ArticleAmerican journal of human genetics1997
Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 101 papers, 1 of them a synthesis that pooled it.
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Who cites it
101 citing papers in PubMed, 1 synthesis or guideline pooled it, 373 citations in OpenAlex.
- International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people.Nature reviews. Nephrology · 2019Guideline
- Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.European journal of human genetics : EJHG · 2015Trial
- ift140 -Deficient Zebrafish as a Model for Kidney Cystogenesis and an F0-Based Screen for Genetic Modifiers of Kidney Cysts.Journal of the American Society of Nephrology : JASN · 2026Article
- Case Report: A case of ruptured renal epithelioid angiomyolipoma leading to the diagnosis of TSC2/PKD1 contiguous gene syndrome.Frontiers in pediatrics · 2026Article
- Tuberous Sclerosis Complex Caused byAnnals of laboratory medicine · 2025Article
- Tuberous sclerosis complex-associated kidney disease in children.Pediatric nephrology (Berlin, Germany) · 2025Review
- Imaging Diagnosis of Major Kidney and Urinary Tract Disorders in Children.Medicina (Kaunas, Lithuania) · 2025Review
- Tuberous sclerosis presenting along with autosomal dominant polycystic kidney disease (ADPKD): A rare presentation.Bioinformation · 2025Article
- Targeting interleukin-1 signaling for renoprotection.Frontiers in immunology · 2025Review
- A child with TSC2/PKD1 contiguous gene deletion syndrome successfully treated with tolvaptan for rapidly enlarging renal cysts.CEN case reports · 2024Article
- Progressive Polycystic Kidney Disease in an Infant Girl With TSC2/PKD1 Contiguous Gene Syndrome.Cureus · 2024Article
- Clinical practice recommendations for kidney involvement in tuberous sclerosis complex: a consensus statement by the ERKNet Working Group for Autosomal Dominant Structural Kidney Disorders and the ERA Genes & Kidney Working Group.Nature reviews. Nephrology · 2024Review
- Single variant, yet "double trouble": TSC and KBG syndrome because of a large de novo inversion.Life science alliance · 2024Article
- Review
- Cystic kidney disease in tuberous sclerosis complex: current knowledge and unresolved questions.Pediatric nephrology (Berlin, Germany) · 2023Article
- Genetic Spectrum of Polycystic Kidney and Liver Diseases and the Resulting Phenotypes.Advances in kidney disease and health · 2023Review
- Article
- Modeling genetic mosaicism of the mammalian target of rapamycin pathway in the cerebral cortex.Frontiers in mammal science · 2023Article
- Hereditary thrombotic thrombocytopenic purpura (TTP) with co-occurring autosomal dominant polycystic kidney disease (ADPKD).BMJ case reports · 2022Article
- Identification and Characterization of Novel Mutations in Chronic Kidney Disease (CKD) and Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Saudi Subjects by Whole-Exome Sequencing.Medicina (Kaunas, Lithuania) · 2022Article
41 more citing papers are in PubMed but not listed here.
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Authors and funding
10 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Tuberous sclerosis is an autosomal dominant trait characterized by the development of hamartomatous growths in many organs. Renal cysts are also a frequent manifestation. Major genes for tuberous sclerosis and autosomal dominant polycystic kidney disease, TSC2 and PKD1, respectively, lie adjacent to each other at chromosome 16p13.3, suggesting a role for PKD1 in the etiology of renal cystic disease in tuberous sclerosis. We studied 27 unrelated patients with tuberous sclerosis and renal cystic disease. Clinical histories and radiographic features were reviewed, and renal function was assessed. We sought mutations at the TSC2 and PKD1 loci, using pulsed field- and conventional-gel electrophoresis and FISH. Twenty-two patients had contiguous deletions of TSC2 and PKD1. In 17 patients with constitutional deletions, cystic disease was severe, with early renal insufficiency. One patient with deletion of TSC2 and of only the 3' UTR of PKD1 had few cysts. Four patients were somatic mosaics; the severity of their cystic disease varied considerably. Mosaicism and mild cystic disease also were demonstrated in parents of 3 of the constitutionally deleted patients. Five patients without contiguous deletions had relatively mild cystic disease, 3 of whom had gross rearrangements of TSC2 and 2 in whom no mutation was identified. Significant renal cystic disease in tuberous sclerosis usually reflects mutational involvement of the PKD1 gene, and mosaicism for large deletions of TSC2 and PKD1 is a frequent phenomenon.
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