Cystic fibrosis

2018 ◽  
Author(s):  
Rowland J. Bright-Thomas ◽  
Andrew M. Jones
Keyword(s):  
Cystic Fibrosis ◽  
Gastrointestinal Tract ◽  
Reproductive System ◽  
Autosomal Recessive ◽  
Pulmonary Infection ◽  
Autosomal Recessive Disorder ◽  
Carrier State ◽  
Male Reproductive System ◽  
Morbidity And Mortality ◽  
Basic Defect

Cystic fibrosis is the most common lethal autosomal recessive disorder in Caucasians. There is no known survival advantage of the heterozygote carrier state. Chronic progressive pulmonary infection and bronchiectasis are the major causes of morbidity and mortality. The disease affects all ductal systems where the basic defect is manifest, including the pancreas, gastrointestinal tract, sinuses, hepatobiliary system, and male reproductive system, and has significant effects on nutrition and growth.

scholarly journals A Roadmap to the Brittle Bones of Cystic Fibrosis

2011 ◽  
Vol 2011 ◽  
pp. 1-10 ◽  
Author(s):  
Ashwini P. Gore ◽  
Soon Ho Kwon ◽  
Antine E. Stenbit
Keyword(s):  
Cystic Fibrosis ◽  
Lung Transplantation ◽  
Bone Disease ◽  
Bone Health ◽  
Autosomal Recessive ◽  
Multidisciplinary Approach ◽  
Early Recognition ◽  
Autosomal Recessive Disorder ◽  
Fatal Disease ◽  
Brittle Bones

Cystic fibrosis (CF) is an autosomal recessive disorder which despite advances in medical care continues to be a life-limiting and often fatal disease. With increase in life expectancy of the CF population, bone disease has emerged as a common complication. Unlike the osteoporosis seen in postmenopausal population, bone disease in CF begins at a young age and is associated with significant morbidity due to fractures, kyphosis, increased pain, and decreased lung function. The maintenance of bone health is essential for the CF population during their lives to prevent pain and fractures but also as they approach lung transplantation since severe bone disease can lead to exclusion from lung transplantation. Early recognition, prevention, and treatment are key to maintaining optimal bone health in CF patients and often require a multidisciplinary approach. This article will review the pathophysiology, current clinical practice guidelines, and potential future therapies for treating CF-related bone disease.

scholarly journals ASTHMA IN CYSTIC FIBROSIS

2015 ◽  
Vol 64 (2) ◽  
pp. 118-121
Author(s):  
Marcela Daniela Ionescu ◽  
◽  
Ioana-Alina Anca ◽  
Mihaela Balgradean ◽  
◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Lung Disease ◽  
Airway Obstruction ◽  
Autosomal Recessive ◽  
Pulmonary Infection ◽  
Autosomal Recessive Disease ◽  
Personal History ◽  
Common Symptom ◽  
Infection And Inflammation ◽  
History Of

Cystic fibrosis (CF) is the most common autosomal recessive disease in Caucasians. Lung disease is characterized by impaired mucocilliary clearance with airway obstruction and chronic pulmonary infection and inflammation. Wheeze is a common symptom in CF, but in some cases the wheeze is due to the presence of concomitant asthma. There is no consensus on how to define CF asthma, but the diagnosis is predominantly based on the patient’s strong family and personal history of atopy.

Triple A syndrome: a case report

2020 ◽  
pp. 004947552096194
Author(s):  
Piyush Manoria
Keyword(s):  
Case Report ◽  
Early Diagnosis ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Morbidity And Mortality ◽  
Adrenal Failure ◽  
Triple A Syndrome ◽  
Rare Autosomal Recessive Disorder ◽  
High Degree

Triple A syndrome is a rare autosomal recessive disorder characterised by alacrimia, achalasia and adrenal failure. It was first reported by Allgrove in 1978 and 100 cases have been reported worldwide. This case report concerns a 24-year-old woman who was referred for evaluation of dysphagia and was finally diagnosed as such a case. A high degree of suspicion enables all the components of this syndrome to be searched for, as early diagnosis can reduce the morbidity and mortality.

Nasal and Paranasal Sinus Surgery in Children with Cystic Fibrosis

1987 ◽  
Vol 96 (4) ◽  
pp. 367-372 ◽  
Author(s):  
Dennis M. Crockett ◽  
Trevor J. McGill ◽  
Gerald B. Healy ◽  
Ellen M. Friedman ◽  
Lesley J. Salkeld
Keyword(s):  
Cystic Fibrosis ◽  
Autosomal Recessive ◽  
Nasal Polyposis ◽  
Autosomal Recessive Disorder ◽  
Sinus Surgery ◽  
Fibrocystic Disease ◽  
Paranasal Sinus Surgery ◽  
Extent Of Surgery ◽  
Sinus Drainage

Cystic fibrosis (mucoviscidosis; fibrocystic disease of the pancreas) is an inherited autosomal recessive disorder that results in generalized dysfunction of exocrine glands. Chronic pansinusitis with nasal polyposis occurs frequently in this disease. Polypectomy and sinus drainage procedures are often required in those cases refractory to medical therapy. Recurrence of nasal polyps following removal is common. Controversy exists regarding the timing and extent of surgery. The management of 40 children with cystic fibrosis who underwent nasal polypectomy, intranasal ethmoidectomy, and Caldwell-Luc procedures to treat extensive sinusitis and nasal polyposis forms the basis for this report. Follow-up data indicate that fewer recurrences and longer symptom-free intervals result when intranasal ethmoidectomy and Caldwell-Luc procedures are combined with polypectomy.

scholarly journals An unusual presentation of biotinidase deficiency in infant: High anion gap metabolic acidosis

2021 ◽  
Vol 36 ◽  
pp. 57-59
Author(s):  
Pooja Shashidhar Wali ◽  
Preetham Tauro ◽  
Pavan Hegde ◽  
Habeeb Ullah Khan ◽  
M. D Jaidev
Keyword(s):  
Metabolic Acidosis ◽  
Early Diagnosis ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Biotinidase Deficiency ◽  
Unusual Presentation ◽  
Anion Gap ◽  
Morbidity And Mortality ◽  
Infantile Seizures

Biotinidase deficiency (BTD) is hereditary autosomal recessive disorder with higher morbidity and mortality if left untreated. We report this case to increase awareness about BTD, presenting with infantile seizures, encephalopathy with high anion gap metabolic acidosis, eczema and to emphasize the importance of early diagnosis in reversal of metabolic acidosis and seizures refractory to multiple anticonvulsants with biotin replacement.

scholarly journals Empyema due to a highly transmissible Pseudomonas aeruginosa strain in an adult cystic fibrosis patient

2010 ◽  
Vol 59 (5) ◽  
pp. 614-616 ◽  
Author(s):  
Kamlesh Mohan ◽  
Vinay Lakshman ◽  
Joanne L. Fothergill ◽  
Martin J. Ledson ◽  
Craig Winstanley ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Pseudomonas Aeruginosa ◽  
Respiratory Failure ◽  
Cystic Fibrosis Patient ◽  
Pulmonary Infection ◽  
Pleural Empyema ◽  
Morbidity And Mortality ◽  
Epidemic Strain ◽  
First Case ◽  
Progressive Respiratory Failure

Chronic pulmonary infection with Pseudomonas aeruginosa occurs in up to 85 % of individuals with cystic fibrosis (CF) by the time they reach adulthood, and is the major cause of morbidity and mortality: nearly all patients die from progressive respiratory failure due to repeated pulmonary exacerbations. However, despite the predilection of this organism for the lungs of CF people, infection of the pleura is much less common and is not well described in the CF population. We describe what is believed to be the first case of pleural empyema due to a particularly pathogenic transmissible strain of P. aeruginosa (the Liverpool epidemic strain) in an adult CF patient.

Three Cases of Joubert Syndrome in a Consanguineous Syrian Family and a Interesting Case of Multinational Collaboration

2021 ◽  
Author(s):  
Davor Petrović ◽  
Vida Čulić ◽  
Zofia Swinderek-Alsayed
Keyword(s):  
Low Income ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Joubert Syndrome ◽  
Interesting Case ◽  
Low Income Countries ◽  
Ocular Motor ◽  
Quality Health Care ◽  
Quality Health ◽  
Motor Apraxia

AbstractJoubert syndrome (JS) is a rare congenital, autosomal recessive disorder characterized by a distinctive brain malformation, developmental delay, ocular motor apraxia, breathing abnormalities, and high clinical and genetic heterogeneity. We are reporting three siblings with JS from consanguineous parents in Syria. Two of them had the same homozygous c.2172delA (p.Trp725Glyfs*) AHI1 mutation and the third was diagnosed prenatally with magnetic resonance imaging. This pathogenic variant is very rare and described in only a few cases in the literature. Multinational collaboration could be of benefit for the patients from undeveloped, low-income countries that have a low-quality health care system, especially for the diagnosis of rare diseases.

A Case of Congenital Glucose Galactose Malabsorption with a New Mutation in the SLC5A1 Gene

2020 ◽  
Author(s):  
Hasan Akduman ◽  
Dilek Dilli ◽  
Serdar Ceylaner
Keyword(s):  
Mutation Analysis ◽  
Autosomal Recessive ◽  
Glucose Transporter ◽  
Neonatal Period ◽  
Autosomal Recessive Disorder ◽  
Homozygous Mutation ◽  
New Mutation ◽  
Early Neonatal Period ◽  
Sodium Dependent ◽  
Hypernatremic Dehydration

AbstractCongenital glucose-galactose malabsorption (CGGM) is an autosomal recessive disorder originating from an abnormal transporter mechanism in the intestines. It was sourced from a mutation in the SLC5A1 gene, which encodes a sodium-dependent glucose transporter. Here we report a 2-day-old girl with CGGM who presented with severe hypernatremic dehydration due to diarrhea beginning in the first hours of life. Mutation analysis revealed a novel homozygous mutation NM_000343.3 c.127G > A (p.Gly43Arg) in the SLC5A1 gene. Since CGGM can cause fatal diarrhea in the early neonatal period, timely diagnosis of the disease seems to be essential.

Papillon-Lefevre Syndrome: Challenge for Periodontal Management

2019 ◽  
Vol 3 (2) ◽  
pp. 84-86
Author(s):  
Krishna Prasad Lamichhane ◽  
Shaili Pradhan ◽  
Ranjita Shreshta Gorkhali ◽  
Pramod Kumar Koirala
Keyword(s):  
Significant Role ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Genetic Mutations ◽  
Rare Autosomal Recessive Disorder ◽  
Diagnosis And Management ◽  
Periodontal Destruction ◽  
Palmoplantar Keratosis

Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder associated with rapidly progressing periodontitis leading to premature loss of deciduous and permanent dentition and diffuse palmoplantar keratosis. Immunologic alterations, genetic mutations, and role of bacteria are some aetiologic factors. Patients present with early periodontal destruction, so periodontists play a significant role in diagnosis and management. This paper reports a case of Papillon- Lefevre syndrome with its clinical manifestations and challenges for periodontal management which was diagnosed in dental department.

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