Patient and Family Issues Regarding Genetic Testing for Cystic Fibrosis

2011 ◽  
Vol 29 (1) ◽  
pp. 303-329 ◽  
Author(s):  
Kathleen J. H. Sparbel ◽  
Audrey Tluczek
Keyword(s):  
Cystic Fibrosis ◽  
Autosomal Recessive ◽  
The United States ◽  
National Institutes Of Health ◽  
Electrolyte Imbalance ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Respiratory Involvement ◽  
Family Issues ◽  
Cystic Fibrosis Transmembrane

Cystic fibrosis (CF) is a potentially life-shortening autosomal recessive genetic condition resulting in chronic progressive respiratory involvement, malnutrition, electrolyte imbalance, and male infertility. It is the most common autosomal inherited condition in the White population, and its presence is recorded with varying prevalence across ethnicities. Since the 1989 discovery of the genetic variant F508del, the most common cystic fibrosis transmembrane conductance regulator (CFTR) mutation, more than 1,900 CF mutations have been identifi ed. The 1997 National Institutes of Health (NIH) Consensus Statement on Cystic Fibrosis, along with 2001 and 2005 recommendations from the American College of Obstetricians and Gynecologists (ACOG), provide the basis for population CF carrier screening in the prenatal setting. Recommendations for newborn screening (NBS) for cystic fibrosis were released in 2004, with NBS programs in the United States initiated thereafter.

Cystic fibrosis-associated liver disease

2011 ◽  
Author(s):  
R. Mark Beattie ◽  
Anil Dhawan ◽  
John W.L. Puntis
Keyword(s):  
Cystic Fibrosis ◽  
Liver Disease ◽  
Autosomal Recessive ◽  
Biliary Cirrhosis ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Gene Coding ◽  
Severe Cirrhosis ◽  
Cystic Fibrosis Transmembrane ◽  
Biochemical Abnormalities

Pathophysiology 162Clinical features 162Diagnosis 163Management 164Cystic fibrosis (CF) is an autosomal recessive disease resulting from mutations in the gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) (see Chapter 21). CFTR functions as a transmembrane chloride channel in the apical membrane of most secretory epithelia and the disease thus affects lungs, pancreas, exocrine glands, gut, and liver. In CF-associated liver disease the biliary tract is most commonly involved in a spectrum from asymptomatic to biliary cirrhosis. The liver disease runs from mild and subclinical to severe cirrhosis and portal hypertension. Clinical disease is seen in 4–6% of cases, but there are biochemical abnormalities in 20–50%. At autopsy, fibrosis is present in 20% and steatosis in 50%....

scholarly journals Molecular analysis of CFTR gene mutations among Iraqi cystic fibrosis patients

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Asal Gailan Abdul-Qadir ◽  
Bassam Musa Al-Musawi ◽  
Rabab Farhan Thejeal ◽  
Saad Abdul-Baqi Al-Omar
Keyword(s):  
Cystic Fibrosis ◽  
Molecular Analysis ◽  
Autosomal Recessive ◽  
Gene Mutations ◽  
Regional Studies ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Multisystem Disease ◽  
Polymorphic Variants ◽  
Cystic Fibrosis Transmembrane

Abstract Background Cystic fibrosis (CF) is an autosomal recessive multisystem disease that results from mutation(s) of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. More than 2100 mutations and polymorphisms have been reported in this gene so far. Incidence and genotyping of CF are under-identified in Iraq. This study aims to determine the types and frequencies of certain CFTR mutations among a sample of Iraqi CF patients. Two groups of patients were included: 31 clinically confirmed CF patients in addition to 47 clinically suspected patients of CF. All confirmed patients had typical, moderate-severe clinical presentation and course of the disease. Molecular analysis was performed on the majority of enrolled patients using the CF-stripAssay® kit supplied by ViennaLab diagnostics, GmbH, Austria. Results The mutation-detection rate from the tested 34 mutations in this study was 19.5% and the 8 detected mutations were as follows: 3120+1G>A and W1282X were found in 3 (4.17%) patients each; F508del and R1162X were found in 2 (2.78%) patients each; 3272-26A>G, R347P, I507del, and 2183AA>G were found in 1 (1.38%) patient each. Polymorphic variants of IVS8, namely 5T, 7T, and 9T, were detected in ~ 70%. These results were nearly similar to what was reported in regional countries. Conclusion Cystic fibrosis seems to be not rare as previously thought. 3120+1G>A and W1282X are the two most commonly detected mutations. F508del needs to be included in all future tests, while the I507del mutation was uniquely reported in this study but not in regional studies.

scholarly journals Cutaneous Manifestations of Cystic Fibrosis

2018 ◽  
Vol 3 (1) ◽  
pp. 39-44
Author(s):  
Anca Chiriac ◽  
Laura Trandafir ◽  
Cristian Podoleanu ◽  
Simona Stolnicu
Keyword(s):  
Cystic Fibrosis ◽  
Autosomal Recessive ◽  
Skin Lesions ◽  
Nutritional Deficiencies ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Cutaneous Lesions ◽  
Cutaneous Manifestations ◽  
Cystic Fibrosis Transmembrane

Abstract Cystic fibrosis (CF) is an autosomal recessive affliction triggered by genetic mutations in the cystic fibrosis transmembrane conductance regulator. The lung and pancreas are the most frequently affected organs in cystic fibrosis, cutaneous involvement is undervalued and underdiag-nosed. Skin lesions observed in patients diagnosed with cystic fibrosis are not well known and can create confusions with other dermatological diseases. The diagnosis of cutaneous lesions as signs of cystic fibrosis by pediatricians or dermatologists, despite their overlapping with different nutritional deficiencies, would allow earlier diagnosis and proper treatment and could improve quality of life and outcomes.

scholarly journals Production of CFTR-ΔF508 Rabbits

2021 ◽  
Vol 11 ◽  
Author(s):  
Dongshan Yang ◽  
Xiubin Liang ◽  
Brooke Pallas ◽  
Mark Hoenerhoff ◽  
Zhuoying Ren ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Autosomal Recessive ◽  
Common Mutation ◽  
Transmembrane Conductance Regulator ◽  
Germline Transmission ◽  
Transmembrane Conductance ◽  
Gene Encoding ◽  
Cystic Fibrosis Transmembrane ◽  
Phenylalanine Residue ◽  
F1 Generation

Cystic Fibrosis (CF) is a lethal autosomal recessive disease caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR). The most common mutation is the deletion of phenylalanine residue at position 508 (ΔF508). Here we report the production of CFTR-ΔF508 rabbits by CRISPR/Cas9-mediated gene editing. After microinjection and embryo transfer, 77 kits were born, of which five carried the ΔF508 mutation. To confirm the germline transmission, one male ΔF508 founder was bred with two wild-type females and produced 16 F1 generation kits, of which six are heterozygous ΔF508/WT animals. Our work adds CFTR-ΔF508 rabbits to the toolbox of CF animal models for biomedical research.

scholarly journals Cystic Fibrosis - Related Diabetes

2021 ◽  
Vol 11 (6) ◽  
pp. 42-46
Author(s):  
Marcin Makuch ◽  
Marcelina Makuch
Keyword(s):  
Cystic Fibrosis ◽  
Autosomal Recessive ◽  
Glucose Tolerance Test ◽  
Autosomal Recessive Disease ◽  
Tolerance Test ◽  
Oral Glucose ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Regulator Protein ◽  
Cystic Fibrosis Transmembrane

Cystic fibrosis (CF) is life-shortening autosomal recessive disease, caused by mutations in the cystic fibrosis transmembrane conductance regulator protein. The most common of CF complications is cystic fibrosis-related diabetes (CFRD). The pathophysiology of CFRD is complex. The best test for screening and diagnosis of CFRD is the oral glucose tolerance test (OGTT). Insulin therapy is a treatment of choice in CFDR pharmacotherapy. An inseparable element of CFRD therapy is also physical activity and diet.

Micro-gallbladder: A rare surgical problem

2021 ◽  
pp. 004947552199818
Author(s):  
Uttam Kumar Thakur ◽  
Niladri Mohan Raypattanaik ◽  
Manish Kumar ◽  
Cherring Tandup ◽  
Lileswar Kaman
Keyword(s):  
Cystic Fibrosis ◽  
Laparoscopic Cholecystectomy ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Gallstone Formation ◽  
Definitive Treatment ◽  
Transmembrane Conductance Regulator ◽  
Rare Clinical Entity ◽  
Transmembrane Conductance ◽  
Cystic Fibrosis Transmembrane

Micro-gallbladder is a rare clinical entity and mostly linked with cystic fibrosis (CF), which is an autosomal recessive disease involving a protein Cystic fibrosis transmembrane conductance regulator (CFTR) which regulates secretion and absorption in the pulmonary, reproductive and gastrointestinal systems including the liver. Biliary secretion becomes hyperviscous, leading to cholestasis and partial obstruction of the cystic duct. This causes recurrent cholecystitis and gallstone formation. Ultimately, atrophy of the gallbladder results, thus a ‘micro-gallbladder’ defined as being <2–3 cm in length and 0.5–1.5 cm in width. A shrunken gallbladder from recurrent attacks of gallstone-induced cholecystitis is not typically termed as a micro-gallbladder. Laparoscopic cholecystectomy is definitive treatment for symptomatic micro-gallbladder, even though most cases are managed conservatively without surgery. We report a case of symptomatic micro-gallbladder in a non-CF patient, managed successfully by laparoscopic cholecystectomy.

scholarly journals Lumacaftor and Matrine: Possible Therapeutic Combination to Counteract the Inflammatory Process in Cystic Fibrosis

Biomolecules ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. 422
Author(s):  
Michela Pecoraro ◽  
Silvia Franceschelli ◽  
Maria Pascale
Keyword(s):  
Cystic Fibrosis ◽  
Inflammatory Process ◽  
Chloride Transport ◽  
Electrolyte Imbalance ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Δf508 Cftr ◽  
Cftr Protein ◽  
Cell Cytosol ◽  
Cystic Fibrosis Transmembrane

Cystic fibrosis is a monogenic, autosomal, recessive disease characterized by an alteration of chloride transport caused by mutations in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene. The loss of Phe residue in position 508 (ΔF508-CFTR) causes an incorrect folding of the protein causing its degradation and electrolyte imbalance. CF patients are extremely predisposed to the development of a chronic inflammatory process of the bronchopulmonary system. When the cells of a tissue are damaged, the immune cells are activated and trigger the production of free radicals, provoking an inflammatory process. In addition to routine therapies, today drugs called correctors are available for mutations such as ΔF508-CFTR as well as for others less frequent ones. These active molecules are supposed to facilitate the maturation of the mutant CFTR protein, allowing it to reach the apical membrane of the epithelial cell. Matrine induces ΔF508-CFTR release from the endoplasmic reticulum to cell cytosol and its localization on the cell membrane. We now have evidence that Matrine and Lumacaftor not only restore the transport of mutant CFTR protein, but probably also counteract the inflammatory process by improving the course of the disease.

scholarly journals Sialadenitis in Cystic Fibrosis: Case Report

Doctor Ru ◽  
2020 ◽  
Vol 19 (10) ◽  
pp. 66-68
Author(s):  
S.A. Harutyunyan ◽  
◽  
K.G. Simonyan ◽  
N.M. Mkrtchyan ◽  
N.Yu. Kashirskaya ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Case Report ◽  
Salivary Glands ◽  
Autosomal Recessive ◽  
Final Diagnosis ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Keywords Cystic Fibrosis ◽  
Key Points ◽  
Cystic Fibrosis Transmembrane

ABSTRACT Objective of the Paper: To present a case report of sialadenitis in cystic fibrosis and recommendations to diagnose the condition. Key Points. Cystic fibrosis (CF) is an autosomal recessive genetic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and affects exocrine glands, including salivary glands. The article describes a case report of sialadenitis in cystic fibrosis in a 12-year old boy. Bacterial sialadenitis was diagnosed after a consultation with a maxillo-facial surgeon using lab and ultrasound results. The patient was treated with antimicrobials (amoxicillin potentiated by clavulanat), drotaverine, increased fluid intake. Conclusion. Sialadenitis is one of the comorbidities in cystic fibrosis patients associated with fever, ear pain, salivary glands swelling. In order to make the final diagnosis, a consultation with a maxillo-facial surgeon, infectionist and salivary glands ultrasound are necessary. Keywords: cystic fibrosis, sialadenitis, case report.

scholarly journals The Future of CRISPR: Looking at Gene Editing as a Treatment For Cystic Fibrosis

2021 ◽  
Vol 10 (1) ◽  
Author(s):  
Harisha Kosanam ◽  
Ananya Udyaver ◽  
Waliya Muhammad
Keyword(s):  
Cystic Fibrosis ◽  
Autosomal Recessive ◽  
Gene Editing ◽  
Autosomal Recessive Disease ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Internal Organs ◽  
Cftr Protein ◽  
Cystic Fibrosis Transmembrane ◽  
Cftr Modulators

Cystic Fibrosis (CF) is a genetically inherited chronic disease that causes the production of a thick and sticky mucus primarily in the lungs. The condition tends to become worse over time. Clogged lungs and other internal organs result in breathing issues, susceptibility to infections, digestive problems, and lack of nutrition. CF is an autosomal recessive disease, indicating that an individual must inherit two copies of the defective Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene, which then encodes for a malfunctioning CFTR protein. Because of the large number of CF patients that cannot be treated with these CFTR modulators, using gene editing to directly target the mutation can be more effective and efficient in treating cystic fibrosis. In this paper, we will discuss the promises and limitations for using gene editing as a treatment for CF.

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