Diffuse Cystic Lung Diseases: Diagnostic Considerations

Xu, Kai‐Feng; Feng, Ru; Cui, Han; Tian, Xinlun; Wang, Hanping; Zhao, Jing; Huang, Hui; Zhang, Weihong; Lo, Bee Hong

doi:10.1055/s-0036-1580690

Cited by 23 publications

(9 citation statements)

References 30 publications

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“…Pulmonary cysts exist not only in patients with BHD but also in those with DCLD, such as lymphangioleiomyomatosis and Langerhans cell histiocytosis [5]. FLCN , FBN1 , COL3A1 , CBS , SERPINA1 and TSC1 / TSC2 were involved in different DCLD.…”

Section: Discussionmentioning

confidence: 99%

“…Lung-related symptoms are often the earliest phenotypical manifestations to appear, but most patients are asymptomatic [3, 4]. The pulmonary manifestations of BHD occasionally need to be distinguished from other conditions associated with diffuse cysts lung diseases (DCLD), such as lymphangioleiomyomatosis, Langerhans cell histiocytosis, lymphocytic interstitial and pneumonitis [5]. Lack of a comprehensive understanding of BHD often leads to a high misdiagnosis rate.…”

Section: Introductionmentioning

confidence: 99%

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Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome

Liu

Feng

et al. 2017

Orphanet J Rare Dis

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BackgroundBirt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder, the main manifestations of which are fibrofolliculomas, renal tumors, pulmonary cysts and recurrent pneumothorax. The known causative gene for BHD syndrome is the folliculin (FLCN) gene on chromosome 17p11.2. Studies of the FLCN mutation for BHD syndrome are less prevalent in Chinese populations than in Caucasian populations. Our study aims to investigate the genotype spectrum in a group of Chinese patients with BHD.MethodsWe enrolled 51 patients with symptoms highly suggestive of BHD from January 2014 to February 2017. The FLCN gene was examined using PCR and Sanger sequencing in every patient, for those whose Sanger sequencing showed negative mutation results, multiplex ligation-dependent probe amplification (MLPA) testing was conducted to detect any losses of large segments.Main resultsAmong the 51 patients, 27 had FLCN germline mutations. In total, 20 mutations were identified: 14 were novel mutations, including 3 splice acceptor site mutations, 2 different deletions, 6 nonsense mutations, 1 missense mutation, 1 small insertion, and 1 deletion of the whole exon 8.ConclusionsWe found a similar genotype spectrum but different mutant loci in Chinese patients with BHD compared with European and American patients, thus providing stronger evidence for the clinical molecular diagnosis of BHD in China. It suggests that mutation analysis of the FLCN gene should be systematically conducted in patients with cystic lung diseases.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-017-0656-7) contains supplementary material, which is available to authorized users.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome

Liu

Feng

et al. 2017

Orphanet J Rare Dis

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“…In later stages of the disease, cysts become larger and sometimes coalescent. Unlike LCH, the costophrenic angles involvement is pathognomonic, and there is sparing of the apical regions [19] (Figure 3); in addition, the adjacent lung parenchyma is normal, although areas of superimposed ground-glass opacities, secondary to alveolar hemorrhage or lymphatic congestion, are frequently detected [20]. Lung nodules are typically absent in LAM, a feature that helps to distinguish it from LCH.…”

Section: Lymphangioleiomiomatosis (Lam)mentioning

confidence: 99%

Cystic Interstitial Lung Diseases: A Pictorial Review and a Practical Guide for the Radiologist

et al. 2020

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A cyst is a round circumscribed area of low attenuation, surrounded by epithelial or fibrous wall. Cysts can frequently occur on chest computed tomography (CT) and high-resolution computed tomography (HRCT); multiple parenchymal cysts of the lungs are the most typical feature of cystic lung interstitial diseases, characterizing a wide spectrum of diseases—ranging from isolated lung disorders up to diffuse pulmonary diseases. The aim of this review is to analyze scientific literature about cystic lung interstitial diseases and to provide a practical guide for radiologists, focusing on the main morphological features of pulmonary cysts: size, shape, borders, wall, location, and distribution. These features are shown on free-hand drawings and related to HRCT images, in order to help radiologists pursue the correct differential diagnosis between similar conditions.

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“…Diffuse cystic lung disease can be seen in disorders other than LAM, and the differential diagnosis of diffuse cystic lung disease has been reviewed elsewhere 2 , 24 . The diagnosis of LAM is classified as “definite”, “probable”, or “possible” according to the criteria outlined in the 2010 ERS guidelines 3 .…”

Section: Sirolimus Therapy For Lymphangioleiomyomatosismentioning

confidence: 99%

Recent advances in the management of lymphangioleiomyomatosis

Tian

Ryu

2018

F1000Res

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Lymphangioleiomyomatosis is a rare disorder that predominantly affects women and is characterized by progressive cystic changes in the lung, leading to gradually worsening shortness of breath and lung function impairment. Pleural complications such as pneumothorax and chylothorax commonly occur in these patients. Lymphangioleiomyomatosis can occur as a form of lung involvement in tuberous sclerosis complex or as a sporadic form (without tuberous sclerosis complex). Etiology in both forms of this disease centers on mutations in the tuberous sclerosis genes. Advances in our understanding of the regulatory role of tuberous sclerosis gene products (hamartin/tuberin) in the mechanistic target of rapamycin (mTOR) signaling pathway have led to the identification of effective therapy (mTOR inhibitors) for a rare disorder, once considered uniformly fatal. Here, we summarize the evolution of current concepts regarding lymphangioleiomyomatosis with an emphasis on recent advances and unresolved issues.

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Diffuse Cystic Lung Diseases: Diagnostic Considerations

Cited by 23 publications

References 30 publications

Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome

Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome

Cystic Interstitial Lung Diseases: A Pictorial Review and a Practical Guide for the Radiologist

Recent advances in the management of lymphangioleiomyomatosis

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