PDF(1424 KB)
PDF(1424 KB)
PDF(1424 KB)
婴儿神经内分泌细胞增生症临床特征分析
Clinical features of neuroendocrine cell hyperplasia of infancy
目的 总结婴儿神经内分泌细胞增生症（NEHI）的临床特点，为制订NEHI患儿的诊断、治疗、预后等病程管理提供依据。方法 回顾性分析2014年1月至2016年3月诊治的7例NEHI患儿的临床资料。结果 7例患儿中，男5例，女2例；2例患儿从新生儿期开始呼吸增快，5例患儿生后1~6个月出现呼吸道症状；6例患儿有肺部爆裂音，4例有低氧血症，3例合并胃食管反流。肺部高分辨率CT（HRCT）显示所有患儿均存在肺中心区磨玻璃样病变，并且至少2个肺叶受累；2例患儿4叶以上肺叶受累；6例患儿有气体潴留。所有患儿在2岁后临床症状好转；1例达到临床和CT缓解；4例临床缓解，但仍有CT改变。结论 NEHI常婴儿期起病，临床表现主要为持续性气促、肺部爆裂音和低氧血症，HRCT常表现为肺中心区磨玻璃样病变并气体潴留。该病无特异性治疗，大部分病例预后良好。
Objective To study the clinical features of neuroendocrine cell hyperplasia of infancy (NEHI) in order to provide a basis for the management of diagnosis, treatment and prognosis of children with NEHI. Methods A retrospective analysis was performed for the clinical data of seven children with NEHI who were diagnosed and treated from January 2014 to March 2016. Results Among the seven children with NEHI, there were five boys and two girls. Two children experienced tachypnea since the neonatal period, and five children developed respiratory tract symptoms within 1-6 months after birth. Of the 7 children, 6 had pulmonary crackles, 4 had hypoxemia, and 3 had gastroesophageal reflux. Lung high-resolution CT (HRCT) showed ground-glass opacities in the central region of the lungs in all children, which involved at least two lung lobes. Of the 7 children, 2 had the involvement of more than 4 lobes and 6 had air trapping. All 7 children had an improvement in clinical symptoms after two years of age. One child achieved clinical and CT remission. Four children achieved clinical remission, but still with CT changes. Conclusions NEHI often occurs in infancy, with the major clinical manifestations of persistent tachypnea, pulmonary crackles, and hypoxemia. The children with NEHI often present ground-glass opacities in the central region of the lungs and air trapping on HRCT. There is no specific treatment for this disease and most cases have a good prognosis.
神经内分泌细胞增生症 / 气促 / 肺磨玻璃样病变 / 婴儿期 / 儿童
Neuroendocrine cell hyperplasia / Tachypnea / Ground-glass opacities of the lung / Infancy / Child
[1] Deterding RR, Pye C, Fan LL, et al. Persistent tachypnea of infancy is associated with neuroendocrine cell hyperplasia[J]. Pediatr Pulmonol, 2005, 40(2):157-165.
[2] Gomes VC, Silva MC, Maia Filho JH, et al. Diagnostic criteria and follow-up in neuroendocrine cell hyperplasia of infancy:a case series[J]. J Bras Pneumol, 2013, 39(5):569-578.
[3] Spagnolo P, Bush A. Interstitial lung disease in children younger than 2 years[J]. Pediatrics, 2016, 137(6). pii:e20152725.
[4] Deutsch GH, Young LR, Deterding RR, et al. Diffuse lung disease in young children:application of a novel classification scheme[J]. Am J Respir Crit Care Med, 2007, 176(11):1120-1128.
[5] Brody AS, Guillerman RP, Hay TC, et al. Neuroendocrine cell hyperplasia of infancy:diagnosis with high-resolution CT[J]. AJR Am J Roentgenol, 2010, 194(1):238-244.
[6] O'Connor MG, Wurth M, Young LR. Rare becomes more common:recognizing neuroendocrine cell hyperplasia of infancy in everyday pulmonary consultations[J]. Ann Am Thorac Soc, 2015, 12(11):1730-1732.
[7] Carr LL, Chung JH, Duarte Achcar R, et al. The clinical course of diffuse idiopathic pulmonary neuroendocrine cell hyperplasia[J]. Chest, 2015, 147(2):415-422.
[8] Young LR, Brody AS, Inge TH, et al. Neuroendocrine cell distribution and frequency distinguish neuroendocrine cell hyperplasia of infancy from other pulmonary disorders[J]. Chest, 2011, 139(5):1060-1071.
[9] Spielberg DR, Brody AS, Baker ML, et al. Ground-glass burden as a biomarker in neuroendocrine cell hyperplasia of infancy[J]. Pediatr Pulmonol, 2019, 54(6):822-827.
[10] Lee J, Sanchez TR, Zhang Y, et al. The role of high-resolution chest CT in the diagnosis of neuroendocrine cell hyperplasia of infancy-a rare form of pediatric interstitial lung disease[J]. Respir Med Case Rep, 2015, 16:101-103.
[11] Brody AS, Guillerman RP, Hay TC, et al. Neuroendocrine cell hyperplasia of infancy:diagnosis with high-resolution CT[J]. AJR Am J Roentgenol, 2010, 194(1):238-244.
[12] Popler J, Wagner BD, Tarro HL, et al. Bronchoalveolar lavage fluid cytokine profiles in neuroendocrine cell hyperplasia of infancy and follicular bronchiolitis[J]. Orphanet J Rare Dis, 2013, 8:175.
[13] Lukkarinen H, Pelkonen A, Lohi J, et al. Neuroendocrine cell hyperplasia of infancy:a prospective follow-up of nine children[J]. Arch Dis Child, 2013, 98(2):141-144.
[14] Berteloot L, Galmiche-Rolland L, Abou-Taam R. Anything that looks like a neuroendocrine cell hyperplasia of infancy is not necessarily a neuroendocrine cell hyperplasia of infancy[J]. Chest, 2016, 149(6):1578-1579.
[15] Bush A, Cunningham S, de Blic J, et al. European protocols for the diagnosis and initial treatment of interstitial lung disease in children[J]. Thorax, 2015, 70(11):1078-1084.
[16] King KA, Torday JS, Sunday ME. Bombesin and[Leu8] phyllolitorin promote fetal mouse lung branching morphogenesis via a receptor-mediated mechanism[J]. Proc Natl Acad Sci U S A, 1995, 92(10):4357-4361.
[17] Popler J, Gower WA, Mogayzel PJ Jr, et al. Familial neuroendocrine cell hyperplasia of infancy[J]. Pediatr Pulmonol, 2010, 45(8):749-755.
[18] Young LR, Deutsch GH, Bokulic RE, et al. A mutation in TTF1/NKX2.1 is associated with familial neuroendocrine cell hyperplasia of infancy[J]. Chest, 2013, 144(4):1199-1206.
[19] Kurland G, Deterding RR, Hagood JS, et al. An official American Thoracic Society clinical practice guideline:classification, evaluation, and management of childhood interstitial lung disease in infancy[J]. Am J Respir Crit Care Med, 2013, 188(3):376-394.
湖南省卫生健康委科研计划课题项目（C2019179）。
