ArticleCase reports in nephrology and dialysis
The First Pediatric Case of an IFT140 Heterozygous Deletion Causing Autosomal Dominant Polycystic Kidney Disease: Case Report.
Article in Case reports in nephrology and dialysis. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study.Clinical journal of the American Society of Nephrology : CJASN · 2026Observational
- Polycystic Kidney Disease in Children: The Current Status and the Next Horizon.American journal of kidney diseases : the official journal of the National Kidney Foundation · 2025Review
- Article
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5 authors.
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Abstract
Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease, which is mainly caused by pathogenic variants in two particular genes: Case Report: In a 6-year-old girl examined for abdominal pain, a cystic mass in the upper part of the right kidney was detected during an abdominal ultrasound. She was referred to pediatric oncology and urology for suspicion of a tumorous mass and the condition was assessed as a cystic nephroma. A heminephrectomy was then performed on the upper cystic part of the right kidney. The histological examination was inconclusive; therefore, genetic testing was recommended. Kidney and liver cysts were detected sonographically in the mother, but DNA analysis of the Conclusion: Pathogenic variants of the
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