{"id":"fd8c2a2e966f","type":"article","url":"https://hartvaat.nl/2026/03/01/onverklaarde-transplantaatdisfunctie-bij-een-zeldzame-metabole-stoornis/","title":"Onverklaarde transplantaatdisfunctie bij een zeldzame metabole stoornis","title_en":"The Case | Unexplained post-transplant graft dysfunction in a rare metabolic disorder","category":"chronische nierziekte","category_label":"Nierziekte","professions":["internist"],"tags":["harttransplantatie","niertransplantatie"],"journal":"Kidney International","doi":"https://www.kidney-international.org/article/S0085-2538(25)00669-6/fulltext","source_url":"https://doi.org/https://www.kidney-international.org/article/S0085-2538(25)00669-6/fulltext","authors":["George Terinte-Balcan","Juliette Leon","Michael Padden","Aude Servais","Marion Rabant","Dany Anglicheau","Jean Paul Duong Van Huyen","Pierre Isnard"],"significance":4,"published":"2026-03-01","source_date":"2026-03-01","image":"","kennis":["https://hartvaat.nl/kennis/cardiometabool/peripartum-cardiomyopathie/"],"congress":"","summary_en":"A case report of unexplained post-transplant graft dysfunction in a patient with lysinuric protein intolerance, a rare multisystem disorder caused by defective cationic amino acid transport.","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":"Casus van een patiënt met lysinurische proteïne-intolerantie (LPI), een ernstige multisysteemaandoening door een defect in een kationisch aminozuurtransporter. Na niertransplantatie trad onverklaarde graftdisfunctie op, wat diagnostische en therapeutische uitdagingen opleverde.","abstract_original":"We describe the case of a patient diagnosed with lysinuric protein intolerance (LPI) at 2 years of age. LPI is a severe multisystem disorder caused by a defect in a cationic amino acid transporter expressed in the intestinal and kidney tubular epithelium. This defect results in excessive nitric oxide production, notably contributing to immune dysregulation.1 Since diagnosis, the patient has been followed for persistent hyperferritinemia, elevated lactate dehydrogenase levels, hepatosplenomegaly, and recurrent episodes of anemia and thrombocytopenia."}