Medical considerations of long-term survival of Werdnig-Hoffmann disease
Medical considerations of long-term survival of Werdnig-Hoffmann disease
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DOI：
10.1097/phm.0b013e31804b1d66
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发表时间：
2007-05-01
影响因子：
3
通讯作者：
Bach, John R.
中科院分区：
文献类型：
--
作者：
Bach, John R.
目的：报告并发症的非呼吸系统前所未有的生存Werdnig-Hoffman病（脊髓性肌萎缩症1型[SMA 1]）。设计：回顾性图表审查和照顾者问卷调查的103个连续提到SMA 1患者的死亡是防止在infanty.Results：总体而言，15 63（23.8%）的受访者有严重的，有症状的心动过缓。25例男性中有13例双侧隐睾，2例单侧隐睾。42名受访者中有10名（24%）患有复发性口腔念珠菌病，8名（19.0%）患有复发性非口腔念珠菌病。所有患者均发生髋关节脱位/半脱位。他们在1岁时就有脊柱塌陷和脊柱侧凸。96例在24个月之前留置胃造口术/鼻胃管。26例接受胃底折叠术以减少反流。57人接受了改良的元素饮食，并报告了益处。大约一半的人有早期阴毛。3例患者有急性胰腺炎发作，一个未经治疗的患者死于念珠菌性心内膜炎在4个月的年龄，和第二个孩子有二尖瓣念珠菌病的尸检。结论：SMA 1的长期生存的结果在伴随的医疗条件，需要加以解决的发病率高。
Objectives: To report intercurrent nonrespiratory complications of unprecedented survival for Werdnig-Hoffman disease (spinal muscular atrophy type 1 [SMA 1]).Design: A retrospective chart review and caregiver questionnaire for 103 consecutively referred SMA 1 patients for whom death was prevented during infancy.Results: Overall, 15 of 63 (23.8%) respondents had severe, symptomatic bradycardias. Thirteen of 25 males had bilateral cryptorchidism, and two were unilateral. Ten of 42 (24%) respondents had recurrent oral candidiasis, and eight (19.0%) had recurrent nonoral candidiasis. All patients had hip dislocation/subluxation. They had collapsing spines and scoliosis by 1 yr of age. Ninety-six had indwelling gastrostomy/nasogastric tubes before 24 mos of age. Twenty-six underwent fundoplication to decrease reflux. Fifty-seven were on modified elemental diets with reported benefits. About one half had early pubarche. Three patients had episodes of acute pancreatitis, One untreated patient died of candidal endocarditis at 4 mos of age, and a second child had mitral valve candidiasis on autopsy.Conclusion: Prolonged survival of SMA 1 results in a high incidence of concomitant medical conditions that need to be addressed.