The goal is to discuss the criteria for the early diagnosis of chronic kidney disease (CKD) in children. The article presents data from modern literature on the epidemiology, classification, and criteria for the diagnosis of CKD, own scientific results on clinical and paraclinical characteristics of CKD and regional characteristics of CKD in children of the Orenburg region. Modern approaches to the early diagnosis of CKD in children, the identification of risk factors for the progression of nephropathy and the algorithm for the diagnosis of CKD in childhood, taking into account unfavorable regional factors, are scientifically substantiated. A set of measures for the prevention of nephropathy and a scheme of follow-up observation of children at high risk has been developed. The ways to improve the children's nephrology service are substantiated. Modern pathogenetic approaches to the diagnosis of CKD in children are presented. An algorithm for diagnosing the initial stages of CKD in children at risk for CKD and children with renal pathology without CKD with a preliminary selection of anamnestic and clinical and paraclinical indicators is proposed.
The purpose of the work is to determine the clinical and pathogenetic markers of secondary kidney damage in endocrine diseases in children to optimize the diagnosis of secondary nephropathies. Materials and methods. We examined 120 children with endocrinopathies aged 3 to 17 years: with secondary kidney damage in type 1 diabetes mellitus (25), exogenous constitutional obesity (20), autoimmune thyroiditis (15) and 60 children with endocrine diseases without kidney damage. All children underwent a clinical and paraclinical examination with an assessment of the endocrine and nephrological status: determination of the parameters of the lipid spectrum, glycemic profile, indicators of daily monitoring of blood pressure and the functional state of the kidneys. Results. Structural and functional parameters of the kidneys in patients with secondary nephropathies in endocrine diseases are characterized by: impaired echographic parameters of the kidneys and a decrease in intrarenal hemodynamics; increased blood pressure and hyperfiltration increased albuminuria/proteinuria in combination with dyslipidemia (increased low-density lipoprotein cholesterol, triacylglycerides, decreased high-density lipoprotein cholesterol), impaired carbohydrate metabolism (increased glycated haemoglobin levels, impaired glucose tolerance). Conclusion. The optimization of the diagnosis of secondary nephropathies in endocrine diseases in children is discussed based on the determination of a complex of clinical and pathogenetic factors that affect the formation of kidney pathology in children with endocrine diseases.
Typical hemolytic-uremic syndrome (tGUS) is an acute disease in which non-immune microangiopathic hemolytic anemia, thrombocytopenia and acute renal damage develop against the background of infection-related diarrhea in the prodromal period. Hemolytic-uremic syndrome is the main cause of acute kidney injury in children under 5 years of age. Hemolytic-uremic syndrome is one of the causes of the progression of renal dysfunction in children with the formation of chronic kidney disease. The clinical picture of hemolytic-uremic syndrome is characterized by multi-organ manifestations with symptoms of acute renal damage, damage to the gastrointestinal tract, nervous, cardiovascular, respiratory systems and hemostasis. The article presents the data of modern literature on the epidemiology, etiology, pathogenesis and clinical picture of HUS in children, own scientific results on the clinical and paraclinical characteristics of a typical hemolytic-uremic syndrome in children of the Orenburg region.
Гипофосфатазия – редкое наследственное заболевание, характеризующееся весьма разнообразными клиническими проявлениями, что может затруднять своевременную постановку диагноза. В связи с дефицитом щелочной фосфатазы у пациентов наблюдаются мультисистемные нарушения. В первую очередь появляются костные изменения (остеопороз, рахитические деформации, переломы), поражение легких (гипоплазия с дыхательной недостаточностью) и центральной нервной системы (судороги), гиперкальциемия с развитием нефрокальциноза. При отсутствии своевременного лечения прогноз болезни в большинстве случаев неблагоприятный для жизни. В статье представлено описание семейного случая гипофосфатазии – у матери и ее ребенка. У ребенка первые клинические симптомы начали проявляться в возрасте 3 лет, диагноз матери установлен в 34 года после генетического подтверждения диагноза у младшего ребенка в результате обследования всей семьи. По результатам ДНК-диагностики (секвенирование по Сэнгеру) у обоих членов семьи выявлен патогенный нуклеотидный вариант с. 595С>Т (chr1:21890656С>Т) в гетерозиготном состоянии в гене ALPL. Однако при проведении молекулярно-генетических исследований у отца и родной сестры пробанда мутаций не выявлено. Клинические проявления были типичными для гипофосфатазии: боли в поясничной области у ребенка, в коленных суставах у матери. Поздняя постановка диагноза привела к несвоевременному назначению заместительной терапии. Заподозрить гипофосфатазию можно на основании сочетания клинических симптомов ззаболевания и характерных изменений по данным рентгенологического исследования. Для проведения дифференциальной диагностики необходимо определение активности щелочной фосфатазы. Описанный случай показал, что проявления гипофосфатазии различны и отличаются в зависимости от возраста манифестации заболевания и тяжести состояния конкретного пациента. После генетической верификации диагноза всем пациентам необходимо назначение современной ферментозаместительной терапии асфотазой альфа, существенно улучшающей прогноз течения заболевания, а также диспансерное наблюдение специалистами различного профиля. Hypophosphatasia is a rare hereditary disease characterized by a very diverse clinical manifestations that can make it difficult to make a timely diagnosis. Due to the deficiency of alkaline phosphatase, multisystem disorders are observed in patients. First of all, these are bone changes (osteoporosis, rickety deformities, fractures), lung damage (hypoplasia with respiratory failure) and central nervous system (seizures), hypercalcemia with the development of nephrocalcinosis. In the absence of timely treatment, the prognosis of the disease in most cases is unfavorable for life. The article describes a family case of hypophosphatasia (GFF) – in a mother and her child. The first clinical symptoms in the child began to manifest at the age of 3 years, the diagnosis of the mother was established at the age of 34 years after the genetic confirmation of the diagnosis in the younger child as a result of examination of the whole family. According to the results of DNA diagnostics (Sanger sequencing), a pathogenic nucleotide variant of C. 595C>T (chr1:21890656C>T) was detected in both family members in a heterozygous state according to the ALPL gene. However, during the molecular genetic studies of Proband's father and sister, no mutations were found. Clinical manifestations were typical for GFF: pain in the lumbar region and in the child, in the knee joints of the mother. The late diagnosis led to the late appointment of substitution therapy. GFF can be suspected based on a combination of clinical symptoms of the disease, characteristic changes according to X-ray examination. For differential diagnosis, it is necessary to determine the activity of alkaline phosphatase. The described case showed that the manifestations of hypophosphatasia are different and differ depending on the age of the manifestation of the disease and the severity of the condition of a particular patient. After genetic verification of the diagnosis, all patients need the appointment of modern enzyme replacement therapy with asphotase alpha, which significantly improves the prognosis of the course of the disease, as well as dispensary observation by specialists of various profiles.
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