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Article

Multicystic Kidney Disease in a Family With Tuberous Sclerosis Complex.

Nephrology (Carlton, Vic.) - 1 Mar 2026

Donald Julia S, Edmonstone Caitlin, Chan Denise L, Chung Clara W T, Kennedy Sean E

Abstract excerpt

Tuberous sclerosis complex (TSC) is a multisystem condition associated with disease-causing variants of either TSC1 or TSC2 genes. Significant kidney involvement in TSC is most often due to development of angiomyolipomas (AMLs) and occurs more frequently in people with TSC2 variants. Kidney cysts are also commonly seen; however, these are usually small and not recognised as problematic. A subset of patients has a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41765377
DOI: 10.1111/nep.70177
PMCID: PMC12950334

Genes

TSC2
TSC1
PKD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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