继发性肌腺苷酸脱氨酶缺乏不是炎性肌病的常见特征：一项描述性研究。
Secondary myoadenylate deaminase deficiency is not a common feature of inflammatory myopathies: A descriptive study.
作者信息
Wilkinson Michael, Cash Kathy, Gutschmidt Bernice, Otto Sophia, Limaye Vidya
机构信息
Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, Australia.
Department of Rheumatology, Flinders Medical Centre, Adelaide, SA, Australia.
出版信息
Front Med (Lausanne). 2022 Nov 23;9:1061722. doi: 10.3389/fmed.2022.1061722. eCollection 2022.
BACKGROUND
Myoadenylate deaminase (MAD) deficiency is a form of metabolic myopathy, which generally causes only mild symptoms in the primary inherited form. Inflammatory myopathies are a group of autoimmune diseases which result in skeletal muscle weakness. In addition to inflammatory pathology, it has been speculated that non-inflammatory mechanisms, and possibly secondary MAD-deficiency, may potentially contribute to weakness in these conditions.
METHODS
We investigated for an association between these two myopathic processes through two complementary methods. Firstly, muscle biopsy records in South Australia over a 17-year period were retrospectively reviewed for diagnosis of myositis or MAD-deficiency, as well as associated clinical features. Secondly, a prospective arm histochemically tested all incident biopsy specimens over a 12-month period for MAD-deficiency.
RESULTS
In the retrospective arm, 30 MAD-deficient cases were identified (1.3% of all biopsies), with no significant difference observed in overall rates of myositis diagnosis between patients with intact and deficient MAD activity (21.3% vs 26.7%, = 0.47). No cases of MAD-deficiency were detected in the prospective arm, despite 39 cases of myositis being identified over this period.
CONCLUSION
Secondary MAD deficiency is unlikely to be a major driver of symptoms in inflammatory myopathies.
背景
肌腺苷酸脱氨酶（MAD）缺乏是一种代谢性肌病，在原发性遗传形式中通常仅引起轻微症状。炎性肌病是一组导致骨骼肌无力的自身免疫性疾病。除了炎性病理外，据推测非炎性机制以及可能的继发性MAD缺乏可能导致这些情况下的肌无力。
方法
我们通过两种互补方法研究了这两种肌病过程之间的关联。首先，回顾性分析南澳大利亚17年间的肌肉活检记录，以诊断肌炎或MAD缺乏以及相关临床特征。其次，前瞻性研究组在12个月内对所有新发病例的活检标本进行了MAD缺乏的组织化学检测。
结果
在回顾性研究组中，确定了30例MAD缺乏病例（占所有活检的1.3%），MAD活性正常和缺乏的患者之间肌炎诊断的总体发生率无显著差异（21.3%对26.7%，P = 0.47）。在前瞻性研究组中未检测到MAD缺乏病例，尽管在此期间确定了39例肌炎病例。
结论
继发性MAD缺乏不太可能是炎性肌病症状的主要驱动因素。
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