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.

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.

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.

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.

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

Rhinosinusitis in the Pediatric Patient with Cystic Fibrosis

2014 ◽  
Vol 10 (3) ◽  
pp. 198-201 ◽  
Author(s):  
Christopher Fundakowski ◽  
Rosemary Ojo ◽  
Ramzi Younis
Keyword(s):  
Cystic Fibrosis ◽  
Autosomal Recessive ◽  
Pediatric Patients ◽  
Surgical Intervention ◽  
Chronic Sinusitis ◽  
Genetic Disorder ◽  
Symptomatic Relief ◽  
Recurrence Rates ◽  
Polyp Recurrence ◽  
Sinonasal Polyposis

Cystic fibrosis (CF) is a common autosomal recessive genetic disorder where a deletion mutation and subsequent downstream alteration in transmembrane regulator proteins results in increased mucus viscosity. CF manifests clinically with chronic multisystem inflammation and recurrent infections. Nearly all children with CF have chronic sinusitis, and a large majority will have concurrent sinonasal polyposis. Chronic sinusitis and sinonasal polyposis in pediatric patients with CF can be managed conservatively initially, though most will fail medical management and require surgical intervention. Unfortunately, symptom resolution is marginal and polyp recurrence rates are high. Currently, no cure exists for CF and the mainstay of treatment is to provide symptomatic relief, and minimize disease morbidity.

scholarly journals The Epidemiology of Cystic Fibrosis in Arab Countries: A Systematic Review

2021 ◽  
Vol 3 (2) ◽  
pp. 490-498
Author(s):  
Samer Hammoudeh ◽  
Wessam Gadelhaq ◽  
Yahya Hani ◽  
Nadia Omar ◽  
Darine El Dimassi ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
United Arab Emirates ◽  
Autosomal Recessive ◽  
Arab World ◽  
Life Quality ◽  
Epidemiological Data ◽  
Arab Countries ◽  
Inclusion Criteria ◽  
Multiple Systems ◽  
Endocrine Symptoms

AbstractCystic fibrosis (CF) is a genetic autosomal recessive disease that involves multiple systems. Both life quality and expectation are affected by the debilitating multi-system involvement of the disease which includes pulmonary, gastrointestinal, reproductive, and endocrine symptoms. Very few studies have covered the epidemiological aspects of the disease among Arab countries. To systematically review the available epidemiological literature on cystic fibrosis in order to describe the epidemiological state of this disease in the Arab world, this review used PubMed to search for relevant articles related to patients with cystic fibrosis, with no restriction on gender or age. Google scholar and the snowballing technique were used to locate further articles. A total of 17 articles met the inclusion criteria for this review. These articles were from Bahrain, Egypt, Jordan, Kuwait, Morocco, Oman, Saudi Arabia, Tunisia, and the United Arab Emirates. The articles scored 1.5–6.5 out of 8 on the quality assessment. The epidemiological data reported varied based on country and type of study. The establishment of CF registries is definitely a priority in the region, as well as the need for more research involving CF patients particularly those involving the epidemiological and clinical characteristics of these patients.

Cystic Fibrosis Manifested as Undescended Testis and Absence of Vas Deferens

PEDIATRICS ◽  
1992 ◽  
Vol 90 (6) ◽  
pp. 982-983
Author(s):  
RAN GOSHEN ◽  
EITAN KEREM ◽  
TZIPORA SHOSHANI ◽  
BAT-SHEVA KEREM ◽  
ELAD FEIGIN ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Autosomal Recessive ◽  
Undescended Testis ◽  
Vas Deferens ◽  
Pancreatic Insufficiency ◽  
European Ancestry ◽  
Inherited Disease ◽  
Musculoskeletal Problems ◽  
Male Patients ◽  
Almost All

Cystic fibrosis (CF) is the most common autosomal recessive inherited disease in whites. Among whites of European ancestry, approximately 1 in 2000 live births are affected, implying a carrier frequency of 1:25.1 The disease is characterized by chronic lung disease, which usually leads to the patient's death. Furthermore, patients with CF suffer from pancreatic insufficiency and other less common manifestations, such as meconium ileus, hepatobiliary abnormalities, diabetes mellitus, and musculoskeletal problems.1 Almost all males with CF are infertile. Absence of the vas deferens has been reported in 70% to more than 90% of male patients affected by CF.2 Although 4% of full-term male neonates have un-descended testes at birth, 0.8% to 1.0% of 1-year-old boys have cryptorchism and may be subjected to a later surgical intervention.3

Using chest CT scan and unsupervised machine learning for predicting and evaluating response to lumacaftor-ivacaftor in people with cystic fibrosis

2021 ◽  
pp. 2101344
Author(s):  
Alienor Campredon ◽  
Enzo Battistella ◽  
Clémence Martin ◽  
Isabelle Durieu ◽  
Laurent Mely ◽  
...  
Keyword(s):  
Machine Learning ◽  
Cystic Fibrosis ◽  
Ct Scan ◽  
Structural Changes ◽  
Clinical Status ◽  
Chest Ct ◽  
Ct Scans ◽  
Wall Thickening ◽  
Unsupervised Machine Learning ◽  
One Year

ObjectivesLumacaftor-ivacaftor is a cystic fibrosis transmembrane conductance regulator (CFTR) modulator known to improve clinical status in people with cystic fibrosis (CF). This study aimed to assess lung structural changes after one year of lumacaftor-ivacaftor treatment, and to use unsupervised machine learning to identify morphological phenotypes of lung disease that are associated with response to lumacaftor-ivacaftor.MethodsAdolescents and adults with CF from the French multicenter real-world prospective observational study evaluating the first year of treatment with lumacaftor-ivacaftor were included if they had pretherapeutic and follow-up chest computed tomography (CT)-scans available. CT scans were visually scored using a modified Bhalla score. A k-mean clustering method was performed based on 120 radiomics features extracted from unenhanced pretherapeutic chest CT scans.ResultsA total of 283 patients were included. The Bhalla score significantly decreased after 1 year of lumacaftor-ivacaftor (−1.40±1.53 points compared with pretherapeutic CT; p<0.001). This finding was related to a significant decrease in mucus plugging (−0.35±0.62 points; p<0.001), bronchial wall thickening (−0.24±0.52 points; p<0.001) and parenchymal consolidations (−0.23±0.51 points; p<0.001). Cluster analysis identified 3 morphological clusters. Patients from cluster C were more likely to experience an increase in percent predicted forced expiratory volume in 1 sec (ppFEV1) ≥5 under lumacaftor–ivacaftor than those in the other clusters (54% of responders versus 32% and 33%; p=0.01).ConclusionOne year treatment with lumacaftor-ivacaftor was associated with a significant visual improvement of bronchial disease on chest CT. Radiomics features on pretherapeutic CT scan may help in predicting lung function response under lumacaftor-ivacaftor.

scholarly journals Stigma and cystic fibrosis

2010 ◽  
Vol 18 (1) ◽  
pp. 139-142 ◽  
Author(s):  
Tainá Maues Peluci Pizzignacco ◽  
Débora Falleiros de Mello ◽  
Regina Aparecida Garcia de Lima
Keyword(s):  
Quality Of Life ◽  
Cystic Fibrosis ◽  
Chronic Disease ◽  
Children And Adolescents ◽  
Treatment Adherence ◽  
Family Relationships ◽  
Life Histories ◽  
Autosomal Recessive ◽  
Family Members

Cystic Fibrosis (CF), also known as Mucoviscidosis, is a chronic disease of autosomal recessive origin and so far incurable. This analysis considers some characteristics of patients and family members that indicate it is a stigmatizing disease. The CF stigma’s impact on the lives of children and adolescents can affect treatment adherence, socialization, family relationships and the formation of their life histories, with direct consequences on their quality of life.

scholarly journals Sindrome de allgrove en niños. Reporte de 11 casos

2020 ◽  
Vol 50 (4) ◽  
Author(s):  
María Carmen Álvarez López ◽  
Pedro Coello Ramírez ◽  
Elizabeth García Rodríguez ◽  
Mariana Ordoñez Cárdenas ◽  
Fátima Azereth Reynoso Zarzosa
Keyword(s):  
Adrenal Insufficiency ◽  
Genetic Disease ◽  
High Frequency ◽  
Clinical Characteristics ◽  
Autosomal Recessive ◽  
Allgrove Syndrome ◽  
Documented Case ◽  
Responsible Gene ◽  
Neurological Alterations ◽  
Chronic Vomiting

Background. Allgrove Syndrome is a very rare genetic disease, which is inherited in an autosomal recessive way. The responsible gene is the AAAS, that encodes the protein ALADIN. It occurs most often in children of consanguineous parents. It is characterized by the classic triad of achalasia, alacrima, and adrenal insufficiency due to resistance to ACTH; the presence of two of the three previous manifestation events are required to establish the diagnosis. There is also a high frequency of the neurologic symptoms. Objective. Describe the clinical characteristics, age of presentation and evolution in 11 patients with Allgrove Syndrome. Methods. 11 clinical cases compatible with Allgrove Syndrome of presentation in childhood are retrospectively reviewed. Results. The average age at diagnosis was 5.9 years (range 1-16 years old). There was a predominance of the female sex (n = 7). The most common symptoms were postprandial vomiting and alacrima, present in 100% of the cases at the time of diagnosis. Adrenal insufficiency was not common; it was only documented in one patient. There was consanguinity between parents in 62.5% of the cases. Conclusions. Allgrove Syndrome is an uncommon cause of dysphagia, chronic vomiting and failure to grow in children. In case of any documented case of achalasia it is suggested to question in a directed way the presence of alacrima and adrenal insufficiency data such as seizures, hyperpigmentation of the skin and neurological alterations.

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