科凯恩综合征与肺气肿。
Cockayne's syndrome and emphysema.
作者信息
Cunningham M, Godfrey S, Moffat W M
出版信息
Arch Dis Child. 1978 Sep;53(9):722-5. doi: 10.1136/adc.53.9.722.
Abstract
A 5-year-old boy with Cockayne's syndrome is described. In addition to the recognised clinical features, he presented with severe fixed airways obstruction, and investigations confirmed clinical and physiological emphysema. In a disorder associated with many of the features of aging, it is probably that the presence of relative alpha-1-antitrypsin deficiency (1.5 g/l) in a child with PiMZ phenotype, contributed to his severe lung disease.
摘要
本文描述了一名患有科凯恩综合征的5岁男孩。除了已公认的临床特征外，他还出现了严重的固定性气道阻塞，检查证实存在临床和生理性肺气肿。在一种与许多衰老特征相关的疾病中，一名具有PiMZ表型的儿童体内相对α-1-抗胰蛋白酶缺乏（1.5g/l），这可能是导致其严重肺部疾病的原因。
相似文献
1
Cockayne's syndrome and emphysema.
Arch Dis Child. 1978 Sep;53(9):722-5. doi: 10.1136/adc.53.9.722.
2
Corneal dystrophy in Cockayne's syndrome.
Br J Ophthalmol. 1973 Jun;57(6):391-9. doi: 10.1136/bjo.57.6.391.
3
Renal lesions in Cockayne's syndrome.
Clin Nephrol. 1988 Apr;29(4):206-9.
4
The natural history of air-flow obstruction in PiZ emphysema. Report of an NHLBI workshop.
Am Rev Respir Dis. 1983 Feb;127(2):S43-5. doi: 10.1164/arrd.1983.127.2P2.S43.
5
[Cockayne's syndrome. Cachectic dwarfism with hearing disorder, mental retardation and oligophrenia].
Fortschr Med. 1973 Nov 15;91(32):1257-63.
6
Cockayne's syndrome: case report.
J Neurol Neurosurg Psychiatry. 1971 Apr;34(2):171-8. doi: 10.1136/jnnp.34.2.171.
7
Cockayne's syndrome. Roentgen findings.
Am J Roentgenol Radium Ther Nucl Med. 1972 Nov;116(3):623-33. doi: 10.2214/ajr.116.3.623.
8
Emphysema, cirrhosis, and heart block in a young patient with partial alpha 1 antitrypsin deficiency (PiMZ phenotype).
Br Med J (Clin Res Ed). 1985 Dec 14;291(6510):1673-4. doi: 10.1136/bmj.291.6510.1673.
9
Prevalence and impact of bronchiectasis in alpha1-antitrypsin deficiency.
Am J Respir Crit Care Med. 2007 Dec 15;176(12):1215-21. doi: 10.1164/rccm.200703-489OC. Epub 2007 Sep 13.
10
Donohue's syndrome--leprechaunism--Cockayne's syndrome. A report of two patients and discussion of the relation between Donohue's Syndrome and Cockayne's Syndrome.
Eur Neurol. 1972;7(1):26-33. doi: 10.1159/000114410.
引用本文的文献
1
The neuropathy of Cockayne syndrome.
Acta Neuropathol. 1983;61(2):153-6. doi: 10.1007/BF00697396.
本文引用的文献
1
A syndrome resembling progeria: A review of two cases.
Arch Dis Child. 1950 Sep;25(123):213-23. doi: 10.1136/adc.25.123.213.
2
CLINICAL TYPES OF CHRONIC OBSTRUCTIVE LUNG DISEASE IN LONDON AND IN CHICAGO. A STUDY OF ONE HUNDRED PATIENTS.
Am Rev Respir Dis. 1964 Jul;90:14-27. doi: 10.1164/arrd.1964.90.1.14.
3
COCKAYNE'S SYNDROME. A REPORT OF FIVE NEW CASES WITH BIOCHEMICAL, CHROMOSOMAL, DERMATOLOGIC, GENETIC AND NEUROPATHOLOGIC OBSERVATIONS.
Dermatol Trop Ecol Geogr. 1963 Oct-Dec;15:195-203.
4
PULMONARY EMPHYSEMA AND ALPHA1-ANTITRYPSIN DEFICIENCY.
Acta Med Scand. 1964 Feb;175:197-205. doi: 10.1111/j.0954-6820.1964.tb00567.x.
5
The neuropathology of Cockayne's syndrome.
J Neuropathol Exp Neurol. 1967 Oct;26(4):654-60. doi: 10.1097/00005072-196710000-00010.
6
Cockayne's syndrome. Report of case with necropsy findings.
Acta Neuropathol. 1969 Sep 9;14(1):52-61. doi: 10.1007/BF00687702.
7
Antitrypsin deficiency in pulmonary disease: the significance of intermediate levels.
Ann Intern Med. 1969 Sep;71(3):533-42. doi: 10.7326/0003-4819-71-3-533.
8
Cockayne's syndrome: case report.
J Neurol Neurosurg Psychiatry. 1971 Apr;34(2):171-8. doi: 10.1136/jnnp.34.2.171.
9
Alpha 1 antitrypsin deficiency in association with both cirrhosis and chronic obstructive lung disease in two sibs.
Am J Med. 1973 Feb;54(2):181-94. doi: 10.1016/0002-9343(73)90222-2.
10
Cockayne's syndrome. Roentgen findings.
Am J Roentgenol Radium Ther Nucl Med. 1972 Nov;116(3):623-33. doi: 10.2214/ajr.116.3.623.
Zotero 插件