Cholelitiasis in Down syndrome: incidence analysis and prevention / Incidência de colecistolitíase em Síndrome de Down; aspectos específicos de diagnóstico: genético, clínico e laboratorial
AUTOR(ES)
Zan Mustacchi
DATA DE PUBLICAÇÃO
1997
RESUMO
The purpose of this study has been the prospective analysis of the Down syndrome population received by the Genetic Department of "Hospital Infantil Darcy Vargas", in the period from 1959 to 1996. The Department has received 2816 Down Syndrome patientsin this period, and this study has selected 518 patients, clinical and cytogenetically diagnosed, which were studied following the specific clinical protocol, in periodical evaluations. The incidence of cholelithiasis was verified and it has been analysed the possible relationships among this disease and parentaI age, contraceptive use and clinical features leading to the discussion of eventual aetiologic mechanisms causing gallstones. It was verified 27 patients affected by Down Syndrome and presenting cholelithiasis in the survey of 518 patients ( 3.28 %) compared to the frequency of 7/10000 in the non Down population ( 0.07% ). The statistical analysis has shown that the distribution of the frequency probabilities have been between 3.6% and 7.7%, These studies have verified that the aetiology of the gallstones in the Down syndrome patients could be related to the hypotonic characteristic of the patients, leading to cholestasis, It is very important the suggestion of routine evaluation for this pathology, related to the eventual aetiologic features.
ASSUNTO(S)
cholelitiasis retardo mental doenças nutricionais e metabólicas metabolic diseases cálculos doenças metabólicas down syndrome mental retardation gall bladder síndrome de down transtornos mentais distúrbios metabólicos vesícula biliar embriopatologia colelitíase
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