Kidney and urogenital abnormalities in Down syndrome: a meta-analysis

Abstract Background Reviews on Down syndrome do not or only marginally address the issue of kidney and urogenital tract abnormalities, and lower urinary tract dysfunctions. Hence, we performed a meta-analysis of the literature.  Methods A literature search was undertaken in the Library of Medicine,...

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Main Authors: Caterina Maria Rossetti, Giacomo D. Simonetti, Mario G. Bianchetti, Sebastiano A. G. Lava, Giorgio Treglia, Carlo Agostoni, Gregorio P. Milani, J. Peter de Winter
Format: Article
Language:English
Published: BMC 2024-04-01
Series:Italian Journal of Pediatrics
Subjects:
Online Access:https://doi.org/10.1186/s13052-024-01636-7
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author Caterina Maria Rossetti
Giacomo D. Simonetti
Mario G. Bianchetti
Sebastiano A. G. Lava
Giorgio Treglia
Carlo Agostoni
Gregorio P. Milani
J. Peter de Winter
author_facet Caterina Maria Rossetti
Giacomo D. Simonetti
Mario G. Bianchetti
Sebastiano A. G. Lava
Giorgio Treglia
Carlo Agostoni
Gregorio P. Milani
J. Peter de Winter
author_sort Caterina Maria Rossetti
collection DOAJ
description Abstract Background Reviews on Down syndrome do not or only marginally address the issue of kidney and urogenital tract abnormalities, and lower urinary tract dysfunctions. Hence, we performed a meta-analysis of the literature.  Methods A literature search was undertaken in the Library of Medicine, Web of Science and Excerpta Medica. The search algorithm combined various keywords: (Down syndrome OR trisomy 21 OR mongolism) AND (kidney OR urinary tract OR bladder) AND (malformation OR dysfunction OR anomaly OR abnormality OR size). The Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement was used. Results Eight case-control studies were retained for the final analysis. Three studies addressed the prevalence of kidney and urogenital tract abnormalities: an increased pooled relative risk of 5.49 (95%-CI: 1.78–16.93) was observed in Down syndrome. Penile malformations, obstructive malformations (including urethral valves), dilated urinary tract system, and kidney hypodysplasia were especially common. Three reports addressed the prevalence of lower urinary tract dysfunction: an increased pooled relative risk of 2.95 (95%-CI: 1.15–7.56) was observed. Finally, an autoptic study and an ultrasound study disclosed a reduced kidney size in Down syndrome. Conclusions This meta-analysis indicates that abnormalities of the kidney and urogenital tract, lower urinary tract dysfunctions, and a reduced kidney size present with an increased frequency in individuals with Down syndrome.
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spelling doaj.art-a237cd8583524d718d985b9e4dcf05c92024-04-21T11:25:27ZengBMCItalian Journal of Pediatrics1824-72882024-04-015011710.1186/s13052-024-01636-7Kidney and urogenital abnormalities in Down syndrome: a meta-analysisCaterina Maria Rossetti0Giacomo D. Simonetti1Mario G. Bianchetti2Sebastiano A. G. Lava3Giorgio Treglia4Carlo Agostoni5Gregorio P. Milani6J. Peter de Winter7Pediatric Institute of Southern Switzerland, Ente Ospedaliero CantonalePediatric Institute of Southern Switzerland, Ente Ospedaliero CantonalePediatric Institute of Southern Switzerland, Ente Ospedaliero CantonalePediatric Cardiology Unit, Department of Pediatrics, Centre Hospitalier Universitaire Vaudois and University of LausanneFaculty of Biomedical Sciences, Università della Svizzera ItalianaPediatric Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore PoliclinicoPediatric Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore PoliclinicoDepartment of Development and RegenerationAbstract Background Reviews on Down syndrome do not or only marginally address the issue of kidney and urogenital tract abnormalities, and lower urinary tract dysfunctions. Hence, we performed a meta-analysis of the literature.  Methods A literature search was undertaken in the Library of Medicine, Web of Science and Excerpta Medica. The search algorithm combined various keywords: (Down syndrome OR trisomy 21 OR mongolism) AND (kidney OR urinary tract OR bladder) AND (malformation OR dysfunction OR anomaly OR abnormality OR size). The Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement was used. Results Eight case-control studies were retained for the final analysis. Three studies addressed the prevalence of kidney and urogenital tract abnormalities: an increased pooled relative risk of 5.49 (95%-CI: 1.78–16.93) was observed in Down syndrome. Penile malformations, obstructive malformations (including urethral valves), dilated urinary tract system, and kidney hypodysplasia were especially common. Three reports addressed the prevalence of lower urinary tract dysfunction: an increased pooled relative risk of 2.95 (95%-CI: 1.15–7.56) was observed. Finally, an autoptic study and an ultrasound study disclosed a reduced kidney size in Down syndrome. Conclusions This meta-analysis indicates that abnormalities of the kidney and urogenital tract, lower urinary tract dysfunctions, and a reduced kidney size present with an increased frequency in individuals with Down syndrome.https://doi.org/10.1186/s13052-024-01636-7Down syndromeKidney sizeUrogenital abnormalitiesDysfunction of the urinary bladderMeta-analysis
spellingShingle Caterina Maria Rossetti
Giacomo D. Simonetti
Mario G. Bianchetti
Sebastiano A. G. Lava
Giorgio Treglia
Carlo Agostoni
Gregorio P. Milani
J. Peter de Winter
Kidney and urogenital abnormalities in Down syndrome: a meta-analysis
Italian Journal of Pediatrics
Down syndrome
Kidney size
Urogenital abnormalities
Dysfunction of the urinary bladder
Meta-analysis
title Kidney and urogenital abnormalities in Down syndrome: a meta-analysis
title_full Kidney and urogenital abnormalities in Down syndrome: a meta-analysis
title_fullStr Kidney and urogenital abnormalities in Down syndrome: a meta-analysis
title_full_unstemmed Kidney and urogenital abnormalities in Down syndrome: a meta-analysis
title_short Kidney and urogenital abnormalities in Down syndrome: a meta-analysis
title_sort kidney and urogenital abnormalities in down syndrome a meta analysis
topic Down syndrome
Kidney size
Urogenital abnormalities
Dysfunction of the urinary bladder
Meta-analysis
url https://doi.org/10.1186/s13052-024-01636-7
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