Liver disease associated cystic fibrosis

OBJECTIVE: To investigate the prevalence and treatment rates of low testosterone (T) in men with cystic fibrosis (CF). CF is a genetic disease with highly variable presentation that results from a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Phenotypic manifestations of CF include alterations in function of the lungs, liver, pancreas, and reproductive system. Despite the well-described association between CF and infertility secondary to congenital bilateral absence of the vas deferens (CBAVD), men with CF report further sexual and reproductive health concerns, many of which are often associated with low testosterone...

PURPOSE OF REVIEW: The nutritional landscape in cystic fibrosis has shifted dramatically in the era of CFTR modulator therapy. In this review, we will critically examine the literature on overweight and obesity in CF, current nutritional care unknowns and opportunities for further investigation or adaptation in clinical care. RECENT FINDINGS: Results of clinical trial and real-world data reflect marked improvement in nutritional status and quality of life. Clinical outcomes including CF related diabetes and CF related liver disease appear positively impacted...

Cirrhosis is the end stage of chronic liver disease and causes architectural distortion and perfusional anomalies. It is a major risk factor for developing hepatocellular carcinoma (HCC). Common disease entities in noncirrhotic livers, such as hemangiomas, can be rare in cirrhotic livers, and benign entities such as confluent hepatic fibrosis and focal nodular hyperplasia-like lesions may mimic the appearance of malignancies,. HCC usually has typical imaging characteristics, such as the major features established by the Liver Imaging Reporting and Data System...

Microtubule-Associated Serine/Threonine (MAST) kinases represent an evolutionary conserved branch of the AGC protein kinase superfamily in the kinome. Since the discovery of the founding member, MAST2, in 1993, three additional family members have been identified in mammals and found to be broadly expressed across various tissues, including the brain, heart, lung, liver, intestine and kidney. The study of MAST kinases is highly relevant for unraveling the molecular basis of a wide range of different human diseases, including breast and liver cancer, myeloma, inflammatory bowel disease, cystic fibrosis and various neuronal disorders...

Cystic fibrosis (CF) is widely known as a disease of the lung, even though it is in truth a systemic disease, whose symptoms typically manifest in gastrointestinal dysfunction first. CF ultimately impairs not only the pancreas and intestine but also the lungs, gonads, liver, kidneys, bones, and the cardiovascular system. It is caused by one of several mutations in the gene of the epithelial ion channel protein CFTR. Intense research and improved antimicrobial treatments during the past eight decades have steadily increased the predicted life expectancy of a person with CF (pwCF) from a few weeks to over 50 years...

Odoribacter (O.) splanchnicus is an anaerobic member of the human intestinal microbiota. Its decrease in abundance has been associated with inflammatory bowel disease (IBD), non-alcoholic fatty liver, and cystic fibrosis. Considering the anti-inflammatory properties of O. splanchnicus and its possible use for IBD, intestinal isolate O. splanchnicus 57 was here formulated for oral colonic release based on a time-dependent strategy. Freeze-drying protocol was determined to ensure O. splanchnicus 57 viability during the process...

Small intestinal bacterial overgrowth (SIBO) is defined as an increase in the bacterial content of the small intestine above normal values. The presence of SIBO is detected in 33.8% of patients with gastroenterological complaints who underwent a breath test, and is significantly associated with smoking, bloating, abdominal pain, and anemia. Proton pump inhibitor therapy is a significant risk factor for SIBO. The risk of SIBO increases with age and does not depend on gender or race. SIBO complicates the course of a number of diseases and may be of pathogenetic significance in the development of their symptoms...

A 16-year-old girl with a genetic diagnosis of cystic fibrosis was referred to us for consideration of lung transplantation. She had been hospitalized repeatedly for pneumonia and pneumothoraxes and her respiratory function had worsened progressively. Although she also had liver cirrhosis, she was considered a candidate for lung transplantation because her liver disease was compensated and only slowly progressive. After bilateral lung transplantation from a brain-dead donor, she developed ascites that was well controlled with diuretics...

Cystic fibrosis (CF) is a progressive multi-organ disease with significant morbidity placing extensive demands on the healthcare system. Little is known about those individuals with CF who continually incur high costs over multiple years. Understanding their characteristics may help inform opportunities to improve management and care, and potentially reduce costs. The purpose of this study was to identify and understand the clinical and demographic attributes of frequent high-costing CF individuals and characterize their healthcare utilization and costs over time...

Fibrosis, or tissue scarring, develops as a pathological deviation from the physiological wound healing response and can occur in various organs such as the heart, lung, liver, kidney, skin, and bone marrow. Organ fibrosis significantly contributes to global morbidity and mortality. A broad spectrum of etiologies can cause fibrosis, including acute and chronic ischemia, hypertension, chronic viral infection (e.g., viral hepatitis), environmental exposure (e.g., pneumoconiosis, alcohol, nutrition, smoking) and genetic diseases (e...

INTRODUCTION: Caroli disease is multifocal segmental dilatation of the large intrahepatic bile ducts that connect to the main duct. It is considered a rare disease with an incidence rate of 1 in 1,000,000 births. There are two types of Caroli: the first type is the simple type, Caroli disease, which includes only cystic dilatation of the intrahepatic bile ducts. The second is called Caroli syndrome, which consists of Caroli disease and congenital hepatic fibrosis and might lead to portal hypertension leading to esophageal varices and splenomegaly...

Cystic fibrosis (CF) is an autosomal recessive disease caused by pathogenic variants in CF transmembrane conductance regulator (CFTR). While CF is the most common hereditary disease in Caucasians, it is rare in East Asia. In the present study, we have examined clinical features and the spectrum of CFTR variants of CF patients in Japan. Clinical data of 132 CF patients were obtained from the national epidemiological survey since 1994 and CF registry. From 2007 to 2022, 46 patients with definite CF were analyzed for CFTR variants...

BACKGROUND AND AIMS: Early identification of risk factors for the development of severe fibrosis in children with cystic fibrosis-related liver disease (CFLD) is crucial as promising therapies emerge. METHODS: This multi-center cohort study of children with a priori defined CFLD from 1999 to 2016, was designed to evaluate the clinical utility of CF-specific characteristics and liver biomarkers assessed years prior to liver biopsy-proven CFLD to predict risk of developing severe fibrosis (F3-4) over time...

UNLABELLED: Caroli disease is a rare congenital pathology caused by mutation of the PKHD1 gene (polycystic kidney and hepatic disease 1), also responsible for autosomal recessive polycystic kidney disease. Characterized by segmental and multifocal dilatation of the large intrahepatic bile ducts, classic disease involves only malformation of the biliary tract. The association with congenital hepatic fibrosis is called Caroli syndrome. We describe the case of an 84-year-old man with Caroli syndrome diagnosed in 1997 by liver biopsy...

BACKGROUND: Cystic fibrosis (CF) transmembrane conductance regulator modulators are a cornerstone of CF treatment. However, many patients develop CF liver disease (CFLD) over time, and previous data indicate a risk for transaminase elevation with modulator use. Elexacaftor/tezacaftor/ivacaftor is a commonly prescribed modulator with broad efficacy among CF genomic profiles. Theoretically, elexacaftor/tezacaftor/ivacaftor drug-induced liver injury could exacerbate and further worsen CFLD, but holding modulators can cause a decline in clinical status...

(1) Background: Cystic echinococcosis is a zoonotic helminth disease that causes severe economic losses. The study aimed to assess the prevalence and viability of cystic echinococcosis in examined camels. In addition, assessing the histological, morphological, oxidative, and antioxidant state related to the cystic echinococcosis infection; (2) Methods: The study was performed on 152 slaughtered dromedary camels between March and September 2022 at El-Basatin abattoir in Cairo Governorate, Egypt; (3) Results: The results revealed that the prevalence of hydatidosis was 21...

BACKGROUND: Novel cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapies (elexacaftor/tezacaftor/ivacaftor-ETI) promise clinically significant and sustained improvements for patients with cystic fibrosis (CF). In this study, we investigated the impact of ETI therapy on liver stiffness and bile acid metabolism in a cohort of children and young adults with CF. METHODS: A prospective observational study (NCT05576324) was conducted from September 2020 to November 2021 enrolling CF patients naive to ETI...

Cystic fibrosis (CF) is an autosomal recessive genetic disease affecting multiple organs. Approximately 30% CF patients develop CF-related liver disease (CFLD), which is the third most common cause of morbidity and mortality of CF. CFLD is progressive, and many of the severe forms eventually need liver transplantation. The mechanistic studies and therapeutic interventions to CFLD are unfortunately very limited. Utilizing the CRISPR/Cas9 technology, we recently generated CF rabbits by introducing mutations to the rabbit CF transmembrane conductance regulator (CFTR) gene...

The cystic fibrosis (CF) transmembrane conductance regulator corrector/potentiator combinations lumacaftor/ivacaftor and elexacaftor/tezacaftor/ivacaftor improve sweat chloride, pulmonary function, and nutrition. Yet it is unclear whether they may also impact the progression of liver fibrosis, which is a substantial source of morbidity and mortality for patients with CF. We conducted a retrospective, single-center analysis of children and adolescents with CF treated with lumacaftor/ivacaftor and/or elexacaftor/tezacaftor/ivacaftor therapy, focusing on alterations in liver function tests and fibrosis indices using previously-established thresholds that corresponded with increased liver elastography...

Cystic fibrosis-associated liver disease is the third leading cause of morbidity and mortality in patients with cystic fibrosis (CF). Liver damage in the course of CF ranges from biochemical abnormalities to full-blown cirrhosis and may involve complicated processes like inflammation, fibrogenesis, remodeling, apoptosis, and cholestasis. Despite robust research in the field of CF, its complex pathogenesis is not fully understood. Because of the unknown pathogenesis, it is difficult to develop a highly sensitive and specific test or technology that is standardized, acceptable, and available at most pediatric institutions...