Genetic Clinic, Department of Pediatrics, Seth GS Medical College and KEM Hospital, Parel, Mumbai 400 012, India.
Indian Pediatr. 2012 Apr;49(4):320-2.
Farber disease caused by acid ceramidase deficiency is characterised by a triad of painful and swollen joints, subcutaneous nodules, and laryngeal involvement. A one year old female with overlapping features of the classical and type 5 variants is reported. Sialuria and elevated plasma chitotriosidase were unusual findings. A novel mutation of the ASAH 1 gene was detected from DNA extracted from the umbilical stump.
法伯病由酸性神经酰胺酶缺乏引起，其特征是三联征，即疼痛和肿胀的关节、皮下结节和喉部受累。本文报告了一例一岁女性，具有经典型和 5 型变异型的重叠特征。唾液酸尿和血浆壳三糖苷酶升高是不常见的发现。从脐带残端提取的 DNA 中检测到 ASAH1 基因突变。
