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Kartagener syndrome: an uncommon cause of neonatal respiratory distress?

作者信息

Losa M, Ghelfi D, Hof E, Felix H, Fanconi S

机构信息

University Children's Hospital, Zürich, Switzerland.

出版信息

Eur J Pediatr. 1995 Mar;154(3):236-8. doi: 10.1007/BF01954280.

DOI:10.1007/BF01954280
PMID:7758526
Abstract

We report a newborn with respiratory distress and situs inversus totalis. The diagnosis of primary ciliary dyskinesia was confirmed by both ultrastructural and functional investigations. The immotile cilia syndrome was suspected because of respiratory distress, situs inversus, abnormal nasal discharge and hyperinflated chest X-ray. We suggest that ultrastructural and functional investigations of the respiratory mucosa should be done in any newborn with respiratory distress without explanation for the respiratory problems. Establishment of the correct diagnosis at an early stage may allow to improve the prognosis provided prophylactic physiotherapy, vaccinations, and aggressive antibiotic treatment of intercurrent respiratory infections are instituted. CONCLUSION Despite its rarity, primary ciliary dyskinesia should be considered in unexplained cases of neonatal distress.

摘要

相似文献

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Kartagener syndrome: an uncommon cause of neonatal respiratory distress?
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2
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引用本文的文献

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KARTAGENER SYNDROME.卡塔格内综合征
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Management of primary ciliary dyskinesia/Kartagener's syndrome in infertile male patients and current progress in defining the underlying genetic mechanism.不育男性原发性纤毛运动障碍/卡塔格内综合征的管理及确定潜在遗传机制的当前进展。
Asian J Androl. 2014 Jan-Feb;16(1):101-6. doi: 10.4103/1008-682X.122192.

本文引用的文献

1
Kartagener's syndrome in a newborn infant.
J Am Med Assoc. 1956 Jul 7;161(10):966-8. doi: 10.1001/jama.1956.62970100004009b.
2
The immotile-cilia syndrome in a newborn infant.一名新生儿的不动纤毛综合征。
Int J Pediatr Otorhinolaryngol. 1980 Apr;2(1):33-7. doi: 10.1016/0165-5876(80)90026-9.
3
Abnormal cilia in a child with the polysplenia syndrome and extrahepatic biliary atresia.患有多脾综合征和肝外胆道闭锁的儿童出现异常纤毛。
J Pediatr. 1982 Mar;100(3):399-401. doi: 10.1016/s0022-3476(82)80438-1.
4
Genetical and ultrastructural aspects of the immotile-cilia syndrome.不动纤毛综合征的遗传学和超微结构方面
Am J Hum Genet. 1981 Nov;33(6):852-64.
5
Immotile cilia syndrome: a new cause of neonatal respiratory distress.不动纤毛综合征:新生儿呼吸窘迫的一个新病因。
Arch Dis Child. 1981 Jun;56(6):432-5. doi: 10.1136/adc.56.6.432.
6
Inheritance of Kartagener syndrome.卡塔格内综合征的遗传
Am J Med Genet. 1981;8(3):305-13. doi: 10.1002/ajmg.1320080309.
7
Normal ciliary ultrastructure in children with Kartagener's syndrome.卡塔格内综合征患儿的正常睫状体超微结构
Ann Otol Rhinol Laryngol. 1980 Jan-Feb;89(1 Pt 1):81-3. doi: 10.1177/000348948008900120.
8
Ciliary defects associated with the development of bronchopulmonary dysplasia. Ciliary motility and ultrastructure.与支气管肺发育不良发生相关的纤毛缺陷。纤毛运动和超微结构。
Am Rev Respir Dis. 1984 Jan;129(1):190-3. doi: 10.1164/arrd.1984.129.1.190.
9
[Kartagener syndrome with neonatal manifestation].[伴有新生儿表现的卡塔格内综合征]
Minerva Pediatr. 1984 Mar 15;36(5):265-8.
10
Immotile cilia syndrome.不动纤毛综合征
N Engl J Med. 1983 Mar 10;308(10):595. doi: 10.1056/NEJM198303103081017.