Младенческая форма болезни Помпе: клиника, диагностика и лечение

Pompe disease is a rare inherited disease that belongs to lysosomal accumulation diseases and can be considered as cardiac glycogenosistype II, as well as a severe neuromuscular disease or metabolic myopathy. Physicians of different specialties very rarely identify this pathology, which is due to both its rarity and clinical and genetic polymorphism. Infantile Pompe disease is the severest form. It is characterized by a progressive pattern and a fatal outcome during the first year of life. The possibility of performing enzyme replacement therapy for this disease, which can improve the prognosis and quality of life of patients, makes the early diagnosis of Pompe disease urgent. The paper describes the clinical presentation of infantile Pompe disease and current methods for its diagnosis and treatment. The authors give their experience in diagnosing and treating infantile Pompe disease, by demonstrating 3 cases of the disease. The characteristics of each infant, which confirm the clinical and genetic variety of this pathology, are discussed.Болезнь Помпе является редким (орфанным) наследственным заболеванием, которое относится к лизосомным болезням накопления и может рассматриваться как сердечный гликогеноз II типа, а также как тяжелое нервно-мышечное заболевание или метаболическая миопатия. Выявляемость данной патологии среди врачей различного профиля крайне низкая, что обусловлено как редкостью патологии, так и клинико-генетическим полиморфизмом заболевания. Наиболее тяжелая форма болезни Помпе – младенческая (инфантильная). Она характеризуется прогредиентностью течения и летальным исходом в течение первого года жизни. Возможность проведения фермент-заместительной терапии при данном заболевании, позволяющая улучшить прогноз и качество жизни пациентов, определяет актуальность ранней диагностики болезни Помпе. В статье описываются клиника, современные методы диагностики и лечения инфантильной формы болезни Помпе. Представлен собственный опыт диагностики и лечения младенческой формы болезни Помпе на основании демонстрации 3 клинических случаев заболевания. Обсуждаются особенности каждого ребенка, подтверждающие клинико-генетическое разнообразие данной патологии

Клинические рекомендации по оказанию медицинской помощи пациентам с болезнью Помпе

.

NOONAN SYNDROME AS RESULT OF MUTATION p. S257L OF GENE RAF1: CLINICAL CASE AND REVIEW

Noonan syndrome is clinically and genetically heterogenic disease caused by mutations in genes coding the proteins of universal cascade of cellular signalling Ras-MAPK. Recently, about 10 genes known, with mutations leading to the disease development. Among multiple manifestations of the syndrome most clinically and prognostically significant are disorders of cardiovascular system, including hypertrophic cardiomyopathy and pulmonary artery stenosis. In the article, a case is presented of sporadic Noonan syndrome in 5-year old child with left ventricle hypertrophy and obstruction of outgoing flow. Genetic investigation revealed mutation p. S257L of gene RAF1, occurred de novo. Appearance of mutation de novo does not lead to increased risk of the second child birth with same disease by the parents

The pseudo-life-threatening conditions in infants

The article analyzes the literature on the development of views on the definition, approaches to diagnostics and tactical measures in case of suddenly manifesting conditions in children of the first year of life, accompanied by respiratory failure, changes in muscle tone and skin color. The article contains data from the clinical guidelines of theAmericanAcademyof Pediatrics 2016. The above guidelines gave introduced a new term “brief resolved unexplained event” (BRUE) and distinguished two groups of infants – with low and high risk of unfavorable outcome. The article contains a definition of a “life-threatening event”, which refers to events in children of the first year of life who have experienced a rapidly resolved unexplained condition and met the criteria of low risk. The authors describe the approaches to the diagnosis and prevention of pseudo-life-threatening events in infants. The authors call the pediatric community to discuss and present their own view on the problem of definition and tactical measures necessary for identifying quickly resolved unexplained events in children of the first year of life who meet the criteria of low risk

NEONATAL MARFAN SYNDROME: CLINICAL DESCRIPTION AND COMPLEX APPROACH TO DIAGNOSTICS AND TREATMENT

Aim. Molecular-genetic tests for neonatal type of Mrfan syndrome make possible to clarify a dignosis in children with multiple phenotype anomalies and to choose correct treatment strategy.Material and methods. Medical-genetic testing and instrumental diagnostics (echo, Doppler, ECG, chest X-rays) made possible to guess the diagnosis of neonatal Marfan syndrome (MS). Direct DNA-diagnostics of MS for these patients including direct Senger-sequencing of the coding plots and neighbouring introne areas of exones 24-32 gene FBN1 completely proved the diagnosis. Results. First time in Russia in two non-relative families with newborns having multiple phenotype anomalies the diagnosis of MS was set at the first year of life and confirmed by molecular-genetic methods.Conclusion. The results of the study must be introduced into practice at specialized pediatric, cardiological and cardiosurgical centres and departments to estimate the risk of sudden death, choose treatment strategy, prescribe gene-specific therapy

WHAT PEDIATRICIANS SHOULD KNOW ABOUT INFANTILE HEMANGIOMAS

Infantile hemangiomas are the most common vascular lesions newborns and infants have and they are sure to be a socially significant  problem. Despite  the  fact  that  modern research techniques  allow  you  the  problems of  diagnosis  methods, classification, ways of observation and treatment of children with this pathology remain important in foreign and national literature. All this determines the constant interest of researchers to the problem of differential diagnosis, pathogenesis, risk factors and treatment of infants. This article presents current epidemiological data regarding infantile hemangiomas and the problems of the classification, of possible risk factors for their development, the treatment methods of the specialist when confronted with this problem are discussed