Article

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. METHOD: 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.
RESULTS: 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. INTERPRETATION: Gallbladder disease
is relatively common in RTT and should be considered in the differential
diagnosis of abdominal pain in RTT.
CI - (c) 2014 Mac Keith Press.

Langue : ANGLAIS