Liver-transplantation-corrected coagulation dysfunction and neurological impairment in patients with argininemia

Abstract

Background Argininemia is a rare disease caused by inborn errors of metabolism. Advances in diagnosis and treatment have increased the number of patients receiving effective management. Argininemia is characterized by progressive spastic paraplegia, mental retardation, failure to thrive and irritability, and patients with coagulopathy are paid more attention. We studied the changes in coagulation dysfunctions and neurodevelopment in patients with argininemia before and after liver transplantation(LT). Methods The data in this study were obtained from the Liver Transplantation Center of Beijing Friendship Hospital, Capital Medical University between January 2015 and November 2019. We identified data related to argininemia in all patients diagnosed with urea cycle disorder, and extracted the details on coagulation, liver function, neurodevelopmental outcomes, histopathological and morphological examination, and other clinical presentations. The patients were followed up by telephone and/or in the clinic. Results Nine patients with argininemia diagnosed by tandem mass spectrometry and symptoms, and confirmed by gene sequencing. The symptoms deteriorated after dietary restriction in all patients with argininemia. Coagulopathy manifested before surgery, and no significant correlation was detected with plasma ammonia concentration. The coagulation dysfunction was completely resolved and progressive neurological impairment was prevented in seven patients with LT. Conclusions Coagulation dysfunctions are common manifestations of patients with