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Sound normalizer v7.99.71/5/2024 (2009) concluded that the SERPINA1 Z allele is a risk factor for liver disease in CF. The combined analysis of the initial and replication studies by logistic regression showed CF-related liver disease to be associated with the SERPINA1 Z allele ( 107400.0011) (odds ratio = 5.04 95% confidence interval, 2.88-8.83 p = 1.5 x 10(-8)). In the second stage, the 2 genes that were positive from the first stage were tested in an additional 136 patients with CF-related liver disease, enrolled between January 2005 and February 2007, and in 1,088 with no CF-related liver disease. In the first stage, 124 patients with CF and severe liver disease, enrolled between January 1999 and December 2004, and 843 control patients without CF-related liver disease (all assessed at greater than 15 years of age) were studied by genotyping 9 polymorphisms in 5 genes previously studied as modifiers of liver disease in CF. (2009) performed a 2-stage case control study enrolling patients with CF and severe liver disease with portal hypertension from 63 CF centers in the United States as well as 32 in Canada and 18 outside of North America. The authors compared 216 patients homozygous for the delta-F508 mutation ( 602421.0001) and found that 5.4% of those homozygous or compound heterozygous for wildtype mannose-binding lectin had cirrhosis, while 30.8% of those homozygous or compound heterozygous for mutant alleles had cirrhosis (p = 0.008).Īpproximately 3 to 5% of patients with cystic fibrosis develop severe liver disease defined as cirrhosis with portal hypertension. (2001) showed that the presence of cirrhosis in patients with cystic fibrosis is significantly associated with either homozygous or compound heterozygous mutations in the MBL2 gene ( 154545), which encodes mannose-binding lectin (MBL). (1990) described a case of cystic fibrosis complicated by common bile duct stenosis. All patients without liver disease had normal intrahepatic and common-duct excretion of tracer.īilton et al. (1988) found that 96% of patients with cystic fibrosis and evidence of liver disease had biliary tract obstruction, usually a stricture of the distal common bile duct. A different haplotype was associated with the 2 types of families, suggesting that multiple allelism, i.e., different mutations at the same locus, accounts for CF with or without meconium ileus. In 17 of the families an affected child had meconium ileus, and in the other 24 families there was a child without meconium ileus. (1988) determined the haplotype associated with cystic fibrosis in 41 families using 4 DNA probes, all of which are tightly linked to the CF gene. Typical features are recurrent episodes of RLQ pain with palpable mass in the right iliac fossa. It is the consequence of the abnormally viscid mucofeculant material in the terminal ileum and right colon, where the fecal stream is normally liquid. The distal intestinal obstruction syndrome is a 'meconium ileus equivalent' that occurs in adolescents and adults with CF. (1981) showed that sibs tend to show recurrence of meconium ileus as a feature of cystic fibrosis. (1990) described a RFLP DNA marker closely linked to the CF locus which showed an allelic correlation with severity of the disorder: the genotype 2/2 was associated with severe disease the genotype 1/2 was overrepresented in patients with very mild clinical manifestations, including pancreatic insufficiency, absence of meconium ileus, and absence of Pseudomonas colonization.Īllan et al. (1987), have clinical differences in terms of the frequency of meconium ileus, pseudomonas infections, and pancreatic disease ( Woo, 1988). The 2 subgroups defined by the A and C haplotypes of polymorphisms closely linked to the CF locus on chromosome 7, reported by Estivill et al. Manifestations in the family were predominantly pulmonary pancreatic exocrine insufficiency was not a conspicuous feature, especially in the older patients. The daughter was an intensive care nurse, the mother of a normal daughter. Another was her 52-year-old sister, the mother of the affected proposita. One of the presumed homozygotes was a 62-year-old woman. There was 1 instance of mother-daughter involvement, the mother being related to her husband. In an inbred kindred in North Carolina, a mild form of cystic fibrosis was described by Knowles et al. The phenotypic variability in CF was analyzed by Sing et al. The mildest extreme of CF is represented by patients not diagnosed until middle age ( Scully et al., 1977).
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