Pulmonary disease is a component of distal arthrogryposis type 5
Pulmonary disease is a component of distal arthrogryposis type 5
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DOI：
10.1002/ajmg.a.31648
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发表时间：
2007-04-01
影响因子：
2
通讯作者：
Bamshad, Michael J.
中科院分区：
文献类型：
--
作者：
Williams, Marc S.;Elliott, C. Gregory;Bamshad, Michael J.
我们报告一个三代家庭远端关节弯曲5型（DA 5）。该家系三代有4名成员，均为常染色体显性遗传。对三名受影响的人进行了检查。所有患者均存在远端关节挛缩伴屈曲折痕缺失、所有大小关节活动受限、异常站立伴足跟索和弓足缩短、肌肉结实、身材矮小、眼外运动减少和漏斗胸。先证者患有肺动脉高压，继发于限制性胸部疾病引起的慢性缺氧、肺泡通气不足以及居住在海拔7,000英尺的地方。心导管检查记录肺动脉压为54 mmHg，肺毛细血管楔压为10 mmHg。肺功能检查显示严重的胸部限制（用力肺活量为预测值的30%;总肺活量为预测值的51%;最大吸气压和呼气压降低。动脉血气证实肺泡通气不足。限制性胸部疾病是DA 5的一个组成部分。这意味着骨骼肌和/或呼吸肌的参与。所有诊断为DA 5的个体都应评估胸部疾病、肺泡通气不足，因为慢性缺氧的治疗可能会延迟或逆转肺动脉高压。(c)2007 Wiley-Liss，Inc.
We report on a three-generation family with distal arthrogryposis type 5 (DA5). The family has four affected(l members in three generations with,in apparent autosomal dominant pattern of inheritance. Three affected individuals were examined. All have distal joint contractures with absent flexion creases, limited mobility of all small and large joints, unusual stance with shortened heel cords and pes cavus, firm muscles, short stature, decreased extraocular movements, and pectus excavatum. The propositus has pulmonary hypertension secondary to chronic hypoxia from restrictive chest disease, alveolar hypoventilation, and residence at 7,000 feet above sea level. Cardiac catheterization documented pulmonary artery pressure of 54 mmHg and a pulmonary capillary wedge pressure of 10 mmHg. Pulmonary function tests showed severe chest restriction (forced vital capacity 30% Of predicted; total king capacity 51% predicted; and reduction of maximal inspiratory and expiratory pressures. Arterial blood gases documented alveolar hypoventilation. Restrictive chest disease is a component of DA5. This implies involvement of the skeletal, and/or respiratory muscles. All individuals diagnosed with DA5 should he evaluated for chest disease, alveolar hypoventilation, as treatment of chronic hypoxia may delay or reverse pulmonary hypertension. (c) 2007 Wiley-Liss, Inc.