Семейная средиземноморская лихорадка-типичное моногенное заболевание с аутосомно-рецессивным типом наследования; обусловлено мутациями в гене MEFV, кодирующем белок пирин. Является сравнительно редкой патологией в практике педиатров и ревматологов Российской Федерации. В статье приводятся современные данные о распространенности заболевания, представлена полная на сегодняшний день клиническая картина аутовоспалительного синдрома, рассматриваются диагностические критерии и методы лечения пациентов с семейной средиземноморской лихорадкой.
Lactose (β-galactosyl-1,4 glucose) is milk sugar, the main disaccharide of human and other mammalian breast milk. Lactase is intestinal disaccharidase that catalyzes the lactose hydrolysis. The lactase gene LCT controls biological function of the enzyme. The age-related genetically determined feature of disaccharide expression, epigenetic factors, and natural selection with persistent tolerance to milk sugar throughout lifetime has divided the human population according to the LCT gene into two phenotypes: lactase persistent and lactase non-persistent. There is conflicting evidence that the latter phenotype is associated with low calcium absorption and the development of osteoporosis. The regular use of fermented probiotic dairy products by individuals with the lactase non-persistence phenotype ensures the accumulation of peak bone mineralization and prevents osteoporosis.
172 newly diagnosed cases of iron deficiency anemia (IDA) in children younger than 1 year who were hospitalized in the Department of Hematology Saint Petersburg Сhildren Hospital No 1 in St Petersburg 2010-2015 were analyzed. Anamnesis peculiarities of IDA and outpatient care of babies, including individual prevention of iron deficiency and ferrotherapy and the causes of identified deviations from the existing patient management recommendations were clarified. Defects of sideropenia prevention found in all examined children. The fundamental error of pediatricians during ferrotherapy were the lack of verification of the nature of anemia, violation of drug dosing iron, lack of monitoring the effectiveness of treatment, failure to comply with the required duration of the courses of therapy. Mistakes made by pediatricians during the prevention, diagnosis and treatment of iron deficiency anemia are primarily a reflection of the deficit of basic knowledge of doctors on this issue. The effectiveness of the prevention of iron deficiency in infants is largely determined by the individual outpatient pediatrician, the level of his training, psychological stability and ability to engage constructively with the parents of patients. Components of success of outpatient management of patients younger than 1 year with iron deficiency are: the presence of a modern background knowledge on the issue, understanding the health and social consequences of iron deficiency for the younger generation and the desire to make a personal contribution to improving the health of children in Russia.
Mucopolysaccharidosis type I (MPS I) is a hereditary metabolic disease that manifests itself in childhood by systemic damage to tissues and organs, a constantly progressive course leading to disability. Diagnosis of mild forms of the disease is particularly difficult due to the absence of specific symptoms. A specific symptom of the mild forms of MPS I (as for other types of MPS) is joint stiffness in children combined with hernia, frequent infections, or valvular defects. Stiffness in MPS I is often interpreted as a manifestation of rheumatological diseases (arthrogriposis, juvenile idiopathic arthritis). The article offers a simple algorithm for diagnosing MPS I, which helps to eliminate the disease using a simple test for determining the activity of an enzyme called alpha-L-iduronidase in a dried blood spot.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.