Increased risk of symptomatic gallbladder disease in adults with Down syndrome
ABSTRACT Previous reports have documented an increased prevalence of asymptomatic cholelithiasis among children with Down syndrome. Whether this predisposes adults with Down syndrome to symptomatic gallbladder disease has not been studied. A case control study compared the rate of symptomatic gallbladder disease in 28 index cases of adults with Down syndrome and that of sex-matched controls. The rate of gallbladder disease was 25% among the Down syndrome group, compared to 4.5% among the control group (P = 0.002). Patients with Down syndrome were also more likely to have a family medical history of gallbladder disease. Utilizing logistic regression analysis, the adjusted relative risk for gallbladder disease among individuals with Down syndrome was 3.52.
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ABSTRACT: Individuals with Down syndrome (DS) have a predisposition to leukaemia and testicular cancer, but data on the incidence of cancers are yet sparse. A cohort of 3,581 persons with DS was identified from a National Registry of Finnish persons with intellectual disability collected between 1978 and 1986 and followed-up for cancer incidence until 2002. Standardised incidence ratios (SIRs) were defined as ratios of observed number of cancer cases to those expected from the national cancer incidence rates, by age and sex. The overall cancer risk was equal to that of the general population, but a significantly high risk of leukaemia (SIR 10.5, CI 95% 6.6-15.8) and testicular cancer (SIR4.8, CI 95% 1.8-10.4) was found.International Journal of Cancer 04/2006; 118(7):1769-72. DOI:10.1002/ijc.21518 · 5.01 Impact Factor
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ABSTRACT: This study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and identified recommendations for assessment and management of gallbladder disease. The incidence of cholelithiasis/cholecystectomy was estimated from data describing 270 and 681 individuals with a pathogenic MECP2 mutation in the Australian Rett Syndrome Database and the International Rett Syndrome Phenotype Database respectively. Gallbladder function in 25 females (mean age 16y 5mo, SD 20y 7mo, range 3y 5mo-47y 10mo) with Rett syndrome (RTT) was evaluated with clinical assessment and ultrasound of the gallbladder. The Delphi technique was used to develop assessment and treatment recommendations. The incidence rate for cholelithiasis and/or cholecystectomy was 2.3 (95% confidence interval [CI] 1.1-4.2) and 1.8 (95% CI 1.0-3.0) per 1000 person-years in the Australian and International Databases respectively. The mean contractility index of the gallbladder for the clinical sample was 46.5% (SD 38.3%), smaller than for healthy individuals but similar to children with Down syndrome, despite no clinical symptoms. After excluding gastroesophageal reflux, gallbladder disease should be considered as a cause of abdominal pain in RTT and cholecystectomy recommended if symptomatic. Gallbladder disease is relatively common in RTT and should be considered in the differential diagnosis of abdominal pain in RTT.Developmental Medicine & Child Neurology 02/2014; 56(8). DOI:10.1111/dmcn.12358 · 3.29 Impact Factor