ArticleBMJ case reports2014
Tuberous sclerosis complex with autosomal dominant polycystic kidney disease: a rare duo.
Article in BMJ case reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 14 citations in OpenAlex.
- Kidney transplantation in patients with tuberous sclerosis complex.Pediatric transplantation · 2024Article
- The Importance of Genetic Testing in the Differential Diagnosis of Atypical TSC2-PKD1 Contiguous Gene Syndrome-Case Series.Children (Basel, Switzerland) · 2023Article
- TSC2/PKD1 contiguous deletion syndrome in a pregnant woman: A case report.Frontiers in medicine · 2023Article
- Renal Manifestations of Tuberous Sclerosis Complex.Journal of kidney cancer and VHL · 2020Review
- Exome sequencing of Saudi Arabian patients with ADPKD.Renal failure · 2019Article
- A case report of giant hamartoma of both kidneys with spontaneous rupture and hemorrhage in a pregnant woman: A case report.Biomedical reports · 2019Article
- Is polycystic kidney disease associated with malignancy in children?Molecular genetics & genomic medicine · 2019Article
- Update on the Application of Ultrasonography in Understanding Autosomal Dominant Polycystic Kidney Disease.Journal of medical ultrasoundReview
- Endovascular treatment of intrarenal aneurysms bleeding and angiomyolipomas in a patient with tuberous sclerosis and polycystic kidney disease.Jornal brasileiro de nefrologiaArticle
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Tuberous sclerosis complex (TSC) is an autosomal dominant condition characterised by the presence of multiple hamartomas in various organ systems in the body. The kidneys are affected in 80% of patients, usually in the form of renal angiomyolipomas, renal cysts or renal cell carcinoma. Although extremely rare, TSC and autosomal dominant polycystic kidney disease (ADPKD) can co-exist in the same patient as a result of concurrent deletion of both polycystic kidney disease (PKD) 1 and TSC2 genes present on the chromosome 16p13.3. These patients develop end-stage renal disease at an earlier age and have an increased risk of malignancy. We present a case of a 30-year-old man with a history of tuberous sclerosis, presenting with loin pain and subsequently diagnosed to have ADPKD.
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