FAMILIAL GRANULOMATOUS SYNOVITIS, UVEITIS, AND CRANIAL NEUROPATHIES
FAMILIAL GRANULOMATOUS SYNOVITIS, UVEITIS, AND CRANIAL NEUROPATHIES
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DOI：
10.1016/0002-9343(85)90286-4
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发表时间：
1985-01-01
影响因子：
5.9
通讯作者：
ARNETT, FC
中科院分区：
文献类型：
--
作者：
JABS, DA;HOUK, JL;ARNETT, FC
一个家庭患有被认为是以前未描述过的肉芽肿性滑膜炎、双侧复发性葡萄膜炎和颅神经病综合征。受影响的成员包括先证者、他的兄弟、父亲，可能还有已故的祖母。疾病发病于儿童时期。每个人的手和手腕都患有对称的沼泽性多滑膜炎，导致几乎相同的胸花畸形。先证者及其兄弟的手部 X 光检查显示，尽管患病 20 多年，但没有糜烂或关节破坏。先证者及其兄弟的滑膜切除标本显示有巨细胞肉芽肿性炎症。先证者、兄弟和父亲患有复发性非肉芽肿性急性虹膜睫状体炎并伴有视力障碍。先证者明显出现皮质类固醇反应性双侧感觉神经性听力损失，其兄弟出现短暂性第六脑神经麻痹。该家族所有成员的抗核抗体、类风湿因子和 HLA-B27 均为阴性。所有家庭成员的血清血管紧张素转换酶水平均在正常范围内。该综合征的遗传模式与常染色体显性遗传模式最为一致。
A family is presented that had what is believed to be a previously undescribed syndrome of granulomatous synovitis, bilateral recurrent uveitis, and cranial neuropathies. Affected members included the proband, his brother, father and probably the deceased paternal grandmother. Disease onset was in childhood. Each had symmetric, boggy polysynovitis of the hands and wrists, resulting in nearly identical boutonniere deformities. Hand radiography in the proband and his brother revealed no erosions or joint destruction despite more than 20 yr of disease. Synovectomy specimens in the proband and his brother showed granulomatous inflammation with giant cells. Recurrent, nongranulomatous, acute iridocyclitis with visual impairment afflicted the proband, brother and father. Apparently corticosteroid-responsive bilateral neurosensory hearing loss occurred in the proband, and a transient 6th cranial nerve palsy in his brother. All members of the family were antinuclear antibody-, rheumatoid factor- and HLA-B27-negative. Serum angiotensin-converting enzyme levels were within normal limits in all family members. The inheritance pattern of this syndrome is most consistent with an autosomal dominant mode.