Familial Interstitial Disease With 173T Mutation: A Mid- and Long-Term Study
Familial Interstitial Disease With 173T Mutation: A Mid- and Long-Term Study
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DOI：
10.1002/ppul.20970
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发表时间：
2009-02-01
影响因子：
3.1
通讯作者：
de Blic, Jacques
中科院分区：
文献类型：
--
作者：
Abou Taam, Rola;Jaubert, Francis;de Blic, Jacques
目的：描述与173T突变相关的儿童慢性间质性肺疾病的长期病程和治疗。材料和方法：回顾性分析来自一个家庭的临床、放射学和组织学资料，包括5名儿童和2名成人，并对其他患者进行前瞻性分析。结果：患儿出现呼吸道症状的平均年龄为6个月（2 ~ 15个月）。随访14个月~ 15年（平均55个月）。儿童静脉注射大剂量甲基强的松龙脉冲治疗（6-15次，平均12次）。四名患者接受口服强的松龙（平均16个月）和羟氯喹治疗，其中一名患者服用额外的霉酚酸酯。一名在婴儿期有轻微呼吸道症状的成年人和另一名无症状的成年人也被诊断出来。他们都没有接受任何治疗。所有患儿均行BAL液检测：所有患儿均为pro-SPC和SPB阳性。2例患儿在7个月时分别行肺活检，表现为间质性肺炎伴腔内巨噬细胞和II型肺泡细胞增生，33个月时表现为胸膜下微泡、间质性肺炎区和II型肺泡细胞增生。免疫组化显示II型细胞核SPB和TTF1染色增加，前spc和ABCA3染色微弱。在其他病例中，基因诊断避免了活检的需要。3 ~ 14个月（平均9个月）临床状况逐渐改善，可停止补氧。CT扫描最初显示磨玻璃混浊，然后磨玻璃模式的减少与临床改善和囊肿的发展有关。结论：该家族显示了呼吸受累和预后的变异性。这证实了表面活性剂蛋白基因突变的基因筛选的价值。儿科肺科杂志2009；44:167 - 175。(c) 2009 Wiley-Liss, Inc。
Objectives: To describe the long-term course and the management in children of chronic interstitial lung disease associated with 173T mutation. Materials and Methods: Clinical, radiological, and histological data from one family including five children and two adults were analyzed retrospectively for three patients and prospectively for the others. Results: Mean age of onset of respiratory symptoms for children was 6 months (2-15 months). The follow up was 14 months to 15 years (mean 55 months). The children were treated by intravenous high dose methylprednisolone pulses (6-15, mean 12). Four received oral prednisolone (mean 16 months) and hydroxychloroquine, one of these had additional mycophenolate mofetil. One adult with mild respiratory symptoms in infancy and another who was symptom free were also diagnosed. Both of them received no treatment. BAL fluids were obtained in all children: pro-SPC and SPB were positive in all. Lung biopsies were performed in two children respectively at 7 months, showing interstitial pneumonia features with endoluminal macrophage and type II alveolar cells hyperplasia, and at 33 months, showing subpleural microbullae, areas of interstitial pneumonia and type II alveolar cells hyperplasia. Immunohistochemistry showed for both an increased SPB and TTF1 staining in type II cells nuclei and a faint staining for pro-SPC and for ABCA3. Genetic diagnosis obviated the need for biopsy in other cases. The clinical status progressively improved and oxygen supplementation could be stopped after 3-14 months (mean 9 months). The CT scans initially showed ground glass opacities, then reduction in the ground glass pattern associated with clinical improvement and development of cysts. Conclusion: This kindred illustrates the variability of respiratory involvement and prognosis. It confirms the value of genetic screening for surfactant protein genes mutations. Pediatr Pulmonol. 2009; 44:167-175. (c) 2009 Wiley-Liss, Inc.