RESUMO
We report the first case of blood chimerism involving a pathogenic RB1 variant in naturally conceived monochorionic-dizygotic twins (MC/DZ) with the twin-twin-transfusion syndrome (TTTS), presumably caused by the exchange of stem-cells. Twin A developed bilateral retinoblastoma at 7 months of age. Initial genetic testing identified a de novo RB1 pathogenic variant, with a 20% allelic ratio in both twins' blood. Subsequent genotyping of blood and skin confirmed dizygosity, with the affected twin harboring the RB1 pathogenic variant in skin and blood, and the unaffected twin carrying the variant only in blood.
Assuntos
Transfusão Feto-Fetal/sangue , Proteína do Retinoblastoma/genética , Retinoblastoma/sangue , Gêmeos Dizigóticos/genética , Quimerismo , Feminino , Transfusão Feto-Fetal/genética , Transfusão Feto-Fetal/patologia , Humanos , Lactente , Gravidez , Gravidez de Gêmeos/sangue , Gravidez de Gêmeos/genética , Retinoblastoma/genética , Retinoblastoma/patologia , Proteína do Retinoblastoma/sangue , Células-Tronco/metabolismo , Células-Tronco/patologia , Gêmeos Monozigóticos/genética , Ultrassonografia Pré-NatalRESUMO
Nirmatrelvir/ritonavir was recently granted emergency use authorization for mild to moderate coronavirus disease 2019. Drug-drug interactions between ritonavir and tacrolimus are underappreciated by nontransplant providers. We describe 2 solid organ transplant recipients prescribed nirmatrelvir/ritonavir for outpatient use who developed tacrolimus toxicity requiring hospitalization and were managed with rifampin for toxicity reversal.