Metabolic dysfunction-associated liver disease and biliary lithiasis in children with Down Syndrome: a retrospective study
ABSTRACT Objective: To investigate the presence of metabolic dysfunction-associated fatty liver disease (MAFLD) and gallbladder abnormalities in a sample of people with Down syndrome in Brazil. Methods: This is a retrospective study using medical charts involving Down syndrome patients, diagnosed...
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Sociedade de Pediatria de São Paulo
2025-01-01
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| Series: | Revista Paulista de Pediatria |
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| author | Renato Nisihara Nayane Hiba Fuga Liete Maia Marcelo Gasparin Mansur Fernanda Liberatti Maiana Rossasi Nanci Oliveira |
| author_facet | Renato Nisihara Nayane Hiba Fuga Liete Maia Marcelo Gasparin Mansur Fernanda Liberatti Maiana Rossasi Nanci Oliveira |
| author_sort | Renato Nisihara |
| collection | DOAJ |
| description | ABSTRACT Objective: To investigate the presence of metabolic dysfunction-associated fatty liver disease (MAFLD) and gallbladder abnormalities in a sample of people with Down syndrome in Brazil. Methods: This 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. Results: A 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. Conclusions: MAFLD 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. |
| format | Article |
| id | doaj-art-b67d2a89ee674f128a0cf304e841a092 |
| institution | Kabale University |
| issn | 1984-0462 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Sociedade de Pediatria de São Paulo |
| record_format | Article |
| series | Revista Paulista de Pediatria |
| spelling | doaj-art-b67d2a89ee674f128a0cf304e841a0922025-01-21T07:42:04ZengSociedade de Pediatria de São PauloRevista Paulista de Pediatria1984-04622025-01-014310.1590/1984-0462/2025/43/2024130Metabolic dysfunction-associated liver disease and biliary lithiasis in children with Down Syndrome: a retrospective studyRenato Nisiharahttps://orcid.org/0000-0002-1234-8093Nayane Hiba Fugahttps://orcid.org/0000-0003-2309-1462Liete Maiahttps://orcid.org/0000-0002-0619-9933Marcelo Gasparin Mansurhttps://orcid.org/0000-0002-6325-015XFernanda Liberattihttps://orcid.org/0000-0002-5658-4266Maiana Rossasihttps://orcid.org/0000-0001-7887-6211Nanci Oliveirahttps://orcid.org/0000-0002-1352-2006ABSTRACT Objective: To investigate the presence of metabolic dysfunction-associated fatty liver disease (MAFLD) and gallbladder abnormalities in a sample of people with Down syndrome in Brazil. Methods: This 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. Results: A 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. Conclusions: MAFLD 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822025000100421&lng=en&tlng=enDown syndromeLiverSteatosis, Risk factors |
| spellingShingle | Renato Nisihara Nayane Hiba Fuga Liete Maia Marcelo Gasparin Mansur Fernanda Liberatti Maiana Rossasi Nanci Oliveira Metabolic dysfunction-associated liver disease and biliary lithiasis in children with Down Syndrome: a retrospective study Revista Paulista de Pediatria Down syndrome Liver Steatosis, Risk factors |
| title | Metabolic dysfunction-associated liver disease and biliary lithiasis in children with Down Syndrome: a retrospective study |
| title_full | Metabolic dysfunction-associated liver disease and biliary lithiasis in children with Down Syndrome: a retrospective study |
| title_fullStr | Metabolic dysfunction-associated liver disease and biliary lithiasis in children with Down Syndrome: a retrospective study |
| title_full_unstemmed | Metabolic dysfunction-associated liver disease and biliary lithiasis in children with Down Syndrome: a retrospective study |
| title_short | Metabolic dysfunction-associated liver disease and biliary lithiasis in children with Down Syndrome: a retrospective study |
| title_sort | metabolic dysfunction associated liver disease and biliary lithiasis in children with down syndrome a retrospective study |
| topic | Down syndrome Liver Steatosis, Risk factors |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822025000100421&lng=en&tlng=en |
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