Division of Pediatric Rheumatology, Children's National Health System, Washington, DC, USA.
Division of Blood and Marrow Transplantation, Children's National Health System, Washington, DC, USA.
Pediatr Transplant. 2020 Feb;24(1):e13604. doi: 10.1111/petr.13604. Epub 2019 Oct 25.
MA is a rare, autosomal recessive disorder characterized by episodes of inflammation and periodic fevers. In its most severe form, it can result in facial dysmorphism, growth inhibition, ataxia, liver dysfunction, intellectual disability, and at times can be fatal. A number of case reports exist stating that SCT is curative in these patients. We present the case of a patient diagnosed with MA at birth, who underwent SCT at the age of 14 months with intent to cure. She achieved complete engraftment and urine mevalonate became undetectable. However, 18 months following transplant, she developed frequent episodes of fevers, rashes, arthritis, and a rising urinary mevalonate. She was subsequently diagnosed with relapse. She now requires treatment with steroids and canakinumab to manage her disease. This case is the first report of disease relapse following transplant for MA. It runs contrary to prior reports that SCT is fully curative of MA and suggests that transplant may instead provide a means of decreasing disease severity without entirely eradicating the condition.
黏多糖贮积症 MA 是一种罕见的常染色体隐性遗传病，其特征是炎症发作和周期性发热。在最严重的情况下，它会导致面部畸形、生长抑制、共济失调、肝功能障碍、智力障碍，有时甚至可能致命。有许多病例报告表明，SCT 对这些患者具有治愈作用。我们报告了一例出生时被诊断为 MA 的患者，她在 14 个月大时接受了 SCT，旨在治愈。她实现了完全嵌合，尿液甲羟戊酸检测不到。然而，移植后 18 个月，她开始频繁出现发热、皮疹、关节炎和尿液甲羟戊酸升高。随后她被诊断为复发。她现在需要使用类固醇和卡那单抗来治疗疾病。这是首例报道的 MA 移植后疾病复发的病例。这与之前 SCT 可完全治愈 MA 的报告相悖，表明移植可能只是一种降低疾病严重程度而不完全消除疾病的手段。
