ArticlePediatric nephrology (Berlin, Germany)2013
Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease.
Article in Pediatric nephrology (Berlin, Germany), 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Results of Multigene Panel Testing, IncludingKidney medicine · 2026Article
- Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses.Human genomics · 2025Article
- Autosomal Dominant Polycystic Kidney Disease: From Pathogenesis to Organoid Disease Models.Biomedicines · 2025Review
- Targeted long-read sequencing enables higher diagnostic yield of ADPKD by accurate PKD1 genetic analysis.NPJ genomic medicine · 2025Article
- Primary Cilia Elongation in Early-Onset Polycystic Kidney Disease with 2 HypomorphicKidney medicine · 2024Article
- Co-Inheritance of Pathogenic Variants inGenes · 2023Article
- The CommonHuman mutation · 2023Article
- Tolvaptan ameliorated kidney function for one elderly autosomal dominant polycystic kidney disease patient: A case report.World journal of clinical cases · 2022Article
- Deep learning is widely applicable to phenotyping embryonic development and disease.Development (Cambridge, England) · 2021Article
- Reconsidering Genetic Testing for Neonatal Polycystic Kidney Disease.Kidney international reports · 2020Article
- Monkeys mutant for PKD1 recapitulate human autosomal dominant polycystic kidney disease.Nature communications · 2019Article
- Prenatal ultrasonography of autosomal dominant polycystic kidney disease mimicking recessive type: case series.Pediatric radiology · 2019Article
- Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.Journal of the American Society of Nephrology : JASN · 2018Review
- Tolvaptan treatment for severe neonatal autosomal-dominant polycystic kidney disease.Pediatric nephrology (Berlin, Germany) · 2017Article
- Hyponatremia and cyst growth in neonatal polycystic kidney disease: a case for aquaretics?Pediatric nephrology (Berlin, Germany) · 2017Article
Corrections and comments
- Erratum issued
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDominant polycystic kidney disease is common and usually presents clinically in adulthood. Recessive polycystic kidney disease is much less common and frequently presents antenatally or in the neonatal period with severe renal involvement. These are usually thought of as clinically distinct entities but diagnostic confusion is not infrequent. CASE-DIAGNOSIS/TREATMENT: We describe an infant with antenatally diagnosed massive renal enlargement and oligohydramnios with no resolvable cysts on ultrasound scanning. He underwent bilateral nephrectomy because of respiratory compromise and poor renal function but died subsequently of overwhelming sepsis. Genetic analysis revealed that he had bilineal inheritance of abnormalities of PKD1 and no demonstrable abnormalities of PKD2 or PKHD1.
conclusionsBiallelic inheritance of abnormalities of PKD1 may causextremely severe disease resembling autosomal recessive polycystic kidney disease (ARPKD) which can result indiagnostic confusion. Accurate diagnosis is essential forgenetic counseling [corrected].
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