Pregnancy in a Kidney-Transplanted Woman with Infantile Cystinosis: A Case Report

Abstract Cystinosis is an ultra-rare autosomal recessive lysosomal storage disorder that frequently leads to end-stage kidney disease and necessitates kidney transplantation. Advances in transplantation and cystine-depleting therapy have enabled increasing numbers of affected women to reach reproductive age; however, data on pregnancy outcomes, particularly after transplantation, remain sparse. We report the first documented pregnancy in a Swedish woman with infantile nephropathic cystinosis following kidney transplantation, and infant outcomes through six months of follow up. A 25-year-old kidney transplant recipient with stable graft function and mild proteinuria planned pregnancy and discontinued cysteamine and renin–angiotensin system inhibitors early in gestation. Rising leukocyte cystine levels were observed throughout pregnancy, reflecting increasing intracellular cystine accumulation. Despite close multidisciplinary monitoring, she developed rapidly progressive, early-onset preeclampsia with worsening kidney function, proteinuria, and thrombocytopenia at 26+6 weeks' gestation, necessitating emergency caesarean delivery. A male infant was born at 27 weeks' gestation and required prolonged respiratory support, developing bronchopulmonary dysplasia, but demonstrated reassuring growth, normal neuroimaging, and appropriate neurodevelopment at follow-up. Postpartum, cysteamine therapy was gradually reintroduced, and breastfeeding was initiated shortly after delivery without observed adverse effects. This case highlights the complex clinical balance between metabolic disease control, graft preservation, medication safety, and obstetric risk in pregnant kidney transplant recipients with cystinosis. It underscores the need for coordinated multidisciplinary care and further systematic data to guide management in this patient population.