ArticleTranslational pediatrics2021
Improving renal phenotype and evolving extra-renal features of 17q12 deletion encompassing the
Article in Translational pediatrics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 16 citations in OpenAlex.
- Reversed cortico-medullary differentiation in kidneys on fetal magnetic resonance imaging - a case series.Pediatric nephrology (Berlin, Germany) · 2026Article
- Clinical Spectrum and Early Renal Functional Variability in a Nationwide Greek Pediatric HNF1B Multicenter Cohort.Journal of clinical medicine · 2026Article
- 17q12 Recurrent Deletion Syndrome in Childhood.Genes · 2025Review
- A Diagnosis of Maturity-onset Diabetes of the Young Type 5 Provides Clarity and Broadens Reproductive Options.JCEM case reports · 2025Article
- Etiology and outcomes of fetal renal abnormalities in Southern China: a single-tertiary-center study.Orphanet journal of rare diseases · 2025Article
- Genetic Analysis of Prenatal Renal Abnormalities in 17q12 Microdeletion Syndrome.Maternal-fetal medicine (Wolters Kluwer Health, Inc.) · 2025Article
- Review
- Article
- Pregnancy outcome with maternalObstetric medicine · 2023Review
- HNF1B variant without hyperglycaemia as a cause of isolated profound hypomagnesaemia.BMJ case reports · 2023Article
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
background
methodsIn this observational study, we present postnatal follow-up findings in 5 of 6 cases (one pregnancy was terminated on parental request) of fetal-onset cystic/hyperechogenic kidneys eventually diagnosed with 17q12 microdeletion encompassing the
resultsComplete normalization of kidney parenchymal abnormalities and of depressed neonatal renal function was observed in 4/5 and 5/5 patients within 2-4.9 years and 1.5-8 months, respectively. All 5 patients had preserved normal renal function at 3-11 years of follow-up. The evolving later-onset renal features included: hypomagnesemia, hyperuricemia, urinary tract infection (UTI), and bilateral grade 3-4 vesicoureteral reflux and bladder diverticula in 3, 3, 2, and 1 patient, respectively.
conclusionsFetal-onset
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.