Diagnostic value of anti-GP2 antibodies determined in serum and coprofiltrates in children with inflammatory bowel disease

Inflammatory bowel diseases (IBD), such  as Crohn’s disease (CD) and  ulcerative colitis (UC), are characterized by chronically recurring inflammation of intestinal wall and are associated with a significant decrease in the  quality  of life. A spectrum of genetic  variants  associated with  Crohn’s disease  is described. Intestinal dysbiosis (DB)  may be the triggering factor of the disease. Glycoprotein 2 (GP2), the main protein of pancreatic zymogen  granules, is secreted  into the intestines with digestive enzymes.  Anti-GP2 antibodies were found in the serum of patients with CD.  The aim of the present  study was to investigate  the levels of anti-GP2 antibodies in serum  and feces of children with IBD  compared with the DB group.  Serums  and coprofiltrates from 110 children (64 boys and 46 girls) at the age of 12.3 (2.6-17.9) years were studied; 36 patients with CD, 30 patients with UC.  A comparison group consisted of 44 patients with DB. IgG and IgA antibodies against GP2 were tested with ELISA. Nonparametric statistics methods are applied, the results are presented as percentages and medians (Me (Q0.25-Q0.75)). The serum levels of anti-GP2 IgA antibodies were 9.97 (3.35-13.45) U/ml for the CD patients, 6.08 (2.71-14.26) U/ml for UC and 2. 94 (2.29-6.41) U/ml for DB. The levels of anti-GP2 IgG antibodies in serum were 6.16 (3.26-18.4) U/ml for CD, 5.26 (2.97-7.52) U/ml for UC, and for DB 5.23 (2.53-8.85) U/ml. The cut-off  threshold concentration for anti-GP2 IgG antibodies was 13.8 U/ml, with sensitivity of 63.2%, specificity 100%, and for IgA 5.63 U/ml, with sensitivity of 60.5% and specificity of 78.8%, thus being lower than the calculated cut-off  for adults (20 U/ml). The levels of anti-GP2 IgG in coprofiltrates in children of comparison group  were 1.99 (1.26-3.04) U/ml; in the  patients with CD, 23.5 (16.15-29.3) U/ml, and  in children with UC, 20.45 (13.63-25.5) units/ml (p < 0.001). The cut-off  value amounted 8.0 U/ml, with 100% sensitivity  and  100% specificity.  Concentrations of anti-GP2 IgA in coprofiltrates of patients with IBD  did not significantly  differ from DB patients. Moreover, the concentration of sIgA in the coprofiltrates of patients with IBD  was significantly  higher than  their level in DB group. The anti-GP2 IgA/sIgA  ratio was significantly lower in patients with CD (0.326 (0.23-0.512)), and UC (0.327 (0.205-0.435)), than in patients with DB (2.332 (1.575-3.523)) (p < 0.001);  the cut-off  level was 0.784, with a sensitivity of 97.7% and specificity  of 98.6%. It is discussed, whether fecal anti-GP2 IgA antibodies should  be considered as protective, supporting intestinal homeostasis, whereas anti-GP2 IgG antibodies are pathogenetically significant  for development of IBD.  Thus, using a non-invasive method for determining anti-GP2 antibodies in stool, when exceeding the cut-off for IgG, and reduction of IgA/sIgA ratio below the cut-off, one may differentiate IBD from DB with a similar symptoms at the onset of disease, with 100% sensitivity and 100% specificity

Management of Children with Glycogen Storage Disease (Liver Involvement Forms). Best Practice Guidelines

Glycogen storage disease is the hereditary carbohydrate metabolism pathology which is caused by mutations in various genes encoding enzymes responsible for glycogenesis and glycogenolysis. Excessive glycogen deposition in various tissues cells (mostly in liver and muscles) occurs due to enzyme defects. The authors present recent epidemiological data and features of glycogen storage disease etiology and pathogenesis. Clinical characteristics of different types of this disease are also presented. The data on laboratory-instrumental and morphological signs of glycogen storage disease in children, as well as data on its treatment methods is provided in accordance with the developed clinical guidelines. The article provides relevant information on disease types with predominant liver involvement, besides the variety of clinical forms of glycogenosis

Лингвистическая корректность и достоверность содержания русской версии модуля гастроинтестинальных симптомов опросника PedsQL™ для пациентов педиатрического профиля

Background. Health Related Quality of Life (HRQL) is a person’s perception of the effect of a disease on physical, social and psychological functioning and wealth. Questionnaires that help assess the HRQL can give a concept of child’s state, identify arcane issues and they are of great importance for a full understanding of how the state of health affects the child. Universal HRQL tools allow to compare results with general parameters, indicators with specific symptoms better reflect clinically significant moments. The most widespread in the Russian Federation was the general PedsQLTM 4.0 questionnaire, widely used in practice to assess HRQL in children with various pathologies. Objective.The aim of the study is to describe the analysis of linguistic accuracy and authenticity of the content of the Russian version of the module of gastrointestinal symptoms of the PedsQLTM questionnaire, measuring HRQL, in children with gastrointestinal disorders (GIDs).Materials and methods. The establishment of linguistic accuracy and authenticity of the content was carried out according to international standards. The process included forward translation, scientific assessment and coordination, reverse translation, verification of the reverse translation and interviews with 17 children aged 5–18 years with symptoms of GIDs and 20 parents of children with symptoms of GIDs aged 2–18 years.Results. The Russian version of PedsQLTM module of gastrointestinal symptoms (report from children 5-18 years old, report from parents for children 2–18 years old) was developed without significant difficulties. Eight questions required discussion after the forward translation, one change was made after the reverse translation, and three changes were made after the study of the symptom’s module by patients and parents.Conclusion. A conceptually equivalent version of the of PedsQLTM module of gastrointestinal symptoms in Russian has been developed for children aged 2–18 years. It allows to improve the assessment of HRQL in children with GIDs in the Russian Federation. To assess authenticity and reliability of the Russian version of the module, it’s recommended to conduct further research using a larger sampleОбоснование. Качество жизни, связанное со здоровьем (КЖСЗ) — это восприятие человеком влияния болезни на физическое, социальное и психологическое функционирование и благосостояние. Опросники, которые помогают оценивать КЖСЗ, могут дать представление о состоянии ребенка, выявить скрытые проблемы и имеют большое значение для полного понимания того, как влияет состояние здоровья на ребенка. Универсальные инструменты исследования КЖСЗ позволяют сравнивать результаты с общими параметрами, показатели со специфичными симптомами лучше отражают клинически значимые моменты. Наибольшую распространенность в Российской Федерации получил общий опросник PedsQL™ 4.0, широко используемый в практике для оценки КЖСЗ у детей с различной патологией.Цель исследования— описать анализ лингвистической корректности и достоверности содержания русской версии модуля гастроинтестинальных симптомов опросника PedsQL™, измеряющих КЖСЗ, у детей с расстройствами желудочно-кишечного тракта (ЖКТ).Материалы и методы. Установление лингвистической корректности и соответствия содержанию проводилось по международным стандартам. Процесс включал в себя прямой перевод, экспертную оценку и согласование, обратный перевод, проверку обратного перевода и интервью с 17 детьми в возрасте 5–18 лет с симптомами заболеваний ЖКТ и 20 родителями детей с симптомами заболеваний ЖКТ в возрасте 2–18 лет.Результаты. Русская версия модуля гастроинтестинальных симптомов PedsQL™ (отчет детей 5–18 лет, отчет родителей для детей 2–18 лет) была разработана без значимых трудностей. Восемь вопросов потребовали обсуждения после прямого перевода, после обратного перевода было внесено одно изменение, а после изучения модуля симптомов пациентами и родителями — три изменения.Заключение. Была разработана концептуально эквивалентная версия модуля симптомов PedsQL™ на русском языке для детей в возрасте 2–18 лет. Она позволяет улучшить оценку КЖСЗ у детей с расстройствами ЖКТ в Российской Федерации. Для оценки достоверности и надежности русскоязычной версии модуля рекомендуется проведение дальнейших исследований с использованием большей выборки

Клинические рекомендации по ведению детей с дефицитом лизосомной кислой липазы

Lysosomal acid lipase deficiency is s a rare hereditary enzymopathy. The article presents epidemiological data and features of etiopathogenesis of two phenotypic forms of lysosomal acid lipase deficiency — Wolman disease and cholesterol ester storage disease. Special attention has been given to the key issues of differential diagnostic search, clinical guidelines based on the principles of evidence-based medicine have been given.Дефицит лизосомной кислой липазы — редкая наследственная ферментопатия. В статье представлены эпидемиологические данные и особенности этиопатогенеза двух фенотипических форм дефицита лизосомной кислой липазы — болезни Вольмана и болезни накопления эфиров холестерина. Подробно описаны клинические характеристики быстропрогрессирующей формы и медленно развивающейся болезни накопления эфиров холестерина. Особое внимание уделено ключевым вопросам дифференциально-диагностического поиска, приведены рекомендации по лечению, основанные на принципах доказательной медицины