Abstract
IXa glycogenosis is the most common of the currently known 15 types of glycogenosis. The disease has X-linked recessive inheritance, is caused by mutations in the PHKA2 gene localized on the short arm of X chromosome in the Хр22.13 region. The main manifestations of the disease: stunted growth, increased liver size, episodes of hypoglycemia, fasting ketosis, increased blood levels of cholesterol, low-density lipoproteins, triglycerides, liver transaminases. In many cases, the course of the disease can be relatively mild, which complicates early diagnosis and the timely administration of therapy. Clinical observations of two children from unrelated families with the same homozygous c.884G> A mutation (р.Arg295His, or R295H) in the PHKA2 gene are presented. The similarities and differences in clinical symptoms are emphasized, and the features of patient management are presented.
Highlights
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University, Ministry of Health of the Russian Federation, Moscow
The disease has X-linked recessive inheritance, is caused by mutations in the PHKA2 gene localized on the short arm of X chromosome in the Хр22.13 region
Где у больных был установлен диагноз гликогеноза типа IХа, рекомендуется поиск идентифицированных мутаций в гене PHKA2 у родных братьев и родственников мужского пола по линии матери в наиболее ранние сроки, а также требуется выявление носительства мутаций у женщин из группы риска
Summary
Ключевые слова: дети, гликогеноз типа IXa, задержка роста, гликемия, кетоз, холестерин, трансаминазы, мутация c.884G>A гена PHKA2, диета, кукурузный крахмал. Гликогеноз типа IXa – диагностика, особенности клинических проявлений и лечения. Гликогеноз типа IXa – диагностика, особенности клинических проявлений и лечения шее количество гликогена содержится в печени, сердечной и скелетных мышцах, почках.
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