Pilot study of classic galactosemia: Neurodevelopmental impact and other complications urge neonatal screening in Egypt
| Autor: | Naglaa M. Kamal, Sally T. Mostafa El Sorogy, Ghada I.Z. Ali, Wael El Garf, Magd A. Kotb, Inas E.M. Kamel, Christine William Shaker Basanti, Lobna Mansour |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Pediatrics Autoimmune hepatitis Convulsions motor retardation mental retardation Kernicterus microcephaly 03 medical and health sciences 0302 clinical medicine Galactose-1-phosphate uridylyltransferase GALT Internal medicine medicine lcsh:Science (General) ComputingMethodologies_COMPUTERGRAPHICS lcsh:R5-920 Multidisciplinary Classic galactosemia medicine.diagnostic_test business.industry Liver cell Galactosemia Liver cell failure autoimmune hepatitis Hepatology Jaundice medicine.disease 030104 developmental biology Cataract self-mutilation combined immune deficiency Liver biopsy Failure to thrive Original Article medicine.symptom business Liver function tests lcsh:Medicine (General) 030217 neurology & neurosurgery lcsh:Q1-390 |
| Zdroj: | Journal of Advanced Research, Vol 12, Iss, Pp 39-45 (2018) Journal of Advanced Research |
| ISSN: | 2090-1232 |
| Popis: | Graphical abstract Classic galactosemia is caused by deficiency of galactose-1-phosphate uridylyltransferase (GALT). It causes serious morbidity and mortality if left untreated. Screening for galactosemia is not included in Egyptian neonatal screening program. The study aimed to define clinical presentation and complications of galactosemia at Pediatric Hepatology Clinic, Cairo University, Egypt. Thus, the clinical presentation, course and outcome of 37 children with documented galactosemia was studied. Jaundice was the main presentation (67.6%). Other presentations included; convulsions (29.7%), motor retardation (24.3%), mental retardation (5.4%), microcephaly (5.4%), failure to thrive (16.2%), hepatomegaly (62.2%), splenomegaly (35.1%), vomiting (16.2%), diarrhea (8.1%), liver cell failure (10.8%), renal tubular acidosis (5.4%), cataract (5.4%), autoimmune hepatitis (2.7%), self-mutilation (2.7%), combined immune deficiency (2.7%) and kernicterus (2.7%). There was no correlation of residual enzyme activity to severity, clinical presentation, liver function tests, liver biopsy findings or outcome apart from highly significant correlation with repeated chest infections (P = 0.001). Duration to diagnosis and exposure to galactose in diet correlated with liver pathology severity i.e. hepatocyte necrosis (P = 0.003) and cytoskeleton damage (P = 0.003), but not to outcome. Galactosemia should be suspected in any child with liver, neurologic disease and/or immunodeficiency. Its complications are potentially preventable. Early detection is mandatory to prevent serious morbidity and mortality. Initiation of neonatal screening for galactosemia in Egypt is recommended. |
| Databáze: | OpenAIRE |
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