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患病率为二十万分之一的罕见疾病

2017-11-23 熊长明 肺血管病

22岁女性患者,3岁时因感冒就诊发现心脏杂音,诊断为“先天性心脏病”。半年前自觉食欲缺乏,活动后胸闷、气短,诊断为“胃炎,十二指肠淤滞症”,经保守治疗后好转出院。经检查有中度肺动脉高压,是否合并其他疾病?

22岁女性患者,3岁时因感冒就诊发现心脏杂音,诊断为“先天性心脏病”。半年前自觉食欲缺乏,活动后胸闷、气短,诊断为“胃炎,十二指肠淤滞症”,经保守治疗后好转出院。经检查有中度肺动脉高压,是否合并其他疾病?

临床资料】

患者,女,22岁。3岁时因感冒就诊发现心脏杂音,诊断为“先天性心脏病”,具体不详,当时未进一步治疗。半年前自觉食欲缺乏,活动后胸闷、气短,于当地医院检查诊断为“胃炎,十二指肠淤滞症”,经保守治疗后好转出院。患者平时无心悸不适,无头晕、晕厥,无发绀,无四肢抽搐及蹲踞史,智力及生长发育与同龄人无明显差异。

查体:T 36.3℃,P 65次/分,R 16次/分,BP 90/60mmHg。胸骨左缘2~3肋间闻及3/6级连续性机器样杂音,P2亢进,股动脉闻及枪击音。

实验室检查:血常规:WBC 5.52×109/L,N 70.3%,RBC 4.44×1012/L,Hb 140.00g/L。血气分析:pH 7.414,PCO2 45.00mmHg,PO293.2mmHg,SaO2 97.9%,HCO3-27.50mm/L。

心电图:左心室高电压。

X线胸片(图3-1):左侧胸廓塌陷,右肺体积增大、肺血偏多,纵隔、器官向左侧胸廓疝入,主动脉结宽,肺动脉段凸出,左心室增大,心胸比例0.61。


图3-1 胸片示左侧胸廓塌陷,右肺体积增大、肺血偏多,纵隔、器官向左侧胸廓疝入,主动脉结宽,肺动脉段凸出,左心室增大,心胸比0.61

超声心动图:动脉导管未闭﹙动脉水平左向右分流﹚,左侧肺动脉缺如,少量心包积液。

肺动脉CTA:左肺动脉缺如,右侧肺动脉扩张(图3-2a)胸部CT平扫:左肺重度发育不良,右肺代偿性肺气肿(图3-2b)。

呼吸功能测定:中度限制性通气功能障碍,小气道功能减退;肺弥散功能中度障碍;气道阻力偏高,弹性阻力偏大;肺顺应性低于正常。


图3-2 肺动脉CTA示左肺动脉缺如,心脏纵隔向左侧移位,左侧胸廓塌陷(a);肺窗显示左肺未见肺组织,右肺代偿性肺气肿(b) a b

降主动脉造影(图3-3、图3-4)及右心导管检查:吸氧前肺动脉血氧饱和度较右心室高约17%,Qp/Qs=2.63,提示肺动脉水平大量左向右分流;外周血氧饱和度(97.6%)。肺动脉压56/29(41)mmHg,中度肺动脉高压;全肺阻力为355dyn?s/cm5。


图3-3 主动脉造影(RAO 30°)示通过PDA右肺动脉显影,左肺动脉未见显影


图3-4 PDA封堵术后主动脉造影示封堵完全,左肺无肺纹理

临床诊断:先天性心脏病,左侧肺动脉缺如并肺组织发育不良,动脉导管未闭(PDA),中度肺动脉高压。

【讨论】

一侧肺动脉缺如(unilateral absence of a pulmonary artery,UAPA)是一种罕见的疾病,患病率为1/20万,男女发病率大致相同。可以单发,约80%常合并其他心血管异常,如法洛四联症或动脉导管未闭。系胚胎期第6对腮动脉弓未随着肺动脉的发生而萎缩、退化,致使肺动脉于发生后仅与一侧肺相连,导致患侧肺动脉缺如;其病理特点是主肺动脉与肺实质内肺血管之间的连接段单侧缺如,而患侧肺动脉的远端部分和肺内血管常存在,可与支气管、肋间、乳内、膈下、锁骨下动脉,甚至冠状动脉形成侧支吻合,所以患侧肺组织一般都有发育,具有通气功能,但肺动脉血流量的减少会影响肺的正常发育,可导致肺组织不同程度发育不良。UAPA的确切病因尚存争议,并且左、右侧发病率可能存在差异,约2/3的单纯型UAPA发生于右肺。有几种假说来解释病因,主要包括:染色体异常、维生素A缺乏症、宫内感染和环境因素等。

单纯UAPA一般无重要血流动力学异常,少部分病例可伴不同程度肺动脉高压,一般与合并畸形有关,如间隔缺损或动脉导管未闭。

单纯UAPA可长时间无症状而被忽视。常见症状包括:反复肺部感染、咯血、呼吸困难等。伴严重肺发育不良者可有患侧胸廓缩小,呼吸音低,心脏纵隔向患侧移位等。

早期诊断UAPA其重要意义之一在于预防和控制肺动脉高压。胸部X线检查可以作为筛查手段,胸片表现为双侧肺血不对称,患侧胸廓较小、膈肌抬高,对侧肺代偿性肺气肿伴有肺血增多,纵隔向患侧移位,患侧肺门血管缺如或明显减少。如果在肺尖存在广泛侧支血管,则较难与肺结核鉴别。

胸部X线胸片发现可疑征象,可以进一步行肺动脉CT、磁共振成像(MRI),或经胸超声心动图检查进行确诊。CT横断面图像上,缺如的肺动脉通常会终止于根部或从主肺动脉发出后的1cm内。通过肺动脉CT造影或血管磁共振(MRA),还可以观察其他征象,包括侧支血管、肺实质的“马赛克”改变以及继发于反复感染的支气管扩张。经胸超声心动图可用于诊断UAPA,还可以同时检查心脏其他合并畸形,已成为临床心血管疾病的一线检查手段,但由于受肺动脉局部解剖因素的影响,增益不足,透声窗图像受一定限制,探测肺动脉病变尚有一定的限度,本例患者超声心动图即诊断为UAPA,故诊断的准确性还和操作医师的经验有关。核素肺通气-灌注显像对于UAPA诊断通常不是必须的。呼吸功能检查对于鉴别呼吸困难的原因,诊断病变部位,评估肺功能对手术的耐受力或劳动强度耐受力及对危重患者的监护等方面有重要的指导意义。DSA被认为是诊断UAPA的金标准,但是为有创检查,可以作为血管重建手术或其他合并畸形介入治疗前的检查,为临床提供更加详细的形态学和血流动力学方面的资料。

有关UAPA的治疗,尤其是合并其他畸形的治疗尚未达成共识。有些学者建议无症状成年单纯型UAPA患者,可以应用超声心动图进行随访,以监测肺动脉压的发生发展。如果无手术条件,肺动脉高压患者可以应用血管扩张剂进行药物治疗。另外,主要是在儿童人群中,可以尝试进行肺动脉血管重建,亦有成功的血管重建手术报道。目前,治疗其他合并畸形的经验较少,由于UAPA患者合并不同程度的肺功能障碍,所以相对外科手术,介入治疗是比较好的选择,该例患者PDA封堵术成功就是很好的尝试。

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    2017-12-01 wxl882001

    学习一下

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    2017-11-28 wxl882001

    了解一下

    0

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    2017-11-27 大爰

    学习了谢谢分享!!

    0

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    2017-11-25 syscxl
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    2017-11-23 wqkm

    ^_^^_^^_^^_^^_^^_^

    0

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    2017-11-23 有备才能无患

    22岁女性患者.3岁时因感冒就诊发现心脏杂音.诊断为[先天性心脏病".半年前自觉食欲缺乏.活动后胸闷.气短.诊断为[胃炎.十二指肠淤滞症".经保守治疗后好转出院.

    0

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