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引用本文的文献

1
Cardiac sarcoidosis: a comprehensive review of risk factors, pathogenesis, diagnosis, clinical manifestations, and treatment strategies.心脏结节病:危险因素、发病机制、诊断、临床表现及治疗策略的全面综述
Front Cardiovasc Med. 2023 May 19;10:1156474. doi: 10.3389/fcvm.2023.1156474. eCollection 2023.

[单卵双胞胎中的结节病]

[Sarcoidosis in monozygotic twins].

作者信息

Kneitz C, Wilhelm M, Kraus M R, Tony H P, Tschammler A, Jany B

机构信息

Medizinische Poliklinik, Universität Würzburg.

出版信息

Dtsch Med Wochenschr. 1995 Jun 16;120(24):867-73. doi: 10.1055/s-2008-1055419.

DOI:10.1055/s-2008-1055419
PMID:7796723
Abstract

Identical (monozygotic) female twins both simultaneously developed acute sarcoidosis with unusual manifestations. Additional to pulmonary involvement they both also had hypercalcaemia with compensated renal failure. When seen at the age of 33 years, these findings were more marked in one of them (case 2) than in the other, and she also had granulomatous conjunctivitis, while in the other one (case 1) the dominant sign was widespread lymph node enlargement. Both were also found by magnetic resonance imaging to have multiple lesions in the white matter, interpreted as the morphological correlate of neurosarcoidosis. But they caused clinical symptoms (visual disorder, unsteady gait) in only one sister (case 1). Treatment with prednisolone largely normalized the lung functions in case 2, completely in case 1, and renal functions in both. But when the daily prednisolone dose was reduced to below 10 mg, the pulmonary symptoms recurred. These observations indicate that even in chronic sarcoidosis acute episodes may occur, with involvement of multiple organs and other rare complications. The manifestations of the underlying disease in identical twins and the similarities of its course in the two sisters underline the possible role of genetic factors in the pathogenesis of sarcoidosis.

摘要

同卵(单卵)双胞胎女性同时患上了具有不寻常表现的急性结节病。除了肺部受累外,她们还都出现了高钙血症并伴有代偿性肾衰竭。在33岁时接受检查时,这些症状在其中一人(病例2)身上比另一人更为明显,她还患有肉芽肿性结膜炎,而另一人(病例1)的主要症状是广泛的淋巴结肿大。通过磁共振成像还发现两人的白质都有多处病变,被解释为神经结节病的形态学关联。但只有一个姐妹(病例1)出现了临床症状(视力障碍、步态不稳)。泼尼松龙治疗使病例2的肺功能基本恢复正常,病例1完全恢复正常,两人的肾功能也恢复正常。但当泼尼松龙每日剂量减至10毫克以下时,肺部症状复发。这些观察结果表明,即使在慢性结节病中也可能发生急性发作,累及多个器官并出现其他罕见并发症。同卵双胞胎中潜在疾病的表现及其病程在两姐妹中的相似性突显了遗传因素在结节病发病机制中可能发挥的作用。