{"id":"40672040194a","type":"article","url":"https://hartvaat.nl/2026/03/01/tsc2-pkd1-contigue-gendeletiesyndroom/","title":"TSC2/PKD1 contigue gendeletiesyndroom","title_en":"TSC2/PKD1 contiguous gene deletion syndrome","category":"chronische nierziekte","category_label":"Nierziekte","professions":["internist"],"tags":[],"journal":"Kidney International","doi":"https://www.kidney-international.org/article/S0085-2538(25)00739-2/fulltext","source_url":"https://doi.org/https://www.kidney-international.org/article/S0085-2538(25)00739-2/fulltext","authors":["Jean Bertrand","Ysaline Zizi","Dana Dumitriu","Valentine Gillion","Yves Sznajer","Eric Olinger","Nathalie Demoulin"],"significance":4,"published":"2026-03-01","source_date":"2026-03-01","image":"","kennis":[],"congress":"","summary_en":"A case of the rare TSC2/PKD1 contiguous gene deletion syndrome presenting with hypertension and polycystic kidneys in a 16-year-old, combining features of tuberous sclerosis complex and autosomal dominant polycystic kidney disease.","created":"2026-07-03T10:25:15Z","updated":"2026-07-03T13:24:41Z","licence":"Citeer vrij, met bronvermelding en een link naar hartvaat.nl (de url van het record). Samenvattingen zijn redactioneel werk van HartVaat; de oorspronkelijke publicaties blijven van hun uitgevers (doi). Geen medisch advies.","body_markdown":"Een 16-jarig meisje presenteerde zich met nieuw gediagnosticeerde hypertensie en bilaterale flankpijn. Haar moeder had ADPKD met nierfalen. Beeldvorming toonde polycysteuze nieren, wijzend op het zeldzame TSC2/PKD1 contigue gendeletiesyndroom dat tubereuze sclerose en ADPKD combineert.","abstract_original":"A 16-year-old White female patient presented with newly diagnosed hypertension and intermittent bilateral flank discomfort. Her family history was notable for autosomal dominant polycystic kidney disease in her mother, who progressed to kidney failure at the age of 38 years. On physical examination, the patient’s blood pressure was 150/95 mm Hg, and multiple reddish facial papules, consistent with angiofibromas, were noted. Laboratory studies showed normal kidney function and C-reactive protein level, with no evidence of hematuria."}