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Rare Respiratory Diseases: A Personal and a Public Health Problem...
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Rare Respiratory Diseases: A Personal and a Public Health Problem 2.0

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Pulmonology".

Deadline for manuscript submissions: closed (15 December 2022) | Viewed by 26073

Special Issue Editor

Prof. Dr. Francisco Dasí

E-Mail Website
Guest Editor
Department of Physiology, School of Medicine, University of Valencia, 46010 Valencia, Spain
Interests: rare respiratory diseases; alpha-1 antitrypsin deficiency; primary ciliary dyskinesia; cystic fibrosis; idiopathic pulmonary fibrosis
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

About two years ago, we proposed to the Journal of Clinical Medicine editorial board to launch a Special Issue on rare respiratory diseases to promote research in this important field of medicine. Even in these times of pandemic, researchers have been very active, and the issue was quite successful, with 19 articles submitted, of which 11 were published (https://0-www-mdpi-com.brum.beds.ac.uk/journal/jcm/special_issues/Rare_Respiratory_Diseases).

During the last few months, some of the authors who published their research in our first Special Issue have been asking about the possibility of launching a second Special Issue on rare respiratory diseases. In response to their requests and the growing interest in this type of pathologies, we have decided to launch a second issue on rare respiratory diseases.

Just as a brief reminder. A rare disease is defined as any disease that affects a small percentage of the population. Rare diseases are, in general, complex, chronic, debilitating diseases, which in many cases threaten patients’ lives. It is estimated that the number of people worldwide living with a rare disease is about 300 million; indeed, a public health problem. Due to the low prevalence and severity of many of these diseases, whose symptoms often initially manifest in childhood, combined efforts are needed to improve knowledge of the pathophysiology of these diseases that will lead to the development of new, more effective treatments.

In this second issue, we would like to show a special interest in pulmonary arterial hypertension (PAH), a complex disease characterized by elevated pulmonary arterial resistance, right ventricle failure, and premature death. Articles on PAH are most welcome and will receive special attention.

Finally, given the great social burden of this type of disease, we extend the spectrum of articles of interest to the social aspects of rare respiratory diseases.

We hope this new issue will be of interest to you, and we look forward to receiving your basic, clinical, and social research papers.

Prof. Dr. Francisco Dasí
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • rare diseases
  • rare respiratory diseases
  • alpha-1 antitrypsin deficiency
  • primary ciliary dyskinesia
  • cystic fibrosis
  • idiopathic pulmonary fibrosis
  • lymphangioleiomyomatosis
  • interstitial lung diseases
  • pulmonary arterial hypertension

Related Special Issue

Published Papers (9 papers)

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Research

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13 pages, 2122 KiB  
Article
The Challenging Diagnosis of Interstitial Lung Disease in Children—One Case Report and Literature Review
by Marcela Daniela Ionescu, Nicoleta Aurelia Popescu, Diana Stănescu, Augustina Enculescu, Mihaela Bălgrădean, Georgiana Mihaela Căpitănescu and Dragos Bumbăcea
J. Clin. Med. 2022, 11(22), 6736; https://0-doi-org.brum.beds.ac.uk/10.3390/jcm11226736 - 14 Nov 2022
Cited by 3 | Viewed by 1884
Abstract
Childhood interstitial lung disease (chILD) includes a heterogeneous spectrum of rare respiratory disorders in children associated with substantial morbi-mortality. Interstitial tissue, and other pulmonary structures, epithelium, blood vessels, or pleura are involved, resulting in a restrictive lung disfunction. Respiratory symptoms set in progressively [...] Read more.
Childhood interstitial lung disease (chILD) includes a heterogeneous spectrum of rare respiratory disorders in children associated with substantial morbi-mortality. Interstitial tissue, and other pulmonary structures, epithelium, blood vessels, or pleura are involved, resulting in a restrictive lung disfunction. Respiratory symptoms set in progressively and are often subtle, making thorough clinical history and physical examination fundamental. The etiology often is obscure. The clinical presentation mimics pneumonia or asthma, leading to a diagnostic delay. Challenging diagnosis may require genetic tests, bronchoalveolar lavage, or lung biopsy. Alongside general supportive therapeutic measures, anti-inflammatory, immunosuppressive or antifibrotic agents may be used, based on data derived from adult studies. However, if accurate diagnosis and treatment are delayed, irreversible chronic respiratory failure may ensue, impacting prognosis. The most frequent chILD is hypersensitivity pneumonitis (HP), although it is rare in children. HP is associated with exposure to an environmental antigen, resulting in inflammation of the airways. Detailed antigen exposure history and identification of the inciting trigger are the cornerstones of diagnostic. This article provides the current state of chILD, revealing specific features of HP, based on a clinical case report of a patient admitted in our clinic, requiring extensive investigations for diagnosis, with a favorable long-term outcome. Full article
(This article belongs to the Special Issue Rare Respiratory Diseases: A Personal and a Public Health Problem 2.0)
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18 pages, 296 KiB  
Article
The Impact on Parents of Diagnosing PCD in Young Children
by Corine Driessens, Siobhan Carr, Edel Clough, Fiona Copeland, Sharon Dell, Lucy Dixon, Amanda Harris, Rebecca Knibb, Margaret Leigh, Manjith Narayanan, Beatrice Redfern, Evie Robson, Michael Sawras, Lynne Schofield, Kelli Sullivan, Myra Tipping, Nhu Tran, Woolf Walker, Jane S. Lucas and Laura Behan
J. Clin. Med. 2022, 11(16), 4774; https://0-doi-org.brum.beds.ac.uk/10.3390/jcm11164774 - 16 Aug 2022
Cited by 3 | Viewed by 2196
Abstract
Primary ciliary dyskinesia (PCD) is an incurable, rare, inherited, chronic condition. Treatment includes the regular clearing of airway mucus, aggressive treatment of infections and management of hearing loss. Caregiver burden has not been explored, hence we interviewed 18 mothers and 6 fathers of [...] Read more.
Primary ciliary dyskinesia (PCD) is an incurable, rare, inherited, chronic condition. Treatment includes the regular clearing of airway mucus, aggressive treatment of infections and management of hearing loss. Caregiver burden has not been explored, hence we interviewed 18 mothers and 6 fathers of children under 6 years to understand the impact of diagnostic testing and implications of a positive diagnosis. Interviews were transcribed and thematically analysed and five key themes were identified. These included the parents’ experiences following child’s diagnosis, impact of child’s treatment regimen on parent, impact of child’s health status on parent, parent’s coping strategies, and parental concerns for the future. Parents described their diagnostic journey, with the findings revealing how a lack of awareness among clinicians of the PCD symptom pattern can lead to a delayed diagnosis. Parents discussed the emotional and practical impact of a PCD diagnosis and the coping strategies employed to deal with challenges arising following a diagnosis. Parents use a variety of different lifestyle changes to accommodate their child’s treatment regimen and to cope with disruptive life events such as the COVID-19 pandemic. This study provides valuable insights into parental adjustment and adaptation to a PCD diagnosis and management regimen. Going forward, this research highlights the need for integrated social care for PCD patients and their families. Full article
(This article belongs to the Special Issue Rare Respiratory Diseases: A Personal and a Public Health Problem 2.0)
10 pages, 651 KiB  
Article
Changes in Oxygenation and Serological Markers in Acute Exacerbation of Interstitial Lung Disease Treated with Polymyxin B Hemoperfusion
by Song-I Lee, Chaeuk Chung, Dongil Park, Da Hyun Kang and Jeong Eun Lee
J. Clin. Med. 2022, 11(9), 2485; https://0-doi-org.brum.beds.ac.uk/10.3390/jcm11092485 - 28 Apr 2022
Viewed by 1384
Abstract
Background: Polymyxin B direct hemoperfusion (PMX-DHP) has been tried in acute exacerbation of interstitial lung disease (AE-ILD) patients and has shown clinical benefit. In this study, we tried to investigate the change in oxygenation and serologic markers after PMX-DHP treatment in AE-ILD patients [...] Read more.
Background: Polymyxin B direct hemoperfusion (PMX-DHP) has been tried in acute exacerbation of interstitial lung disease (AE-ILD) patients and has shown clinical benefit. In this study, we tried to investigate the change in oxygenation and serologic markers after PMX-DHP treatment in AE-ILD patients in Korea. Methods: We reviewed the medical records of twenty-two patients who were admitted for AE-ILD and underwent PMX-DHP treatment. Changes in vital signs and laboratory findings before and after treatment were compared and factors related to 90-day mortality were analyzed using the Cox regression model. Results: Of the 22 included patients, 11 (50%) patients were diagnosed with idiopathic pulmonary fibrosis. In AE-ILD patients treated with PMX-DHP, the 28-day mortality rate was 45.5% and the 90-day mortality rate was 72.7%. The P/F ratio before and after PMX-DHP treatment significantly improved in patients from baseline to 24 h (median (IQR), 116.3 (88.5–134.3) mmHg vs. 168.6 (115.5–226.8) mmHg, p = 0.001), and 48 h (116.3 (88.5–134.3) mmHg vs. 181.6 (108.9–232.0) mmHg, p = 0.003). Also, white blood cells (WBCs) and C-reactive protein (CRP) were decreased after PMX-DHP treatment. High acute physiology and chronic health evaluation II scores were associated with 90-day mortality. Conclusions: In patients with AE-ILD, PMX-DHP treatment was associated with an improved P/F ratio and lower WBC and CRP levels. Full article
(This article belongs to the Special Issue Rare Respiratory Diseases: A Personal and a Public Health Problem 2.0)
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24 pages, 2160 KiB  
Article
A Study on the Genetics of Primary Ciliary Dyskinesia
by Mohammed T. Alsamri, Amnah Alabdouli, Durdana Iram, Alia M. Alkalbani, Ayesha S. Almarzooqi, Abdul-Kader Souid and Ranjit Vijayan
J. Clin. Med. 2021, 10(21), 5102; https://0-doi-org.brum.beds.ac.uk/10.3390/jcm10215102 - 30 Oct 2021
Cited by 7 | Viewed by 2330
Abstract
Primary ciliary dyskinesia (PCD) is a poorly understood disorder. It is primarily autosomal recessive and is prevalent in tribal communities of the United Arab Emirates due to consanguineous marriages. This retrospective study aimed to assess the pathogenicity of the genetic variants of PCD [...] Read more.
Primary ciliary dyskinesia (PCD) is a poorly understood disorder. It is primarily autosomal recessive and is prevalent in tribal communities of the United Arab Emirates due to consanguineous marriages. This retrospective study aimed to assess the pathogenicity of the genetic variants of PCD in indigenous patients with significant clinical respiratory problems. Pathogenicity scores of variants obtained from the chart review were consolidated using the Ensembl Variant Effect Predictor. The multidimensional dataset of scores was clustered into three groups based on their pathogenicity. Sequence alignment and the Jensen–Shannon Divergence (JSD) were generated to evaluate the amino acid conservation at the site of the variation. One-hundred and twelve variants of 28 genes linked to PCD were identified in 66 patients. Twenty-two variants were double heterozygous, two triple heterozygous, and seven homozygous. Of the thirteen novel variants, two, c.11839 + 1G > A in dynein, axonemal, heavy chain 11 (DNAH11) and p.Lys92Trpfs in dynein, axonemal, intermediate chain 1 (DNAI1) were associated with dextrocardia with situs inversus, and one, p.Gly21Val in coiled-coil domain-containing protein 40 (CCDC40), with absent inner dynein arms. Homozygous C1orf127:p.Arg113Ter (rs558323413) was also associated with laterality defects in two related patients. The majority of variants were missense involving conserved residues with a median JSD score of 0.747. Homology models of two deleterious variants in the stalk of DNAH11, p.Gly3102Asp and p.Leu3127Arg, revealed structural importance of the conserved glycine and leucine. These results define potentially damaging PCD variants in the region. Future studies, however, are needed to fully comprehend the genetic underpinnings of PCD. Full article
(This article belongs to the Special Issue Rare Respiratory Diseases: A Personal and a Public Health Problem 2.0)
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Review

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10 pages, 753 KiB  
Review
Idiopathic Pulmonary Fibrosis and Telomeres
by Alba Mulet and Jaime Signes-Costa
J. Clin. Med. 2022, 11(23), 6893; https://0-doi-org.brum.beds.ac.uk/10.3390/jcm11236893 - 22 Nov 2022
Cited by 2 | Viewed by 1339
Abstract
Idiopathic pulmonary fibrosis is an interstitial lung disease of unknown etiology with a highly compromised prognosis and a significant mortality rate within a few years of diagnosis. Despite being idiopathic, it has been shown that telomeric shortening could play an important role in [...] Read more.
Idiopathic pulmonary fibrosis is an interstitial lung disease of unknown etiology with a highly compromised prognosis and a significant mortality rate within a few years of diagnosis. Despite being idiopathic, it has been shown that telomeric shortening could play an important role in its etiopathogenesis. Mutations in telomere-related genes have been identified, but they are not always present despite telomere shortening. On the other hand, this telomeric shortening has been linked to a worse prognosis of the disease independently of other clinical factors, implying it may serve as a biomarker. Full article
(This article belongs to the Special Issue Rare Respiratory Diseases: A Personal and a Public Health Problem 2.0)
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9 pages, 823 KiB  
Review
Combined Sarcoidosis and Idiopathic Pulmonary Fibrosis (CSIPF): A New Phenotype or a Fortuitous Overlap? Scoping Review and Case Series
by Laura Bergantini, Gabriele Nardelli, Miriana d’Alessandro, Giusy Montuori, Caterina Piccioli, Elisabetta Rosi, Sara Gangi, Dalila Cavallaro, Paolo Cameli and Elena Bargagli
J. Clin. Med. 2022, 11(7), 2065; https://0-doi-org.brum.beds.ac.uk/10.3390/jcm11072065 - 06 Apr 2022
Cited by 7 | Viewed by 2156
Abstract
Idiopathic pulmonary fibrosis (IPF) and sarcoidosis are two distinct clinical entities with different aetiology, epidemiology, risk factors, symptoms and chest imaging. A number of papers have reported an overlap of the two diseases and have suggested the existence of a distinct phenotype defined [...] Read more.
Idiopathic pulmonary fibrosis (IPF) and sarcoidosis are two distinct clinical entities with different aetiology, epidemiology, risk factors, symptoms and chest imaging. A number of papers have reported an overlap of the two diseases and have suggested the existence of a distinct phenotype defined as combined sarcoidosis and idiopathic pulmonary fibrosis (CSIPF). We used the scoping review protocol to review the literature on CSIPF. We also enrolled a cohort of nine CSIPF patients and compared them with lone-IPF and fibrotic sarcoidosis patients. Our CSIPF cohort showed male prevalence and only ex-smokers. Functional assessment at baseline showed mild to moderate restrictive impairment of lung volumes in lone-IPF and CSIPF patients, associated with moderate-to-severe reduction in DLco percentages. Although all CSIPF patients were on antifibrotic treatments, functional impairment occurred in the two years of follow up. This suggests the importance of considering these patients at high risk of rapid deterioration and lung damage. Full article
(This article belongs to the Special Issue Rare Respiratory Diseases: A Personal and a Public Health Problem 2.0)
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9 pages, 417 KiB  
Review
Methodologies for the Determination of Blood Alpha1 Antitrypsin Levels: A Systematic Review
by Borja Ruiz-Duque, Lucía Bañuls, Rocio Reinoso-Arija, Laura Carrasco-Hernandez, Candelaria Caballero-Eraso, Francisco Dasí and José Luis Lopez-Campos
J. Clin. Med. 2021, 10(21), 5132; https://0-doi-org.brum.beds.ac.uk/10.3390/jcm10215132 - 31 Oct 2021
Cited by 4 | Viewed by 1941
Abstract
Background: The study of hematic concentrations of alpha1 antitrypsin (AAT) is currently one step in the diagnosis of AAT deficiency. To try to clarify the relevance of the laboratory techniques, we carried out a systematic review of the literature. Methods: Studies evaluating the [...] Read more.
Background: The study of hematic concentrations of alpha1 antitrypsin (AAT) is currently one step in the diagnosis of AAT deficiency. To try to clarify the relevance of the laboratory techniques, we carried out a systematic review of the literature. Methods: Studies evaluating the quantification of AAT in peripheral blood were searched in PubMed in July 2021. The selection criteria included (1) any type of study design that included a quantification of AAT in peripheral blood; (2) studies written in English or Spanish; (3) studies evaluating human beings; and (4) studies involving adults. Results: Out of 207 studies, the most frequently used techniques were nephelometry (43.9%), followed by ELISA (19.8%) and turbidimetry (13.5%). Altogether, 182 (87.9%) cases expressed their results in units of gram, while 16 (7.7%) articles expressed them in units of mole. Only 2.9% articles referred to the standard used, 43.5% articles indicated the commercial kit used, and 36.2% indicated the analyzer used. Conclusions: The technical aspects of these determinations are not always reported in the literature. Journals should be attentive to these technical requirements and ensure that they are included in the works in which AAT is determined in order to ensure a correct interpretation of the study findings. Full article
(This article belongs to the Special Issue Rare Respiratory Diseases: A Personal and a Public Health Problem 2.0)
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Other

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9 pages, 4208 KiB  
Case Report
Novel SPEF2 Variant in a Japanese Patient with Primary Ciliary Dyskinesia: A Case Report and Literature Review
by Mayako Mori, Takashi Kido, Noriho Sakamoto, Mutsumi Ozasa, Kumiko Kido, Yasuko Noguchi, Takatomo Tokito, Daisuke Okuno, Hirokazu Yura, Atsuko Hara, Hiroshi Ishimoto, Takashi Suematsu, Yasushi Obase, Yoshimasa Tanaka, Koichi Izumikawa, Kazuhiko Takeuchi and Hiroshi Mukae
J. Clin. Med. 2023, 12(1), 317; https://0-doi-org.brum.beds.ac.uk/10.3390/jcm12010317 - 31 Dec 2022
Cited by 2 | Viewed by 1405
Abstract
Primary ciliary dyskinesia (PCD) is a genetic and congenital disease associated with an abnormal ciliary ultrastructure and function and is estimated to affect 1 in 15,000–20,000 individuals. A PCD diagnosis can be achieved by genotyping. Here, we performed whole-exome analysis for the diagnosis [...] Read more.
Primary ciliary dyskinesia (PCD) is a genetic and congenital disease associated with an abnormal ciliary ultrastructure and function and is estimated to affect 1 in 15,000–20,000 individuals. A PCD diagnosis can be achieved by genotyping. Here, we performed whole-exome analysis for the diagnosis of PCD and described the detailed clinical characteristics of the case. A 39-year-old Japanese woman with sinusitis and bronchiectasis without situs inversus had had upper and lower respiratory symptoms since childhood and had received long-term macrolide therapy without an accurate diagnosis. A moderate deterioration of cilia function was observed by high-speed video microscopy analysis; additionally, the number of cells with moving cilia was fewer than that in patients without PCD. Electron microscopy revealed no apparent structural abnormalities. We performed whole-exome analysis and identified novel biallelic variants of SPEF2 in the homozygous state (c.1860_1861insCT). We confirmed the absence of SPEF2 protein expression in the cilia of the nasal mucosa using fluorescent immunostaining. Accordingly, she was diagnosed as having PCD with the SPEF2 variant. The present case suggests that the deterioration of cilia function is moderate, the number of respiratory cells with moving cilia might be reduced, and the respiratory condition could be severe in patients with PCD with the SPEF2 variant. Full article
(This article belongs to the Special Issue Rare Respiratory Diseases: A Personal and a Public Health Problem 2.0)
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19 pages, 2957 KiB  
Perspective
Etiologic Classification of Diffuse Parenchymal (Interstitial) Lung Diseases
by Matthias Griese
J. Clin. Med. 2022, 11(6), 1747; https://0-doi-org.brum.beds.ac.uk/10.3390/jcm11061747 - 21 Mar 2022
Cited by 27 | Viewed by 9644
Abstract
Interstitial lung diseases (ILD) or diffuse parenchymal lung diseases (DPLD) comprise a large number of disorders. Disease definition and classification allow advanced and personalized judgements on clinical disease, risks for genetic or environmental transmissions, and precision medicine treatments. Registers collect specific rare entities [...] Read more.
Interstitial lung diseases (ILD) or diffuse parenchymal lung diseases (DPLD) comprise a large number of disorders. Disease definition and classification allow advanced and personalized judgements on clinical disease, risks for genetic or environmental transmissions, and precision medicine treatments. Registers collect specific rare entities and use ontologies for a precise description of complex phenotypes. Here we present a brief history of ILD classification systems from adult and pediatric pneumology. We center on an etiologic classification, with four main categories: lung-only (native parenchymal) disorders, systemic disease-related disorders, exposure-related disorders, and vascular disorders. Splitting diseases into molecularly defined entities is key for precision medicine and the identification of novel entities. Lumping diseases targeted by similar diagnostic or therapeutic principles is key for clinical practice and register work, as our experience with the European children’s ILD register (chILD-EU) demonstrates. The etiologic classification favored combines pediatric and adult lung diseases in a single system and considers genomics and other -omics as central steps towards the solution of “idiopathic” lung diseases. Future tasks focus on a systems’ medicine approach integrating all data and bringing precision medicine closer to the patients. Full article
(This article belongs to the Special Issue Rare Respiratory Diseases: A Personal and a Public Health Problem 2.0)
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