Bal Serpil, Kocyigit Hikmet, Turan Yasemin, Gurgan Alev, Bayram Korhan Baris, Güvenc Anil, Kocaaga Zehra, Dirim Berna
Department of Physical Medicine and Rehabilitation, Ataturk Research and Training Hospital, Izmir, Turkey.
Rheumatol Int. 2009 Apr;29(6):699-702. doi: 10.1007/s00296-008-0746-x. Epub 2008 Oct 19.
Spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is an autosomal recessively inherited skeletal dysplasia. We present four patients (three patients-a brother and a sister and their third cousin-in a family and one patient in another family) with SEDT-PA. All patients had short stature and stubby hands and feet. Their radiographs revealed typical changes for SEDT-PA including platyspondyly, severe osteopenia and dysplastic bone changes. Physical therapy and exercises were performed to all patients in order to decrease in pain and increase or at least maintain joint motion and mobility. Symptomatic relief was achieved in all patients for about a couple of months. The major clinical importance of this rather rare disorder is its similarity to juvenile idiopathic arthritis which has rather different treatment protocol.
迟发性脊椎骨骺发育不良伴进行性关节病（SEDT-PA）是一种常染色体隐性遗传的骨骼发育不良疾病。我们报告了4例SEDT-PA患者（一个家庭中的3例——1名兄弟、1名姐妹及其第三代堂亲，以及另一个家庭中的1例）。所有患者均身材矮小，手脚粗短。他们的X线片显示出SEDT-PA的典型变化，包括椎体扁平、严重骨质减少和发育异常的骨骼改变。对所有患者都进行了物理治疗和锻炼，以减轻疼痛并增加或至少维持关节活动度。所有患者均在大约几个月内实现了症状缓解。这种相当罕见的疾病的主要临床重要性在于它与幼年特发性关节炎相似，但治疗方案却大不相同。
