先天性中枢性低通气综合征发病机制研究现状及干预治疗

doi:10.11852/zgetbjzz2021-0342

中国儿童保健杂志 ›› 2022, Vol. 30 ›› Issue (6): 642-645.DOI: 10.11852/zgetbjzz2021-0342

先天性中枢性低通气综合征发病机制研究现状及干预治疗

余沙^1,2, 肖曙芳³, 杨美芬²

1.大理大学临床医学院,云南大理 671000;
2.楚雄州人民医院新生儿科,云南楚雄 675000;
3.昆明市儿童医院重症医学科

收稿日期:2021-03-05 修回日期:2021-06-08 发布日期:2022-06-28 出版日期:2022-06-10
通讯作者: 肖曙芳,E-mailxiaosf62@126.com
作者简介:余沙(1990-),女,云南人,在读硕士研究生,主要研究方向为新生儿疾病。

Research status of pathogenesis of congenital central hypoventilation syndrome and intervention

YU Sha^*, XIAO Shu-fang, YANG Mei-fen

^*School of Clinical Medicine, Dali University, Dalian, Yunnan 671000,China; Department of Neonatology, Chuxiong people's Hospital, Chuxiong, Yunnan 675000, China

Received:2021-03-05 Revised:2021-06-08 Online:2022-06-10 Published:2022-06-28
Contact: XIAO Shu-fang,E-mail:xiaosf62@126.com

摘要/Abstract

摘要： 先天性中枢性低通气综合征(CCHS)是一种罕见的终身性遗传性疾病。目前研究表明,CCHS存在脑功能缺陷、化学感受性呼吸控制障碍与类似配对同源基因(PHOX2B)突变有关。通过对国内外70余例病例报道进行研究与分析,现对CCHS发病机制当前研究现状及干预治疗做一综述,阐述PHOX2B基因突变的谱系,以及PHOX2B基因突变与脑功能缺陷、化学感受性呼吸控制障碍及合并症之间的关系。提高临床及早有效地诊治该病的能力。

关键词: 先天性中枢低通气综合征, 化学感受性呼吸控制障碍, 类似配对同源基因

Abstract: Congenital central hypoventilation syndrome (CCHS) is a rare hereditary disease for life. At present, the research shows that the brain function defect and the chemical sensitive respiratory control disorder of CCHS are related to the mutation of paired-like hemeobox gene 2B (PHOX2B). By reviewing case report of 70 cases of CCHS at home and abroad, this article reviews current research status of CCHS pathogenesis and intervention treatment, expounding the pedigree of PHOX2B gene mutation, and the relationship between PHOX2B gene mutation and brain function defect, chemosensory respiratory control disorder and complications, so as to provide reference for timely and effective diagnosis and treatment of the disease.

Key words: congenital central hypoventilation syndrome, chemosensory respiratory control disorder, paired-like hemeobox gene 2B

中图分类号:

R725.9

余沙, 肖曙芳, 杨美芬. 先天性中枢性低通气综合征发病机制研究现状及干预治疗[J]. 中国儿童保健杂志, 2022, 30(6): 642-645.

YU Sha, XIAO Shu-fang, YANG Mei-fen. Research status of pathogenesis of congenital central hypoventilation syndrome and intervention[J]. Chinese Journal of Child Health Care, 2022, 30(6): 642-645.

参考文献

[1] 单光颂,王本臻, 李晶, 等. 以肺动脉高压为首发症状的先天性中枢性低通气综合征一例[J]. 亚洲儿科病例研究, 2019, 7(1):1-6.
[2] 甄珍,袁越,高路,等.以"心脏扩大"为首诊的先天性中枢性低通气综合征一例[J].中国小儿急救医学,2020,27(12):957-958.
[3] 李晓莺,郎玉洁,刘晨,等.先天性中枢性低通气综合征四例[J].中华新生儿科杂志,2018,33(4):262-265.
[4] Weese-Mayer DE, Rand CM, Berry-Kravis EM, et al. Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine[J]. Pediatr Pulmonol, 2009, 44(6):521-535.
[5] Paglietti MG,Cherchi C,Porcaro F,et al. Two novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung disease[J].Ital J Pediatr,2019,45(1):49-52.
[6] Kasi AS, Jurgensen TJ, Yen S, et al. Three-generation family with congenital central hypoventilation syndrome and novel PHOX2B gene non-polyalanine repeat mutation [J].J Clin Sleep Med,2017,13(7):925-927.
[7] Cain JT, Kim DI, Quas M, et al.Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome[J].Am J Med Genet A, 2017,173(5):1200-1207.
[8] 张漪,彭斯聪,付佳敏,等.先天性中枢性低通气综合征五例[J].中华新生儿科杂志,2020,35(3):207-210.
[9] Nobuta H,Cilio MR, Danhaive O, et al.Dysregulation of locus coeruleus development in congenital central hypoventilation syndrome[J].Acta Neuropathol,2015,130(2):171-183.
[10] Schirwani S, Pysden K, Chetcuti P, et al. Carbamazepine improves apneic episodes in Congenital Central Hypoventilation Syndrome (CCHS) with a novel PHOX2B exon 1 missense mutation[J].J Clin Sleep Med,2017,13(11):1359-1362.
[11] Souza RT,Campanharo FF, Araujo Júnior E, et al.Challenges in congenital central hypoventilation syndrome (Ondine's curse) on pregnancy:A case report[J].J Obstet Gynaecol,2017,37(1):107-108.
[12] Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, et al. An official ATS clinical policy statement:Congenital central hypoventilation syndrome: genetic basis, diagnosis,and management[J].Am J Respir Crit Care Med, 2010,181(6):626-644.
[13] MarionTL,Bradshaw WT.Congenital central hypoventilation syndrome and the PHOX2B gene mutation[J].Neonatal Netw,2011,30(6):397-401.
[14] Szymońska I, Borgenvik TL,Karlsvik TM, et al. Novel mutationdeletion in the PHOX2B gene of the patient diagnosed with Neuroblastoma, Hirschsprung's Disease, and Congenital Central Hypoventilation Syndrome (NB-HSCR-CCHS) Cluster[J] .J Genet Syndr Gene Ther, 2015, 6(3):269-285.
[15] Kasi AS, Kun SS, Keens TG,et al.Adult with PHOX2B mutation and late-onset congenital central hypoventilation syndrome[J].J Clin Sleep Med,2018,14(12):2079-2081.
[16] Lombardo RC, Kramer E,Cnota JF, et al. Variable phenotype in a novel mutation in PHOX2B[J]. Am J Med Genet A,2017,173(6):1705-1709.
[17] Katwa U, D'Gama AM, Qualls AE, et al. Atypical presentations associated with non-polyalanine repeat PHOX2B mutations[J].Am J Med Genet A,2018, 176(7):1627-1631.
[18] Byers HM, Chen M, Gelfand AS, et al. Expanding the phenotype of congenital central hypoventilation syndrome impacts management decisions[J]. Am J Med Genet A, 2018, 176(6):1398-1404.
[19] 许志飞. 先天性中枢性低通气综合征的诊断与治疗进展[J]. 中华实用儿科临床杂志, 2018, 33(4):273-276.
[20] Weese-Mayer DE, Rand CM, Zhou A, et al. Congenital central hypoventilation syndrome: a bedside-to-bench success story for advancing early diagnosis and treatment and improved survival and quality of life[J]. Pediatr Res, 2017,81(1-2):192-201.
[21] Patwari PP, Carroll MS, Rand CM, et al. Congenital central hypoventilation syndrome and the PHOX2B gene: a model of respiratory and autonomic dysregulation[J]. Respir Physiol Neurobiol, 2010, 173(3):322-335.
[22] Tomycz ND, Haynes RL, Schmidt EF, et al. Novel neuropathologic findings in the Haddad syndrome[J]. Acta Neuropathol, 2010, 119(2):261-269.
[23] Esteso Orduña B, Seijas Gómez R, García Esparza E,et al.Neuropsychological profile and social cognition in congenital central hypoventilation syndrome (CCHS):Correlation with neuroimaging in a clinical case[J]. J Clin Exp Neuropsychol, 2018, 40(1):75-83.
[24] Kumar R, Woo MS,Macey PM, et al. Progressive gray matter changes in patients with congenital central hypoventilation syndrome[J]. Pediatr Res, 2012, 71(6):701-706.
[25] Khan A,Sarnat HB, Spaetgens R. Congenital muscle fiber-type disproportion in a patient with congenital central hypoventilation syndrome due to PHOX2B mutations[J].J Child Neurol, 2008, 23(7):829-831.
[26] Gourine AV, Kasymov V, Marina N, et al. Astrocytes control breathing through pH-dependent release of ATP[J]. Science, 2010, 329(5991):571-575.
[27] Fu C,Xue R,Wang R,et al.Chemosensitive PHOX2B-expressing neurons are crucial for hypercapnic ventilatory response in the nucleus tractus solitaries[J].J Physiol,2017,595(14):4973-4989.
[28] Patrone LG, Taxini CL, Biancardi V, et al. Neurochemical and electrical modulation of the locus coeruleus: contribution to CO₂ drive to breathe[J]. Front Physiol, 2014, 5(288):1-13.
[29] DiLascio S, Benfante R, Di Zanni E, et al. Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome[J].Hum Mutat, 2018,39(2):219-236.
[30] Ye G,Han D, WangZ,et al. A novel c.676_677insG PHOX2B mutation in congenital central hypoventilation syndrome[J].J Clin Sleep Med, 2019,15(3):509-513.

先天性中枢性低通气综合征发病机制研究现状及干预治疗

Research status of pathogenesis of congenital central hypoventilation syndrome and intervention

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