ArticleClinical medicine insights. Pediatrics2021
New PAX2 Mutation Associated with Polycystic Kidney Disease: A Case Report.
Article in Clinical medicine insights. Pediatrics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 8 citations in OpenAlex.
- Epigenetic, Genetic, and Functional Germline Alterations ofCurrent issues in molecular biology · 2026Review
- Article
- A Novel Pathogenic Variant inCase reports in obstetrics and gynecology · 2026Article
- A Novel Synonymous Variant of PAX2 in Monochorionic Diamniotic Twins With Bilateral Renal Agenesis: A Case Report and Literature Review.Molecular genetics & genomic medicine · 2025Review
- Genetic and radiological aspects of pediatric renal cystic disease: A case seriesBiomedica : revista del Instituto Nacional de Salud · 2024Article
- Review
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCongenital anomalies of the kidney and urinary tract (CAKUT) are the leading cause of end stage renal disease in children. Diagnosis by genetic testing has proven challenging due to its genetic and phenotypic heterogeneity, as well as incomplete penetrance. We report a case on a 16-months old female with a history of renal cysts and a CASE PRESENTATION: The patient presented with a prenatal diagnosis of Potter sequence and a postnatal diagnosis of renal cysts. An ultrasound at 20 weeks gestation revealed right renal agenesis and possible left renal dysplasia. Post natal genetic analyses identified a novel mutation in
conclusionCystic kidney disease is often underdiagnosed due to its variable expressivity and wide range of clinical manifestations;
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Registered trials
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