A5045842706- Genetic and Kidney Cyst Diseases
- Renal Diseases and Glomerulopathies
- Renal and related cancers
- Biomedical Research and Pathophysiology
- Ion Transport and Channel Regulation
- Parathyroid Disorders and Treatments
- Pediatric Urology and Nephrology Studies
- Genetic Syndromes and Imprinting
- Pancreatic function and diabetes
- Systemic Sclerosis and Related Diseases
- Bone health and treatments
- Digestive system and related health
- Celiac Disease Research and Management
- Pancreatic and Hepatic Oncology Research
- Pancreatitis Pathology and Treatment
- Renal function and acid-base balance
- Electrolyte and hormonal disorders
- Biochemical and Molecular Research
- Neonatal Health and Biochemistry
- Magnesium in Health and Disease
- COVID-19 and healthcare impacts
- Alkaline Phosphatase Research Studies
- Amino Acid Enzymes and Metabolism
- Complement system in diseases
- Neurological Complications and Syndromes
Pirogov Russian National Research Medical University
2016-2025
Ministry of Health of the Russian Federation
2025
Gazi University
2021-2022
KU Leuven
2019
University Children's Hospital, Belgrade
2018
Background and objectives Autosomal dominant polycystic kidney disease is the most common inheritable disease, frequently thought to become symptomatic in adulthood. However, patients with autosomal may develop signs or symptoms during childhood, particular hypertension. Although ambulatory BP monitoring preferred method diagnose hypertension pediatrics, data children are limited. Design, setting, participants, & measurements Our retrospective multicenter study was conducted collect...
The article presents a case report of child with combination two ultra rare diseases: nephropathic cystinosis and moya-moya disease. Cystinosis is an autosomal recessive lysosomal storage disorder characterized by accumulation cystine in lysosomes throughout the body. caused mutations CTNS gene that encodes carrier protein cystinosin. lack functional cystinosin causes crystallization within lysosomes, which leads to apoptosis tissue damage all organs. disease renal (Fanconi syndrome...
ABSTRACT Background Small cohort studies have reported high parathyroid hormone (PTH) levels in patients with Bartter syndrome and lower serum phosphate anecdotally been Gitelman syndrome. In this cross-sectional study, we assessed PTH homeostasis a large of salt-losing tubulopathies. Methods Clinical laboratory data 589 were provided by members the European Rare Kidney Diseases Reference Network (ERKNet) Society for Paediatric Nephrology (ESPN). Results A total 285 304 included analysis....
Abstract Background Primary nephrogenic diabetes insipidus (NDI) is a rare disorder and little known about treatment practices long-term outcome. Methods Paediatric adult nephrologists contacted through European professional organizations entered data in an online form. Results Data were collected on 315 patients (22 countries, male 84%, adults 35%). Mutation testing had been performed 270 (86%); pathogenic variants identified 258 (96%). The median (range) age at diagnosis was 0.6 (0.0–60)...
We aimed to develop a tool for predicting HNF1B mutations in children with congenital abnormalities of the kidneys and urinary tract (CAKUT).
Fanconi renotubular syndrome, type 1 (FRTS1; MIM #134600) is an ultrarare autosomal dominant disorder caused by pathogenic variants in the GATM gene, which encodes glycine amidinotransferase that required for regeneration of ATP from ADP cells mitochondria. FRTS1 characterized generalized proximal renal tubular dysfunction, manifesting early life and progressing to ESKD middle adulthood. Only six missense associated with have been reported now.
Sensenbrenner syndrome, also known as cranioectodermal dysplasia, is an ultrarare autosomal recessive heterogeneous ciliopathy caused by pathogenic variants in one of six genes including IFT43, IFT52, IFT122, IFT140, WDR19 and WDR35, all encoding proteins that are part the intraflagellar transport complex A which involved retrograde ciliary transport. syndrome a multiple anomaly with distinctive craniofacial findings (forehead bossing, dolichocephaly), metaphyseal dysplasia (short limbs,...
Early onset of steroid-resistant nephrotic syndrome (SRNS) with extrarenal involvement is a hallmark monogenic SRNS. It remains unclear whether children SRNS had specific histopathological features. The aim the study was to compare characteristics in and non-genetic
For citation: S.V. Papizh, V.M. Kenis, A.N. Tsygin, E.K. Petrosyan, Bochenkov, A.E. Lavrova, T.M. Pervunina, E.V. Rakitskaya, K.S. Kulikova. Resolution by the Expert Council: “Modern approaches to diagnosis and treatment of children with X-linked hypophosphatemic rickets,” dated Dec. 22, 2023. Moscow, Russia. Pediatria n.a. G.N. Speransky. 2024; 103 (2): 129-136. DOI: 10.24110/0031-403X-2024-103-2-129-136.
Abstract Background Cystinosis is an autosomal recessive lysosomal storage disorder characterized by accumulation of cystine in lysosomes throughout the body. caused mutations CTNS gene that encodes carrier protein cystinosin. result either complete absence or reduced transporting function protein. The diagnosis nephropathic cystinosis generally based on measuring leukocyte level, demonstration corneal crystals slit lamp examination and confirmed genetic analysis gene. Case presentation A...
Hypercalcemia is a result of wide range hereditary and acquired conditions encountered by general physicians pediatricians. Calcium participates in several key physiological functions, control blood coagulation, bone calcification. homeostasis tightly regulated the interplay between absorption from small intestine renal tubular reabsorption, remodeling, disposal through gut kidney. These processes are local circulating factors. The two main hormones influencing calcium PTH calcitriol....
THE AIM: to study potential associations of obesity with progression idiopathic steroid-resistant nephrotic syndrome (SRNS) in children. PATIENTS AND METHODS. We performed a retrospective one-center 15-years follow up SRNS course 65 children divided into 2 groups: 1) (n=48); 2) normal weight or overweight (n=17). RESULTS. In patients and we found no clinical predictors unfavorable outcome – arterial hypertension proteinuria also glomerular filtration rate at recent hospitalization. Renal...