← brief for 2026-09-05 · Slowing decline

Imaging features of TSC2/PKD1 contiguous gene deletion syndrome in adults

Paper C Peer reviewed Observational

Key takeaways

This report describes what body scans show in adults missing a stretch of DNA that covers two genes at once, TSC2 and PKD1. Losing PKD1 causes polycystic kidney disease, where fluid-filled sacs crowd out working kidney tissue. Losing TSC2 adds growths in other organs. It is a description of imaging in patients who already have the condition, so it tells doctors what to look for, not what causes what.

Who did this work

Julien Bitton (Hôpital Necker-Enfants Malades) · Idris Boudhabhay (Hôpital Necker-Enfants Malades) · Charles Dariane (Université Paris Cité) · Marie Essig (Hôpital Ambroise-Paré) · Jérôme Tourret (Sorbonne Université) · Marie-Pierre Audrezet (Centre Hospitalier Régional Universitaire de Brest) · Aurélie Hummel (Hôpital Necker-Enfants Malades) · Bertrand Knebelmann (Hôpital Necker-Enfants Malades) · Jean-Michel Corréas (Hôpital Necker-Enfants Malades) · O. Hélénon (Hôpital Necker-Enfants Malades) · Sylvain Bodard (Hôpital Necker-Enfants Malades)

Source

Paper · OpenAlex, Kidney disease concept sweep (verified C2778653478) · 2026-09-04
https://doi.org/10.1007/s00261-026-05768-8