ArticleRevista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo2025
Metabolic dysfunction-associated liver disease and biliary lithiasis in children with Down Syndrome: a retrospective study.
Article in Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
objectiveTo investigate the presence of metabolic dysfunction-associated fatty liver disease (MAFLD) and gallbladder abnormalities in a sample of people with Down syndrome in Brazil.
methodsThis is a retrospective study using medical charts involving Down syndrome patients, diagnosed by karyotype, aged over 5 years, who underwent abdominal ultrasound and were monitored by the same professional in a clinic in Curitiba, Brazil. Data spanned January 1995 to September 2023; all cases with no use of alcohol or hepatotoxic medications.
resultsA total of 124 patients were evaluated, 64 (51.6%) being females. Ages varied between 5 and 30 years (average of 13.2±5.7 years). Body mass index ranged from 14.08 to 44.98 kg/m2, with 27 (21.7%) patients being overweight and 42 (33.8%) obese. The frequency of increased total cholesterol and triglyceride concentrations was significantly higher in children. No age or sex differences were seen in low- and high-density lipoprotein cholesterol. Alanine transferase (ALT) and aspartate transferase (AST) levels were within normal ranges and showed no differences concerning sex or age. Four patients (3.2%) had diagnosis of MAFLD. The prevalence of gallstone varied widely in terms of the number and size of stones among patients, affecting 11 (8.9%) of them, with no significant difference in age or sex.
conclusionsMAFLD was found in 3.2% of the individuals, while gallstone disease was identified in 8.9% of the cases studied. Moreover, we noted a significant presence of risk factors associated with MAFLD, with dyslipidemia being the predominant factor.
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