新生儿先天性肺泡蛋白沉积症1例

韩俊彦; 张蓉; 周建国; 胡黎园; 钱莉玲; 陆爱珍; 杨琳; 马阳阳; 乔中伟; 张澜

doi:10.7499/j.issn.1008-8830.2307035

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中国当代儿科杂志 ›› 2023, Vol. 25 ›› Issue (10) : 1089-1094. DOI: 10.7499/j.issn.1008-8830.2307035

多学科诊疗专栏

新生儿先天性肺泡蛋白沉积症1例

韩俊彦¹, 张蓉¹, 周建国¹, 胡黎园¹, 钱莉玲², 陆爱珍², 杨琳³, 马阳阳⁴, 乔中伟⁵, 张澜¹

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Congenital pulmonary alveolar proteinosis in a neonate

HAN Jun-Yan, ZHANG Rong, ZHOU Jian-Guo, HU Li-Yuan, QIAN Li-Ling, LU Ai-Zhen, YANG Lin, MA Yang-Yang, QIAO Zhong-Wei, ZHANG Lan

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摘要

患儿，男，44日龄，因生后呼吸困难、不能离氧1月余入院。既往有一哥哥，生后3 d因呼吸衰竭夭折。患儿主要表现为生后不久出现呼吸衰竭、呼吸困难、低氧血症。胸部CT表现为双肺透亮度明显减低，呈“铺路石征”；支气管肺泡灌洗液病理检查免疫组化呈现过碘酸希夫染色阳性；基因检测结果提示ABCA3基因复合杂合突变。该患儿诊断为先天性肺泡蛋白沉积症。先天性肺泡蛋白沉积症是导致足月儿难以治疗的呼吸衰竭的重要原因，因此对生后较早起病的难治性呼吸困难需考虑该疾病可能，尽早行胸部CT检查、支气管肺泡灌洗液病理学检查及基因检测，有助于早期诊断及指导临床决策。

Abstract

The male patient was referred to the hospital at 44 days old due to dyspnea after birth and inability to wean off oxygen. His brother died three days after birth due to respiratory failure. The main symptoms observed were respiratory failure, dyspnea, and hypoxemia. A chest CT scan revealed characteristic reduced opacity in both lungs with a "crazy-paving" appearance. The bronchoalveolar lavage fluid (BALF) showed periodic acid-Schiff positive proteinaceous deposits. Genetic testing indicated a compound heterozygous mutation in the ABCA3 gene. The diagnosis for the infant was congenital pulmonary alveolar proteinosis (PAP). Congenital PAP is a significant cause of challenging-to-treat respiratory failure in full-term infants. Therefore, congenital PAP should be considered in infants experiencing persistently difficult-to-treat dyspnea shortly after birth. Early utilization of chest CT scans, BALF pathological examination, and genetic testing may aid in early diagnosis.

导出引用

韩俊彦, 张蓉, 周建国, 胡黎园, 钱莉玲, 陆爱珍, 杨琳, 马阳阳, 乔中伟, 张澜. 新生儿先天性肺泡蛋白沉积症1例[J]. 中国当代儿科杂志. 2023, 25(10): 1089-1094 https://doi.org/10.7499/j.issn.1008-8830.2307035

HAN Jun-Yan, ZHANG Rong, ZHOU Jian-Guo, HU Li-Yuan, QIAN Li-Ling, LU Ai-Zhen, YANG Lin, MA Yang-Yang, QIAO Zhong-Wei, ZHANG Lan. Congenital pulmonary alveolar proteinosis in a neonate[J]. Chinese Journal of Contemporary Pediatrics. 2023, 25(10): 1089-1094 https://doi.org/10.7499/j.issn.1008-8830.2307035

参考文献

1 Chuang CH, Cheng CH, Tsai YC, et al. Pulmonary alveolar proteinosis in Taiwan[J]. J Formos Med Assoc, 2023. Epub ahead of print. PMID: 37105870. DOI: 10.1016/j.jfma.2023.04.002.
2 McCarthy C, Avetisyan R, Carey BC, et al. Prevalence and healthcare burden of pulmonary alveolar proteinosis[J]. Orphanet J Rare Dis, 2018, 13(1): 129. PMID: 30064481. PMCID: PMC6069872. DOI: 10.1186/s13023-018-0846-y.
3 Rosen SH, Castleman B, Liebow AA. Pulmonary alveolar proteinosis[J]. N Engl J Med, 1958, 258(23): 1123-1142. PMID: 13552931. DOI: 10.1056/NEJM195806052582301.
4 Jouneau S, Ménard C, Lederlin M. Pulmonary alveolar proteinosis[J]. Respirology, 2020, 25(8): 816-826. PMID: 32363736. DOI: 10.1111/resp.13831.
5 Kelly A, McCarthy C. Pulmonary alveolar proteinosis syndrome[J]. Semin Respir Crit Care Med, 2020, 41(2): 288-298. PMID: 32279299. DOI: 10.1055/s-0039-3402727.
6 Salvaterra E, Campo I. Pulmonary alveolar proteinosis: from classification to therapy[J]. Breathe (Sheff), 2020, 16(2): 200018. PMID: 32684997. PMCID: PMC7341616. DOI: 10.1183/20734735.0018-2020.
7 张东伟, 卢根. 先天性肺泡蛋白沉积症[J]. 中国实用儿科杂志, 2023, 38(3): 199-204. DOI: 10.19538/j.ek2023030608.
8 Ehab A, Braga RI. The clinical significance of a 'crazy-paving' pattern on chest radiology[J]. Eur J Case Rep Intern Med, 2018, 5(12): 000978. PMID: 30755996. PMCID: PMC6346976. DOI: 10.12890/2018_000978.
9 Holbert JM, Costello P, Li W, et al. CT features of pulmonary alveolar proteinosis[J]. AJR Am J Roentgenol, 2001, 176(5): 1287-1294. PMID: 11312196. DOI: 10.2214/ajr.176.5.1761287.
10 Jehn LB, Bonella F. Pulmonary alveolar proteinosis: current and future therapeutical strategies[J]. Curr Opin Pulm Med, 2023, 29(5): 465-474. PMID: 37395514. DOI: 10.1097/MCP.0000000000000982.
11 Huang X, Cao M, Xiao Y. Alveolar macrophages in pulmonary alveolar proteinosis: origin, function, and therapeutic strategies[J]. Front Immunol, 2023, 14: 1195988. PMID: 37388737. PMCID: PMC10303123. DOI: 10.3389/fimmu.2023.1195988.
12 Cho K, Nakata K, Ariga T, et al. Successful treatment of congenital pulmonary alveolar proteinosis with intravenous immunoglobulin G administration[J]. Respirology, 2006, 11 (Suppl): S74-S77. PMID: 16423278. DOI: 10.1111/j.1440-1843.2006.00814.x.
13 Rossi SE, Erasmus JJ, Volpacchio M, et al. "Crazy-paving" pattern at thin-section CT of the lungs: radiologic-pathologic overview[J]. Radiographics, 2003, 23(6): 1509-1519. PMID: 14615561. DOI: 10.1148/rg.236035101.
14 刘瑛, 万钰磊. 肺泡蛋白沉积症影像学特征及误诊分析[J]. 临床误诊误治, 2022, 35(1): 1-5. DOI: 10.3969/j.issn.1002-3429.2022.01.001.
15 Frazier AA, Franks TJ, Cooke EO, et al. From the archives of the AFIP: pulmonary alveolar proteinosis[J]. Radiographics, 2008, 28(3): 883-899. PMID: 18480490. DOI: 10.1148/rg.283075219.
16 Ishii H, Trapnell BC, Tazawa R, et al. Comparative study of high-resolution CT findings between autoimmune and secondary pulmonary alveolar proteinosis[J]. Chest, 2009, 136(5): 1348-1355. PMID: 19892674. DOI: 10.1378/chest.09-0097.
17 Kadota N, Nakahira N, Miyauchi M, et al. Usefulness of bronchoalveolar lavage (BAL) in the diagnosis of pulmonary alveolar proteinosis[J]. QJM, 2022, 115(11): 767-768. PMID: 35809073. DOI: 10.1093/qjmed/hcac168.
18 Hadchouel A, Drummond D, Abou Taam R, et al. Alveolar proteinosis of genetic origins[J]. Eur Respir Rev, 2020, 29(158): 190187. PMID: 33115790. PMCID: PMC9648510. DOI: 10.1183/16000617.0187-2019.
19 Yin X, Zhao D, Tian Z, et al. Generation of an induced pluripotent stem cell line from a patient with surfactant metabolism dysfunction carrying ABCA3 mutations[J]. Stem Cell Res, 2021, 53: 102286. PMID: 33839547. DOI: 10.1016/j.scr.2021.102286.
20 Bullard JE, Wert SE, Whitsett JA, et al. ABCA3 mutations associated with pediatric interstitial lung disease[J]. Am J Respir Crit Care Med, 2005, 172(8): 1026-1031. PMID: 15976379. PMCID: PMC1403838. DOI: 10.1164/rccm.200503-504OC.
21 Doan ML, Guillerman RP, Dishop MK, et al. Clinical, radiological and pathological features of ABCA3 mutations in children[J]. Thorax, 2008, 63(4): 366-373. PMID: 18024538. DOI: 10.1136/thx.2007.083766.
22 刘永宁. 单基因遗传病的防控与治疗分析[J]. 中国现代药物应用, 2014, 8(4): 234-235. DOI: 10.14164/j.cnki.cn11-5581/r.2014.04.113.
23 Trapnell BC, Nakata K, Bonella F, et al. Pulmonary alveolar proteinosis[J]. Nat Rev Dis Primers, 2019, 5(1): 16. PMID: 30846703. DOI: 10.1038/s41572-019-0066-3.
24 Rogulska J, Wróblewska-Seniuk K, ?migiel R, et al. Diagnostic challenges in neonatal respiratory distress: congenital surfactant metabolism dysfunction caused by ABCA3 mutation[J]. Diagnostics (Basel), 2022, 12(5): 1084. PMID: 35626240. PMCID: PMC9140114. DOI: 10.3390/diagnostics12051084.
25 Bertolizio G, Engelhardt T, Veyckemans F. Congenital interstitial lung diseases: what the anesthesiologist needs to know[J]. Paediatr Anaesth, 2022, 32(2): 138-147. PMID: 34738691. DOI: 10.1111/pan.14325.