Neonatal Intensive Care Unit, Children's Hospital, Zhejiang University School of Medicine/National Clinical Research Center for Child Health, Hangzhou 310052, China
Abstract：A boy was admitted on day 3 after birth due to shortness of breath for 2 days and cyanosis for 1 day. He had clinical manifestations of dyspnea in the early postnatal period and situs inversus, and was finally diagnosed with Kartagener syndrome. His condition was improved after oxygen therapy, anti-infective therapy, and aerosol therapy. The genetic testing showed that there was a large-fragment loss of heterozygosity, exon 48_50, and a hemizygous mutation, c.7915C > T(p.R2639X), in the DNAH5 gene. Kartagener syndrome is a rare autosomal recessive disease, and this is the first case of Kartagener syndrome diagnosed in the neonatal period in China.
Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants:a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology[J]. Genet Med, 2015, 17(5):405-424. DOI:10.1038/gim.2015.30. PMID:25741868.
[2]
Kennedy MP, Omran H, Leigh MW, et al. Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia[J]. Circulation, 2007, 115(22):2814-2821. DOI:10.1161/CIRCULATIONAHA.106.649038. PMID:17515466.
[3]
Werner C, Onnebrink JG, Omran H. Diagnosis and management of primary ciliary dyskinesia[J]. Cilia, 2015, 4(1):2. DOI:10.1186/s13630-014-0011-8. PMID:25610612.
[4]
Kuehni CE, Frischer T, Strippoli MP, et al. Factors influencing age at diagnosis of primary ciliary dyskinesia in European children[J]. Eur Respir J, 2010, 36(6):1248-1258. DOI:10.1183/09031936.00001010. PMID:20530032.
Davis SD, Ferkol TW, Rosenfeld M, et al. Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype[J]. Am J Respir Crit Care Med, 2015, 191(3):316-324. DOI:10.1164/rccm.201409-1672OC. PMID:25493340.
[7]
Mullowney T, Manson D, Kim R, et al. Primary ciliary dyskinesia and neonatal respiratory distress[J]. Pediatrics, 2014, 134(6):1160-1166. DOI:10.1542/peds.2014-0808. PMID:25422025.
[8]
Fitzgerald DA, Shapiro AJ. When to suspect primary ciliary dyskinesia in children[J]. Paediatr Respir Rev, 2016, 18:3-7. DOI:10.1016/j.prrv.2015.11.006. PMID:26822945.
[9]
Ferkol T, Leigh M. Primary ciliary dyskinesia and newborn respiratory distress[J]. Semin Perinatol, 2006, 30(6):335-340. DOI:10.1053/j.semperi.2005.11.001. PMID:17142159.
[10]
Mirra V, Werner C, Santamaria F. Primary ciliary dyskinesia:an update on clinical aspects, genetics, diagnosis, and future treatment strategies[J]. Front Pediatr, 2017, 5:135. DOI:10.3389/fped.2017.00135. PMID:28649564.
[11]
Boon M, Smits A, Cuppens H, et al. Primary ciliary dyskinesia:critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure[J]. Orphanet J Rare Dis, 2014, 9:11. DOI:10.1186/1750-1172-9-11. PMID:24450482.
[12]
Hosie PH, Fitzgerald DA, Jaffe A, et al. Presentation of primary ciliary dyskinesia in children:30 years' experience[J]. J Paediatr Child Health, 2015, 51(7):722-726. DOI:10.1111/jpc.12791. PMID:25510893.
[13]
Dalrymple RA, Kenia P. European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia:a guideline review[J]. Arch Dis Child Educ Pract Ed, 2019, 104(5):265-269. DOI:10.1136/archdischild-2017-312902. PMID:30076157.
[14]
Pérez Crespo MDR, Fariñas Salto M, Chacón Aguilar R, et al. Kartagener syndrome:neonatal diagnosis. A case report[J]. Arch Argent Pediatr, 2019, 117(3):e292-e296. DOI:10.5546/aap.2019.e292. PMID:31063320.
[15]
Xu X, Gong P, Wen J. Clinical and genetic analysis of a family with Kartagener syndrome caused by novel DNAH5 mutations[J]. J Assist Reprod Genet, 2017, 34(2):275-281. DOI:10.1007/s10815-016-0849-3. PMID:27988889.
[16]
Pereira R, Barbosa T, Gales L, et al. Clinical and genetic analysis of children with Kartagener syndrome[J]. Cells, 2019, 8(8):900. DOI:10.3390/cells8080900. PMID:31443223.
[17]
Zhang LL, Feng XG, Zhang JH, et al. Co-occurrence of Moyamoya syndrome and Kartagener syndrome caused by the mutation of DNAH5 and DNAH11:a case report[J]. BMC Neurol, 2020, 20(1):314. DOI:10.1186/s12883-020-01895-x. PMID:32847546.
[18]
Loges NT, Olbrich H, Fenske L, et al. DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm[J]. Am J Hum Genet, 2008, 83(5):547-558. DOI:10.1016/j.ajhg.2008.10.001. PMID:18950741.
[19]
Onoufriadis A, Paff T, Antony D, et al. Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia[J]. Am J Hum Genet, 2013, 92(1):88-98. DOI:10.1016/j.ajhg.2012.11.002. PMID:23261303.
[20]
Lucas JS, Burgess A, Mitchison HM, et al. Diagnosis and management of primary ciliary dyskinesia[J]. Arch Dis Child, 2014, 99(9):850-856. DOI:10.1136/archdischild-2013-304831. PMID:24771309.
[21]
Lai M, Pifferi M, Bush A, et al. Gene editing of DNAH11 restores normal cilia motility in primary ciliary dyskinesia[J]. J Med Genet, 2016, 53(4):242-249. DOI:10.1136/jmedgenet-2015-103539. PMID:26729821.
