scholarly journals Clarifying the relationship between pulmonary langerhans cell histiocytosis and Alpha 1 antitrypsin deficiency

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Cormac McCarthy ◽  
Emmanuelle Bugnet ◽  
Amira Benattia ◽  
Michael P. Keane ◽  
Benoit Vedie ◽  
...  
Keyword(s):  
Langerhans Cell Histiocytosis ◽  
Langerhans Cell ◽  
Entire Study ◽  
Cystic Lung ◽  
Pulmonary Langerhans Cell Histiocytosis ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Study Population ◽  
Alpha 1 Antitrypsin ◽  
The Relationship

AbstractPulmonary Langerhans cell histiocytosis (PLCH) is a rare, smoking related, progressive diffuse cystic lung disease that occurs primarily in smokers. The aim of this study was to determine if there was an increase in alpha-1 antitrypsin deficient alleles or phenotypes in a large series of PLCH patients and whether serum alpha-1 antitrypsin levels correlated with markers of disease severity. Fifty PLCH patients, 24 with a diffuse cystic lung pattern and 26 with a typical nodulo-cystic pattern on imaging were included. The mean alpha-1 antitrypsin levels were in normal range for both the population with diffuse cystic lung pattern population (1.39 g/L ± 0.37) and the nodulo-cystic pattern group (1.41 g/L ± 0.21). Deficiency alleles PiZ and PiS were 1% and 2% respectively in the entire study population of 50 patients, demonstrating no increased incidence of alpha-1 antitrypsin deficiency in PLCH. Alpha-1 antitrypsin levels showed no correlation with lung function parameters or extent of cystic lesions on lung computed tomography.

Pulmonary Langerhans Cell Histiocytosis

2020 ◽  
Vol 41 (02) ◽  
pp. 269-279
Author(s):  
Brian Shaw ◽  
Michael Borchers ◽  
Dani Zander ◽  
Nishant Gupta
Keyword(s):  
Langerhans Cell Histiocytosis ◽  
Treatment Options ◽  
Skin Lesions ◽  
Langerhans Cell ◽  
Mitogen Activated Protein Kinase ◽  
Myeloid Neoplasm ◽  
Cystic Lung ◽  
Pulmonary Langerhans Cell Histiocytosis ◽  
Mitogen Activated Protein ◽  
The Central Nervous System

AbstractPulmonary Langerhans cell histiocytosis (PLCH) is a diffuse cystic lung disease that is strongly associated with exposure to cigarette smoke. Recently, activating pathogenic mutations in the mitogen-activated protein kinase pathway have been described in the dendritic cells in patients with PLCH and have firmly established PLCH to be an inflammatory myeloid neoplasm. Disease course and prognosis in PLCH are highly variable among individual patients, ranging from spontaneous resolution to development of pulmonary hypertension and progression to terminal respiratory failure. A subset of patients with PLCH may have extrapulmonary involvement, typically involving the skeletal system in the form of lytic lesions, skin lesions, or the central nervous system most commonly manifesting in the form of diabetes insipidus. Smoking cessation is the cornerstone of treatment in patients with PLCH and can lead to disease regression or stabilization in a substantial proportion of patients. Further insight into the underlying molecular pathogenesis of PLCH has paved the way for the future development of disease-specific biomarkers and targeted treatment options directed against the central disease-driving mutations.

scholarly journals Pulmonary Langerhans cell histiocytosis with inguinal abscess: Unusual presentation

2020 ◽  
Vol 29 (1) ◽  
pp. 64-66
Author(s):  
Kamarul Naim Mohd Hirmizi ◽  
Nurul Yaqeen Mohd Esa ◽  
Mardiana Abdul Aziz ◽  
Nor Salmah Bakar ◽  
Mohammad Hanafiah
Keyword(s):  
Lymph Node ◽  
Langerhans Cell Histiocytosis ◽  
Respiratory Symptoms ◽  
Inguinal Lymph Node ◽  
Langerhans Cell ◽  
Histopathological Analysis ◽  
Intermittent Fever ◽  
Cystic Lung ◽  
Pulmonary Langerhans Cell Histiocytosis ◽  
History Of

We report a case of a 30-year-old man who was treated as recurrent right inguinal abscess following a 2-month history of right inguinal swelling and intermittent fever with no respiratory symptoms. Resection of his right inguinal lymph node and the histopathological analysis revealed the diagnosis of Langerhans cell histiocytosis. In addition, the CT of the thorax showed presence of bilateral cystic lung changes consistent with pulmonary Langerhans cell histiocytosis.

scholarly journals The etiology of diffuse cystic lung diseases: an analysis of 1010 consecutive cases in a LAM clinic

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Han Cui ◽  
Chongsheng Cheng ◽  
Wenshuai Xu ◽  
Xinlun Tian ◽  
Yanli Yang ◽  
...  
Keyword(s):  
Sjögren’S Syndrome ◽  
Langerhans Cell Histiocytosis ◽  
Sjögren's Syndrome ◽  
Sjogren’S Syndrome ◽  
Sjogren's Syndrome ◽  
Langerhans Cell ◽  
Light Chain Deposition Disease ◽  
Cystic Lung ◽  
Pulmonary Langerhans Cell Histiocytosis ◽  
Sjögren‘S Syndrome

Abstract Background The differential diagnosis of diffuse cystic lung disease (DCLD) is a clinical challenge. We wish to analyze the distribution of the etiology of DCLD based on data from a single lymphangioleiomyomatosis (LAM) clinic. Methods All DCLD patients at the LAM Clinic of Peking Union Medical College Hospital between January 2006 and December 2019 were analyzed. Information on the demographic, clinical, radiological, and pathological features was collected. Results A total of 1010 patients with DCLD on CT scan were evaluated. A sum of 711(70.4%) patients were diagnosed with definite or probable LAM. Other diagnoses included Birt–Hogg–Dubé syndrome (46), Sjogren's syndrome (38), pulmonary Langerhans cell histiocytosis (14), lung tumors (3), Castleman disease (2), antineutrophil cytoplasmic antibody-associated vasculitis (2), systemic lupus erythematosus (1), Marfan syndrome (1), amyloidosis (1), congenital cystic adenomatoid malformation of the lung (1), and pleuroparenchymal fibroelastosis (1). In the 38 patients diagnosed with Sjogren's syndrome, 2 were diagnosed with light-chain deposition disease, 2 were diagnosed with amyloidosis and 1 was diagnosed with lymphocytic interstitial pneumonia. One hundred and eighty-nine patients (18.7%) were undiagnosed. Lung biopsy results were available in 27 patients in the undiagnosed DCLD group but did not provide a diagnosis. Conclusion Approximately 70% of DCLD patients in our LAM clinic had LAM. The common differential diagnoses included Birt–Hogg–Dubé syndrome, Sjogren’s syndrome, and pulmonary Langerhans cell histiocytosis. Detailed clinical information and laboratory, genetic, and pathological investigations provide correct diagnoses in most patients with DCLD.

scholarly journals Paediatric pulmonary Langerhans cell histiocytosis

Breathe ◽  
2020 ◽  
Vol 16 (2) ◽  
pp. 200003
Author(s):  
Mhairi Barclay ◽  
Rebecca Devaney ◽  
Jayesh. M. Bhatt
Keyword(s):  
Respiratory Failure ◽  
Lung Disease ◽  
Langerhans Cell Histiocytosis ◽  
Multidisciplinary Treatment ◽  
Langerhans Cell ◽  
List Type ◽  
Cystic Lung ◽  
Pulmonary Langerhans Cell Histiocytosis ◽  
Cystic Lung Disease ◽  
Management Of Complications

Paediatric pulmonary Langerhans cell histiocytosis (pPLCH) is a rare diffuse cystic lung disease. Unlike pulmonary Langerhans cell histiocytosis (LCH) in adults, which is often seen as an isolated condition with smoking being a major risk factor, isolated pPLCH is vanishingly rare in children and it is most often a component of multisystem LCH. Diagnosis should be based on histological and immunophenotypic examination of affected tissue in addition to clinical and radiological features. It should be considered an important differential for diffuse cystic lung disease in paediatric patients. Recent progress in the biological understanding of the disease supports the classification of LCH as an inflammatory myeloid neoplasia. Chemotherapy and specific management of respiratory complications are the mainstays of treatment. The lungs are no longer considered a “risk organ” in LCH as pulmonary involvement is not associated with a worse prognosis than the involvement of other organs. Multidisciplinary treatment approaches are needed.Prognosis can be good but is adversely influenced by multisystem involvement, and complications such as pneumothoraces and respiratory failure can be life threatening. This review aims to give an overview of this condition, with a focus on the diagnosis, monitoring and management of complications such as pneumothoraces and respiratory failure, which can be challenging for the paediatric respiratory specialist.Educational aimsTo give an overview of paediatric pulmonary LCH.To discuss the differential diagnosis of paediatric cystic lung disease.

scholarly journals Is PiSS Alpha-1 Antitrypsin Deficiency Associated with Disease?

2010 ◽  
Vol 2010 ◽  
pp. 1-6 ◽  
Author(s):  
Dawn McGee ◽  
Laura Schwarz ◽  
Rebecca McClure ◽  
Lauren Peterka ◽  
Farshid Rouhani ◽  
...  
Keyword(s):  
Liver Disease ◽  
Population Based ◽  
Medication History ◽  
Antitrypsin Deficiency ◽  
Clinical Diagnoses ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Study Population ◽  
Alpha 1 Antitrypsin ◽  
Study Participants ◽  
Similar Incidence

Background. Alpha-1 antitrypsin deficiency (AAT) is an inherited condition that predisposes to lung and/or liver disease.Objective. The current study examined the clinical features of the PiSS genotype.Methods. Nineteen study participants (PiSS) and 29 matched control participants (PiMM) were telephone interviewed using a standardized questionnaire. Demographic features, cigarette smoking, vocation, medication history, and clinical diagnoses were compared. Statistical analysis was performed. Finally, a comprehensive literature review was performed by two investigators.Results. 12/19 (63.2%) study participants reported the presence of lung and/or liver disease compared to 12/29 (41.4%) control participants. There trended toward having a higher frequency of medication allergies in the study population (42.11% versus 20.69%).Conclusions. The PiSS genotype was associated with a similar incidence of obstructive lung disease to controls. Selective bias intrinsic in testing for AAT deficiency and the rarity of the PiSS genotype will make future study of this association dependent on population-based tests.

Alpha 1-antitrypsin deficiency—A defect in secretion

1987 ◽  
Vol 7 (4) ◽  
pp. 307-311 ◽  
Author(s):  
R. C. Foreman
Keyword(s):  
Secretory Cell ◽  
Xenopus Oocytes ◽  
Polypeptide Chain ◽  
Site Directed Mutagenesis ◽  
Naturally Occurring ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin ◽  
Lysine Substitution ◽  
The Relationship

A naturally occurring point mutation in the human alpha 1-antitrypsin gene leads to the synthesis of a variant of the protein which is poorly secreted from hepatocytes. This Z; mutation codes for a glutamic acid to lysine substitution at residue 342 in the polypeptide chain. The mutant protein is correctly translocated into the lumen of the endoplasmic reticulum and core glycosylated but inefficiently transported beyond the ER compartment. Experiments using Xenopus oocytes as a surrogate secretory cell show that abberant secretion of the variant is not confined to hepatocytes and glycosylation of the polypeptide is not obligatory for the block in secretion. Site-directed mutagenesis can be used to examine the effect of natural mutations on protein structure and the relationship between structure and intraceltular transport.

scholarly journals Exploring the relationship between alpha-1-antitrypsin deficiency and persistent airflow limitation in severe asthma

2017 ◽  
Author(s):  
Guillermo Menga ◽  
Daniel Colodenco ◽  
Magdalena Mercuri Guillemi ◽  
Luciana Montoto Piazza ◽  
Juan Rodríguez Moncalvo ◽  
...  
Keyword(s):  
Severe Asthma ◽  
Airflow Limitation ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin ◽  
The Relationship
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