ArticlePediatric nephrology (Berlin, Germany)2012
Nephrological findings and genotype-phenotype correlation in Beckwith-Wiedemann syndrome.
Article in Pediatric nephrology (Berlin, Germany), 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 62 citations in OpenAlex.
- The UMBRELLA SIOP-RTSG 2016 Wilms tumour pathology and molecular biology protocol.Nature reviews. Urology · 2018Guideline
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- Porous perspectives: a comprehensive review of medullary sponge kidney.International urology and nephrology · 2025Review
- Renal MRI radiomics in Beckwith-Wiedemann syndrome: a novel imaging approach for genotype identification.Orphanet journal of rare diseases · 2025Article
- Article
- Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques.Clinical genetics · 2022Article
- Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Beckwith-Wiedemann Syndrome.Journal of personalized medicine · 2021Article
- Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance.International journal of molecular sciences · 2021Review
- Both Epimutations and Chromosome Aberrations Affect Multiple Imprinted Loci in Aggressive Wilms Tumors.Cancers · 2020Article
- Syndromic Disorders Caused by Disturbed Human ImprintingJournal of clinical research in pediatric endocrinology · 2020Review
- The effectiveness of Wilms tumor screening in Beckwith-Wiedemann spectrum.Journal of cancer research and clinical oncology · 2019Article
- Characterization of the Beckwith-Wiedemann spectrum: Diagnosis and management.American journal of medical genetics. Part C, Seminars in medical genetics · 2019Article
- Altered microRNA expression profiles in large offspring syndrome and Beckwith-Wiedemann syndrome.Epigenetics · 2019Article
- Unilateral testicular enlargement in a teenager with Beckwith-Wiedemann syndrome: a case report.Italian journal of pediatrics · 2019Article
- Beckwith-Wiedemann syndrome in diverse populations.American journal of medical genetics. Part A · 2019Article
- Imaging of Kidney Cysts and Cystic Kidney Diseases in Children: An International Working Group Consensus Statement.Radiology · 2019Article
- Diagnosis of Beckwith-Wiedemann syndrome in children presenting with Wilms tumor.Pediatric blood & cancer · 2018Article
- Primary renal diffuse large B-Cell lymphoma causing haemodialysis-dependent nephromegaly in a child.BMJ case reports · 2018Article
- Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply.European journal of human genetics : EJHG · 2018Article
- Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.Nature reviews. Endocrinology · 2018Review
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Authors and funding
12 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Beckwith-Wiedemann syndrome (BWS), an overgrowth disorder with several congenital abnormalities, encompasses nephrourological anomalies. The objective of the report is to analyze the latter and related genotype-phenotype correlations. The study was a retrospective review of nephrourological investigations and genotype in 67 BWS patients. Imaging and laboratory studies have been correlated with the molecular anomalies typical of BWS. Thirty-eight (56.7%) patients had a total of 61 nonmalignant nephrourological findings, including nephromegaly (n = 24), collecting system abnormalities (n = 14), cryptorchidism (n = 11), nephrolithiasis (n = 5), cysts (n = 5), and dysplasia (n = 1). Four patients had Wilms' tumor, all associated with renal hyperplasia. Renal findings were almost consistent in the BWS(IC1) group, with nephromegaly in all patients and collecting system abnormalities in half of them. BWS(UPD) and negative patients also had frequent anomalies (63.6% and 61.9% respectively), whereas only 36.0% of BWS(IC2) had renal findings (p = 0.003). Cryptorchidism was associated with abdominal wall defects (p < 0.001) appearing more frequently in BWS(IC2) (p = 0.028). Urinary tract infections were observed in 17.9% of patients, with two resulting in life-threatening sepsis. Hypercalciuria was present in 10% of cases. 55.5% of BWS patients have renal findings. Although variegate, these anomalies disclose a genotype-phenotype correlation.
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