Weekly issue 2026-W36 ·
Imaging features of TSC2/PKD1 contiguous gene deletion syndrome in adults
Plain language
TSC2/PKD1 contiguous gene deletion syndrome is a rare genetic condition in which one missing piece of DNA affects two neighbouring genes, causing both polycystic kidney disease and tuberous sclerosis complex. This study describes the scans of 9 adults with the syndrome. All had large kidneys with many cysts, most also had angiomyolipomas (non-cancerous kidney growths made of fat, muscle and blood vessels), and two in three had reached kidney failure, at a typical age of 25. Finding angiomyolipomas together with ADPKD-like cysts should make doctors think of this syndrome, which matters for follow-up and genetic counselling.
Clinical note
Multicentre retrospective series, n=9 adults (6 F; mean age 29 ± 8) with genetically confirmed TSC2/PKD1 CGS; MRI/CT/US reviewed independently by two radiologists. Mean TKV 2134 ± 904 mL, hTKV 1260 ± 471 mL/m; median 45 cysts per kidney; 7/8 classifiable patients Mayo 1E — but Mayo class is validated in ADPKD and not transposable here, as volume includes AML tissue. AMLs in 78% (fat-rich and fat-poor); ESKD in 67% at median 25 years. Extrarenal: cortical tubers and subependymal nodules in all, hepatic cysts 56%, hepatic AMLs 33%, LAM 22%, cardiac rhabdomyomas 22%. AML in an ADPKD-like kidney should prompt CGS consideration and genetics referral. Very small series.
Question for your next visit
Could my kidney cysts be part of a different genetic condition, and would genetic testing change how I am followed up?