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An Unusual Cause of Respiratory Distress in Term Neonate.

作者信息

Alallah Jubara S, Makki Reham, Saber Arwa A, Moustafa Ahmed, Ghandourah Hasan

机构信息

Neonatology, King Abdulaziz Medical City, Jeddah, SAU.

Collage of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, SAU.

出版信息

Cureus. 2022 Aug 1;14(8):e27547. doi: 10.7759/cureus.27547. eCollection 2022 Aug.

DOI:10.7759/cureus.27547
PMID:36059358
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9428618/
Abstract

We report a female infant who was born at 41+6 weeks of gestation to a consanguineous parent, and the initial newborn examination was within normal. At 12 hours of age, she developed tachypnea; with desaturation, she had continuous thick whitish oral secretion. Admitted to the neonatal intensive care unit (NICU) for further management, her initial blood investigation, including blood gas and chest X-ray, was normal. Due to the persistent unexplained respiratory distress with a normal chest X-ray, we obtained a further history from parents with three siblings with respiratory symptoms but no definitive diagnosis. The genetic testing of whole-exome sequences (WES) confirmed a homozygous variant c.804_806del, p.(Lys268del) in the RSPH9 gene that causes primary ciliary dyskinesia (PCD). Her three siblings were tested and found to have the same genetic mutation.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b18/9428618/9cbe4433ceb6/cureus-0014-00000027547-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b18/9428618/cca82ac51f2b/cureus-0014-00000027547-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b18/9428618/9cbe4433ceb6/cureus-0014-00000027547-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b18/9428618/cca82ac51f2b/cureus-0014-00000027547-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b18/9428618/9cbe4433ceb6/cureus-0014-00000027547-i02.jpg

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本文引用的文献

1
Respiratory Distress in the Newborn with Primary Ciliary Dyskinesia.原发性纤毛运动障碍新生儿的呼吸窘迫
Children (Basel). 2021 Feb 18;8(2):153. doi: 10.3390/children8020153.
2
Primary ciliary dyskinesia among Arabs: Where do we go from here?原发性纤毛运动障碍在阿拉伯人中：我们接下来该怎么做？
Paediatr Respir Rev. 2019 Feb;29:19-22. doi: 10.1016/j.prrv.2018.09.002. Epub 2018 Sep 15.
3
Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies.原发性纤毛运动障碍：临床方面、遗传学、诊断及未来治疗策略的最新进展
Front Pediatr. 2017 Jun 9;5:135. doi: 10.3389/fped.2017.00135. eCollection 2017.
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Primary Ciliary Dyskinesia.原发性纤毛运动障碍
Clin Chest Med. 2016 Sep;37(3):449-61. doi: 10.1016/j.ccm.2016.04.008. Epub 2016 Jun 30.
5
A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder.一例由单基因与染色体疾病共存导致的原发性纤毛运动障碍、左右缺陷和发育迟缓的病例报告。
BMC Med Genet. 2015 Jun 30;16:45. doi: 10.1186/s12881-015-0192-z.
6
Primary ciliary dyskinesia and neonatal respiratory distress.原发性纤毛运动障碍与新生儿呼吸窘迫
Pediatrics. 2014 Dec;134(6):1160-6. doi: 10.1542/peds.2014-0808.
7
Two cases of primary ciliary dyskinesia with different responses to macrolide treatment.两例原发性纤毛运动障碍对大环内酯类治疗反应不同。
Intern Med. 2012;51(9):1093-8. doi: 10.2169/internalmedicine.51.6617. Epub 2012 Apr 29.
8
Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children.原发性纤毛运动障碍：儿童诊断和治疗方法的共识声明。
Eur Respir J. 2009 Dec;34(6):1264-76. doi: 10.1183/09031936.00176608.
9
Primary ciliary dyskinesia (PCD).原发性纤毛运动障碍（PCD）。
Pediatr Pulmonol. 2000 Apr;29(4):307-16. doi: 10.1002/(sici)1099-0496(200004)29:4<307::aid-ppul11>3.0.co;2-2.