CKD:

Chronic kidney disease

BSA:

Body surface area

IDMS:

Isotope-dilution mass spectrometry

PACS:

Picture archiving and communication system

SD:

Standard deviation

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Acknowledgements

The authors thank Olof H. Sundin, PhD, for suggestions regarding selection criteria for the control group, as well as Mrs. Laurence Seidel for her assistance with some of the statistical analyses.

Funding

This work was supported by The Belgian Kids’ Fund for Pediatric Research of the Queen Fabiola Children’s University Hospital and by the Department of Ophthalmology, Erasmus Hospital, Université Libre de Bruxelles, Brussels, Belgium. The funders had no role in the design and conduct of the study.

Author information

Authors and Affiliations

  1. Department of Ophthalmology, Queen Fabiola Children’s University Hospital, Université Libre de Bruxelles, Brussels, Belgium

    Lavinia Postolache

  2. The Division of Kidney, Urologic, and Hematologic Diseases, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD, USA

    Afshin Parsa

  3. Department of Radiology, Queen Fabiola Children’s University Hospital, Université Libre de Bruxelles, Brussels, Belgium

    Paolo Simoni & Grammatina Boitsios

  4. Department of Pediatrics, Queen Fabiola Children’s University Hospital, Université Libre de Bruxelles, Brussels, Belgium

    Khalid Ismaili, Thierry Schurmans, Anne Monier & Georges Casimir

  5. Department of Biostatistics, Liège University Hospital, Liège, Belgium

    Adelin Albert

  6. Department of Ophthalmology, Erasmus Hospital, Université Libre de Bruxelles, 808 Route de Lennik, B-1070, Brussels, Belgium

    Cameron F. Parsa

  7. Faculty of Medicine, Sorbonne University, Paris, France

    Cameron F. Parsa

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  1. Lavinia Postolache
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  2. Afshin Parsa
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  3. Paolo Simoni
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  8. Georges Casimir
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  9. Adelin Albert
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  10. Cameron F. Parsa
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Corresponding author

Correspondence to Cameron F. Parsa.

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Ethics approval

Approval for this study was obtained from the Institutional Review Boards and Institutional Ethics Committees of both the Queen Fabiola Children’s University Hospital (CEH 69/17) and the Erasmus Hospital (P2017/391; B4062017329655). All examinations were performed in accordance with the principles and tenets of the Declaration of Helsinki.

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Written informed consent was obtained for all subjects with both parents providing consent.

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The authors declare no competing interests.

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Postolache, L., Parsa, A., Simoni, P. et al. Widespread kidney anomalies in children with Down syndrome. Pediatr Nephrol 37, 2361–2368 (2022). https://doi.org/10.1007/s00467-022-05455-y

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  • DOI: https://doi.org/10.1007/s00467-022-05455-y

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