Physical development of a child with Alagille syndrome before and after liver transplantation
Дегтярёва А. В., Болмасова А. В., Филиппова Е. А., Писарева Е. В.
Вопросы практической педиатрии
Т. 13, Вып. 2, С. 64-69
Опубликовано: 2018
Тип ресурса: Статья
DOI:10.20953/1817-7646-2018-2-64-69
Аннотация:
The article presents a clinical case of a patient with genetically confirmed Alagille syndrome (ALGS) with marked delay of physical development that did not correspond to the severity of liver damage. Alagille syndrome (ALGS) is a rare hereditary disease with underlying hypoplasia of the intrahepatic bile ducts manifested by cholestasis syndrome in the first weeks of life. Developmental delay is characteristic for cholestatic diseases of the liver, including ALGS, which is conditioned by impaired absorption of fats and fat-soluble vitamins in the intestines. But growth delay and underweight in this syndrome often do not correlate with the severity of cholestatis syndrome, and causes of their development remain unstudied. Cholestatis syndrome was moderate, and clinical signs of liver cirrhosis were absent. Intense skin itching, greatly disturbing not only the baby's wake period but also sleep, along with marked height and weight deficit were indications for liver transplantation at the
Ключевые слова:
Alagille syndrome; Cholestatis syndrome; Developmental delay; Insulin-like growth factor; Liver transplantation
Язык текста: Русский
ISSN: 2414-9705
Дегтярёва А. В.
Болмасова А. В.
Филиппова Е. А.
Писарева Е. В.
Degtyaryova A. V.
Bolmasova A. V.
Filippova E. A.
Pisareva E. V.
Physical development of a child with Alagille syndrome before and after liver transplantation
Текст визуальный непосредственный
Вопросы практической педиатрии
ООО "Издательство "Династия"
Т. 13, Вып. 2 С. 64-69
2018
Статья
Alagille syndrome Cholestatis syndrome Developmental delay Insulin-like growth factor Liver transplantation
The article presents a clinical case of a patient with genetically confirmed Alagille syndrome (ALGS) with marked delay of physical development that did not correspond to the severity of liver damage. Alagille syndrome (ALGS) is a rare hereditary disease with underlying hypoplasia of the intrahepatic bile ducts manifested by cholestasis syndrome in the first weeks of life. Developmental delay is characteristic for cholestatic diseases of the liver, including ALGS, which is conditioned by impaired absorption of fats and fat-soluble vitamins in the intestines. But growth delay and underweight in this syndrome often do not correlate with the severity of cholestatis syndrome, and causes of their development remain unstudied. Cholestatis syndrome was moderate, and clinical signs of liver cirrhosis were absent. Intense skin itching, greatly disturbing not only the baby's wake period but also sleep, along with marked height and weight deficit were indications for liver transplantation at the