Onverklaarde transplantaatdisfunctie bij een zeldzame metabole stoornis

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.