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Abstract：
Multicentric osteolysis, nodulosis, and arthropathy (MONA) syndrome is one of the rare genetic skeletal dysplasias, inherited as an autosomal recessive disorder, which predominantly involves carpal and tarsal bones with characteristic osteolytic lesions and can be misdiagnosed as juvenile idiopathic arthritis or rheumatoid arthritis. MONA syndrome includes diseases involving two genes: the matrix metalloproteinase 2 (MMP2) gene and matrix metalloproteinase 14 (MMP14). Both genes are assumed to cause phenotype variants of the same disease. Older patients may manifest some arthritic features, especially in the wrist, and minute pathological fractures can occur as well. These patients may be misdiagnosed as inflammatory arthritis and physicians might prescribe corticosteroid and disease-modifying immunosuppressive agents. Therefore, physicians should carefully evaluate genetic skeletal dysplasia to make a correct diagnosis and avoid unnecessary pharmacological intervention. We report a case of MONA syndrome in an adult female who came to our facility for an intensive rehabilitation program.
摘要：
多中心骨溶解,结节病,关节病（MONA）综合征是罕见的遗传性骨骼发育不良之一，作为常染色体隐性遗传疾病，主要累及腕骨和tar骨，具有特征性溶骨性病变，可误诊为幼年特发性关节炎或类风湿关节炎。MONA综合征包括涉及两个基因的疾病：基质金属蛋白酶2（MMP2）基因和基质金属蛋白酶14（MMP14）。假定这两种基因都引起相同疾病的表型变异。老年患者可能表现出一些关节炎特征，尤其是手腕,和微小的病理性骨折也可能发生。这些患者可能被误诊为炎性关节炎，医生可能会开出皮质类固醇和改善疾病的免疫抑制剂。因此,医生应仔细评估遗传性骨骼发育不良，以做出正确的诊断，并避免不必要的药物干预。我们报告了一名成年女性的MONA综合征病例，该女性来到我们的设施进行强化康复计划。
