scholarly journals Sinonasal Manifestations in Cystic Fibrosis

2012 ◽  
Vol 2012 ◽  
pp. 1-7 ◽  
Author(s):  
Karin P. Q. Oomen ◽  
Max M. April
Keyword(s):  
Cystic Fibrosis ◽  
Pulmonary Disease ◽  
Genetic Disease ◽  
Clinical Manifestations ◽  
Exocrine Glands

Cystic fibrosis is a genetic disease, characterized by accumulation of thickened mucous secretions in exocrine glands. Although the major clinical manifestations of the disease are pancreatic and pulmonary disease, the majority of cystic fibrosis patients will develop sinonasal manifestations as well. This paper outlines the etiology, evaluation, and management of the nasal and sinus manifestations in patients with cystic fibrosis.

Urinary Retention Due to Severe Pseudocystic Mucoid Degeneration of the Prostatic Matrix: A Rare Urologic Manifestation of Cystic Fibrosis

2015 ◽  
Vol 95 (4) ◽  
pp. 486-488
Author(s):  
Gesa Kellermann ◽  
Aristotelis G. Anastasiadis ◽  
Desirée L. Dräger ◽  
Friedrich Prall ◽  
Oliver W. Hakenberg
Keyword(s):  
Cystic Fibrosis ◽  
Urinary Retention ◽  
Genetic Disease ◽  
Autosomal Recessive ◽  
Structural Changes ◽  
Histopathological Examination ◽  
Underlying Disease ◽  
Exocrine Glands ◽  
Mucoid Degeneration ◽  
Prostatic Enlargement

Cystic fibrosis (CF) is an autosomal recessive genetic disease, which is characterized by the production of thick mucus in exocrine glands. The main cause for morbidity and mortality in CF patients is respiratory failure. The gastrointestinal system is also commonly affected. Urologic manifestations of CF include infertility and azoospermia, nephrolithiasis, and stress urinary incontinence. In this report, we describe a 33-year-old male, who presented with recurrent urinary retention due to prostatic enlargement despite his young age. After transurethral resection, the voiding problems resolved. Histopathological examination, however, revealed a severe pseudocystic mucoid degeneration of the prostatic matrix as a cause of his subvesical obstruction. Although these structural changes are most probably due to his underlying disease, detailed histologic features have not been described in the literature.

Study on Cystic Fibrosis Evolution in Children

2019 ◽  
Vol 70 (5) ◽  
pp. 1720-1725
Author(s):  
Diana-Maria Trasca ◽  
Cristina Florescu ◽  
Venera Cristina Dinescu ◽  
Ileana Puiu ◽  
Sorin Nicolae Dinescu ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Rare Disease ◽  
Genetic Disease ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Genetic Tests ◽  
Clinical Hospital ◽  
Regional Center ◽  
Caucasian Race ◽  
Recessive Transmission

Cystic fibrosis (CF) or mucoviscidosis, although considered a rare disease, is the most common genetic disease with autosomal recessive transmission of the Caucasian race. The study included 13 children aged between 0 and 18 years diagnosed with CF between 01.01.2000 and 31.12.2018, being recorded, monitored and treated in the Regional Center for CF Craiova from the Pediatrics II Clinic, County Emergency Clinical Hospital Craiova, Romania. For each patient we evaluated the following parameters: the year of CF diagnosis, the age at diagnosis, sex and environment of origin, clinical manifestations at onset, evolution of treatment cases by 2018. Of the 13 children with CF in study, most of them (11) are male. The most common clinical manifestations were the respiratory ones. Genetic tests were performed on all children, highlighting that 6 out of 13 children were homozygous �F508 and 2 children had mutations not genetically identified, requiring sequencing.

RECENT OBSERVATIONS ON PATHOGENESIS OF CYSTIC FIBROSIS OF THE PANCREAS

PEDIATRICS ◽  
1959 ◽  
Vol 24 (2) ◽  
pp. 313-321
Author(s):  
Paul A. di Sant'Agnese
Keyword(s):  
Cystic Fibrosis ◽  
Chemical Structure ◽  
Clinical Manifestations ◽  
The Body ◽  
Common Denominator ◽  
Exocrine Glands ◽  
Heterozygous State ◽  
Respiratory Involvement ◽  
Clinical Events ◽  
The Common

The pathogenesis of cystic fibrosis, the common denominator responsible for the widespread dysfunction of so many or perhaps all exocrine glands, is not known. The basis defect, whatever its nature, is genetically transmitted and there is suggestive evidence that it may be present in varying degrees and so affect the variety and severity of clinical manifestations in different individuals. There are accumulating data to indicate that the heterozygous state may be identified by biochemical or physiologic tests. The abnormal chemical structure of mucoproteins in duodenal contents of patients with cystic fibrosis tends to decrease the solubility, while the abnormal physicochemical behavior shows that these mucoproteins are easily denatured and rendered insoluble. If this were true of mucous secretions throughout the body it would be possible for a change in the physicochemical environment of these mucous secretions to cause irreversible precipitation of mucoproteins in organs such as the pancreas, liver and others, thus initiating the chain of clinical events and leading to many of the symptoms manifested by patients with the disease. Despite the almost constant and striking association of Staphylococcus aureus and the respiratory involvement in cystic fibrosis, the distribution of bacteriophage types of this microorganism resembles that found in other hospitalized patients.

scholarly journals Understanding the relevance of pain, depression and anxiety-like manifestations in the management of cystic fibrosis

2015 ◽  
Vol 67 (3) ◽  
pp. 1067-1070
Author(s):  
Evelina Moraru ◽  
Ramona Diaconu ◽  
Emil Anton ◽  
Laura Bozomitu ◽  
Carmen Anton ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Risk Factors ◽  
Cystic Fibrosis ◽  
Genetic Disease ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Original Data ◽  
Epidemiological Studies ◽  
Depression And Anxiety

Cystic fibrosis (CF) is the most frequent autosomal recessive genetic disease in Caucasians. Although epidemiological studies continue to provide data and information that could lead to a better understanding of the clinical manifestations of the disease, there are still many controversies regarding the importance of some risk factors, such as pain, depression or anxiety in the pathogenesis of this disorder and its management. In the present study, we focused on the relevance of these 3 factors in the management of CF and to their related mechanisms in this disorder. Our original data showed that pain, depression and anxiety, determined by using a specific quality of life (KINDL) questionnaire, are important in understanding this disorder, the effectiveness of treatment and could also represent important factors for improving treatment. The screening and treatment of these specific manifestations in CF patients is recommended and holds promise for improving the outcome of patients with CF.

scholarly journals Correlations Between Respiratory Manifestations And Nutritional Status In Children With Cystic Fibrosis

2020 ◽  
Vol 26 (2) ◽  
pp. 85-90
Author(s):  
Cuzic Viviana ◽  
Mihai Cristina Maria ◽  
Bălașa Adriana ◽  
Mihai Larisia ◽  
Pantazi Alexandru Cosmin
Keyword(s):  
Cystic Fibrosis ◽  
Lung Function ◽  
Nutritional Status ◽  
Genetic Disease ◽  
Severe Disease ◽  
Pancreatic Insufficiency ◽  
Clinical Manifestations ◽  
Failure To Thrive ◽  
Sweat Test ◽  
Heterozygous Patient

Abstract Background: Cystic fibrosis is a multisystemic genetic disease with autosomal recessive transmission, with progressive clinical evolution and potentially fatal, predominantly found in the Caucasian population. It is characterized by chronic lung disease and malabsorption caused by exocrine pancreatic insufficiency. Objective: Screening of patients with persistent respiratory disease and malabsorption syndrome to diagnose cystic fibrosis and monitoring the correlation between respiratory manifestations and nutritional status. Methods: A retrospective study on 8 patients diagnosed with cystic fibrosis, from Department of Pediatrics - Constanta County Emergency Hospital, during the period from 2015 to 2018. Results: 8 patients were diagnosed by genetic test for 34 mutations and polymorphism of CFTR gene; 2 homozygous patients with ∆F508 mutation (second class of mutations) with severe disease, 2 heterozygous patients with ∆F508 mutation del 2,3; 2 heterozygous patients with ∆F508 and R553X mutations, 1 heterozygous patient with N1303K and 394delTT mutations, 1 heterozygous patient with 2183 AA96 and ∆F508 mutation; 7 out of 8 patients were diagnosed in the first year of life by performing the sweat test, with values higher than 120 mmol/L. Clinical manifestations at onset were represented by diarrhea and failure to thrive in 4 cases and in 4 cases respiratory manifestations were associated. More than half of cases had less than 6 months of age at first respiratory exacerbation, which was associated with failure to thrive. Analyzing the correlation between genotype and anthropometric indicators, it was observed that the weight was more affected than the height. The analysis between nutritional status and lung function revealed that obstructive respiratory dysfunction with low FEV1 was correlated with nutritional status. Conclusion: Cystic fibrosis is a severe genetic disease and it is important to diagnose early, because it has been observed that if the diagnosis is established late, the consequences will be severe and lung function will deteriorate earlier.

Epigenetics in Cystic Fibrosis: Epigenetic Targeting of a Genetic Disease

2015 ◽  
Vol 16 (9) ◽  
pp. 976-987 ◽  
Author(s):  
Nualpun Sirinupong ◽  
Zhe Yang
Keyword(s):  
Cystic Fibrosis ◽  
Genetic Disease

scholarly journals Hypophosphatasia: A Unique Disorder of Bone Mineralization

2021 ◽  
Vol 22 (9) ◽  
pp. 4303
Author(s):  
Juan Miguel Villa-Suárez ◽  
Cristina García-Fontana ◽  
Francisco Andújar-Vera ◽  
Sheila González-Salvatierra ◽  
Tomás de Haro-Muñoz ◽  
...  
Keyword(s):  
Alkaline Phosphatase ◽  
Genetic Disease ◽  
Therapeutic Strategy ◽  
Pediatric Patients ◽  
Bone Mineralization ◽  
Clinical Manifestations ◽  
Allelic Heterogeneity ◽  
Specific Enzyme ◽  
Inorganic Pyrophosphate ◽  
Enzyme Replacement

Hypophosphatasia (HPP) is a rare genetic disease characterized by a decrease in the activity of tissue non-specific alkaline phosphatase (TNSALP). TNSALP is encoded by the ALPL gene, which is abundantly expressed in the skeleton, liver, kidney, and developing teeth. HPP exhibits high clinical variability largely due to the high allelic heterogeneity of the ALPL gene. HPP is characterized by multisystemic complications, although the most common clinical manifestations are those that occur in the skeleton, muscles, and teeth. These complications are mainly due to the accumulation of inorganic pyrophosphate (PPi) and pyridoxal-5′-phosphate (PLP). It has been observed that the prevalence of mild forms of the disease is more than 40 times the prevalence of severe forms. Patients with HPP present at least one mutation in the ALPL gene. However, it is known that there are other causes that lead to decreased alkaline phosphatase (ALP) levels without mutations in the ALPL gene. Although the phenotype can be correlated with the genotype in HPP, the prediction of the phenotype from the genotype cannot be made with complete certainty. The availability of a specific enzyme replacement therapy for HPP undoubtedly represents an advance in therapeutic strategy, especially in severe forms of the disease in pediatric patients.

scholarly journals The Multifaceted Roles of MicroRNAs in Cystic Fibrosis

Diagnostics ◽  
2020 ◽  
Vol 10 (12) ◽  
pp. 1102
Author(s):  
Fatima Domenica Elisa De Palma ◽  
Valeria Raia ◽  
Guido Kroemer ◽  
Maria Chiara Maiuri
Keyword(s):  
Cystic Fibrosis ◽  
Respiratory Infections ◽  
Current Knowledge ◽  
Pancreatic Insufficiency ◽  
Clinical Manifestations ◽  
Predictive Biomarkers ◽  
Loss Of Function ◽  
Gene Encoding ◽  
Multisystemic Disease

Cystic fibrosis (CF) is a lifelong disorder affecting 1 in 3500 live births worldwide. It is a monogenetic autosomal recessive disease caused by loss-of-function mutations in the gene encoding the chloride channel cystic fibrosis transmembrane conductance regulator (CFTR), the impairment of which leads to ionic disequilibria in exocrine organs. This translates into a chronic multisystemic disease characterized by airway obstruction, respiratory infections, and pancreatic insufficiency as well as hepatobiliary and gastrointestinal dysfunction. Molecular characterization of the mutational heterogeneity of CFTR (affected by more than 2000 variants) improved the understanding and management of CF. However, these CFTR variants are linked to different clinical manifestations and phenotypes, and they affect response to treatments. Expanding evidence suggests that multisystemic disease affects CF pathology via impairing either CFTR or proteins regulated by CFTR. Thus, altering the expression of miRNAs in vivo could constitute an appealing strategy for developing new CF therapies. In this review, we will first describe the pathophysiology and clinical management of CF. Then, we will summarize the current knowledge on altered miRNAs in CF patients, with a focus on the miRNAs involved in the deregulation of CFTR and in the modulation of inflammation. We will highlight recent findings on the potential utility of measuring circulating miRNAs in CF as diagnostic, prognostic, and predictive biomarkers. Finally, we will provide an overview on potential miRNA-based therapeutic approaches.

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