Frequency of renal malformations in Turner syndrome: analysis of 82 Turkish children
Abstract
We evaluated the frequency of renal malformations in relation to nonmosaic 45,X (group A, 45 patients, 54.9%) and mosaic/structural abnormalities of X (group B, 37 patients, 45.1%) in 82 Turkish patients with Turner syndrome (TS). Ultrasonography of the kidneys and collecting system was performed in all patients. Of the 82 patients, 31 had different renal malformations (37.8%). Horse-shoe kidney was observed in 9 (29.0%) of the 31 patients, and 17 patients (54.8%) had various collecting system malformations, while 5 (16.2%) had malrotation and other positional abnormalities. The prevalence of renal malformations was significantly higher in group A (51.1%) than group B (21.6%) (2:7.94, P<0.05). Although 8 of the 9 patients with horse-shoe kidney had the 45,X karyotype, collecting system malformations were observed more frequently in group B. Recurrent urinary tract infections (UTIs) were detected during follow-up in 7 patients, and hypertension developed in 3 patients. In patients who had a normal baseline nephrological evaluation, no problem suggesting renal disease developed during follow-up. We conclude that all forms of TS should have routine nephrological screening on diagnosis, since structural malformations of the kidney occur more frequently in nonmosaic 45,X TS, while collecting system malformations are mostly seen in mosaic/structural X forms. Those included in the group for nephrological follow-up had an increased risk for hypertension and/or UTI.
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Structural renal anomalies may occasionally predispose to urinary tract infections or impaired renal function.
“Structural renal anomalies may occasionally predispose to urinary tract infections or impaired renal function.688”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [688]
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- Authors
- Bilge, I., Kayserili, H., Emre, S., Nayir, A., Sirin, A., Tukel, T., Bas, F., Kilic, G., Basaran, S., Gunoz, H., & Apak, M.
- Affiliations
- Istanbul University (TR)
- Venue
- Pediatric Nephrology
- Published
- 2000-09-27
- Volume
- 14
- Issue
- 12
- Pages
- 1111-1114
- ISSN
- 0931-041X (ISSN-L)
- 1432-198X
- OpenAlex
- W1972010943
- Cited by
- 77
- References
- 11
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 6 · 2023: 5 · 2022: 4 · 2021: 6 · 2020: 3 · 2019: 3 · 2018: 2 · 2017: 2 · 2016: 3 · 2015: 11 · 2014: 2 · 2013: 1 · 2012: 2
- FWCI
- 0.20
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Pediatric Nephrology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Pediatric Urology and Nephrology Studies
- Health Sciences › Medicine › Urology › Urological Disorders and Treatments
- Keywords
- Turner syndrome, renal anomalies, horseshoe kidney, renal malrotation, recurrent urinary tract infection, hypertension, Turkish children
- MeSH terms
- Congenital Abnormalities, Adolescent, Adult, Child, Child, Preschool, Female, Humans, Hypertension, Infant, Infant, Newborn, Kidney, Kidney Tubules, Collecting, Monosomy, Mosaicism, Turkey, Turner Syndrome, Ultrasonography, Urinary Tract Infections, X Chromosome, Incidence
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