Goudie Catherine, Alayoubi Abdulfatah M, Tibout Pauline, Duval Michel, Maranda Bruno, Mitchell David, Mitchell John J
Division of Hematology-Oncology, Department of Pediatrics McGill University Health Center Montreal Quebec Canada.
Division of Medical Genetics, Department of Human Genetics McGill University Montreal Quebec Canada.
JIMD Rep. 2019 Mar 14;46(1):46-51. doi: 10.1002/jmd2.12008. eCollection 2019 Mar.
Farber disease (FD) is an inherited autosomal recessive disorder of lipid metabolism. The hallmark of the disease is systemic accumulation of ceramide due to lysosomal acid ceramidase deficiency. The involvement of the central nervous system is critical in this disorder leading to rapid deterioration and death within a few years after birth. Efforts to treat patients by hematopoietic stem cell transplant (HSCT) have resulted in favorable results in the absence of neurological manifestations. We report the outcomes of HSCT in two patients with FD who received early HSCT and had neurological deterioration posttransplant. We also present a new understanding of the limitations of HSCT in FD management based on our observations of the clinical course of the two patients after therapy.
法伯病（FD）是一种遗传性常染色体隐性脂质代谢紊乱疾病。该疾病的标志是由于溶酶体酸性神经酰胺酶缺乏导致神经酰胺在全身蓄积。中枢神经系统受累在这种疾病中至关重要，会导致出生后几年内迅速恶化和死亡。在没有神经学表现的情况下，通过造血干细胞移植（HSCT）治疗患者已取得了良好效果。我们报告了两名FD患者接受早期HSCT并在移植后出现神经功能恶化的HSCT结果。我们还基于对两名患者治疗后临床过程的观察，对HSCT在FD治疗中的局限性提出了新的认识。
