Modifier genes in cystic fibrosis-related liver disease
نویسندگان
چکیده
منابع مشابه
Modifier genes and variation in cystic fibrosis
The availability of molecular tools to carry out genotyping has led to a flurry of association studies between specific genes and clinical indices of disease or disease susceptibility. Human studies, for the most part, have a limited number of subjects available, precluding whole genome types of approaches. 'Candidate gene' strategies have consequently become widespread, probably in part due to...
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Cystic Fibrosis is the most common lethal autosomal recessive disorder in the white population, affecting among other organs, the lung, the pancreas and the liver. Whereas Cystic Fibrosis is a monogenic disease, many studies reveal a very complex relationship between genotype and clinical phenotype. Indeed, the broad phenotypic spectrum observed in Cystic Fibrosis is far from being explained by...
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context cystic fibrosis (cf) is the most widespread autosomal recessive genetic disorder that limits life expectation amongst the caucasian population. as the median survival has increased related to early multidisciplinary intervention, other manifestations of cf have emergedespecially for the broad spectrum of hepatobiliary involvement. the present study reviews the existing literature on liv...
متن کاملCystic Fibrosis Liver Disease
Cystic fibrosis (CF) is the most common fatal autosomal recessive disorder in the white population with a frequency of 1 in 2500 live births. Inherited defects in the cystic fibrosis transmembrane conductance regulator (CFTR) gene result in abnormal regulation of salt and water movement across membranes. The overall feature of CF is that secretions are dehydrated due to water deprivation of lum...
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Cystic fibrosis-associated liver disease (CFLD) affects ca. 30% of patients. The CFLD is now considered the third cause of death, after lung disease and transplantation complications, in CF patients. Diagnostics, clinical assessment and treatment of CFLD have become a real challenge since a striking increase of life expectancy in CF patients has recently been observed. There is no elaborated "g...
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ژورنال
عنوان ژورنال: Current Opinion in Gastroenterology
سال: 2019
ISSN: 0267-1379
DOI: 10.1097/mog.0000000000000508