Alagille syndrome in children
Alagill syndrome is a rare genetic disease with an autosomal dominant type of inheritance, which is characterized by chronic intrahepatic cholestasis due to an abnormality of the biliary tree in combination with multiple malformations. It presents certain difficulties in diagnosing little children,...
| Main Authors: | , , |
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| Format: | Article |
| Language: | Russian |
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Ltd. “The National Academy of Pediatric Science and Innovation”
2020-05-01
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| Series: | Rossijskij Vestnik Perinatologii i Pediatrii |
| Subjects: | |
| Online Access: | https://www.ped-perinatology.ru/jour/article/view/1118 |
| Summary: | Alagill syndrome is a rare genetic disease with an autosomal dominant type of inheritance, which is characterized by chronic intrahepatic cholestasis due to an abnormality of the biliary tree in combination with multiple malformations. It presents certain difficulties in diagnosing little children, when it is necessary to accurately determine the cause of cholestasis and the tactics of further treatment.Objective. To analyze clinical manifestations and laboratory parameters in children with Alagill syndrome.Characteristics of children and research methods. The authors carried out a retrospective continuous analysis of the clinical and diagnostic manifestations of Alagill syndrome in 21 children (10 boys and 11 girls) aged from 1 month to 14 years 5 months (average age 5 years ± 1 year). They studied their history of life and illness, assessed the course of pregnancy, first clinical manifestations of the disease, the results of clinical and diagnostic tests at the beginning of the disease and the analyses conducted at the place of residence and during the first hospitalization. All children underwent ultrasound examination of the abdomen and biochemical blood test.Results. When analyzing clinical and diagnostic criteria of children with Alagille syndrome we found the following diagnostically important criteria: the threat of termination of pregnancy in mothers, fetal hypotrophy, prolonged neonatal period of jaundice, which may further persist and be accompanied by hepato / hepatosplenomegaly (more common for children above 3 months old), hypo-/ acholic stool, which occasionally occur in 3-month-old children, coagulopathy, more characteristic of children under 3 months old, as well as changes in biochemical blood parameters: the cytolytic activity – 2–5 times above the limits, hyperbilirubinemia (with a predominance of direct bilirubin fraction) – 3–7 times above the limits, gamma glutamyl – 2–7 times above the limits.Conclusion. Alagill syndrome should be diagnosed as early as possible to determine further treatment tactics. A detailed history, analysis of clinical and diagnostic manifestations of the disease, especially changes in biochemical blood tests are important for the diagnostics of this disease. |
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| ISSN: | 1027-4065 2500-2228 |