A5085077825- Dermatological and Skeletal Disorders
- Erythropoietin and Anemia Treatment
- Connective tissue disorders research
- Vitamin D Research Studies
- Blood groups and transfusion
- Complement system in diseases
- Parathyroid Disorders and Treatments
- Bone health and osteoporosis research
- Alkaline Phosphatase Research Studies
Saint Petersburg State Pediatric Medical University
2023-2024
This article presents the features of atypical haemolytic-uremic syndrome (ORPHA 544472) in children. Atypical (aHUS) is defined by a triad: haemolytic anaemia, thrombocytopenia and acute kidney injury pediatric adult patients. The OMIM catalogue phenotypic series aHUS with mutations C3, CFB, CFH, CFHR1, CFHR3, DGKE, MCP, THBD genes. often associated gene proteins activators that regulate complement. We report case girl who had manifestation at 8 years 5 months age severe relapse 10 age. was...
The article presents current literature data on clinical phenotypes and variants of ALPL gene mutations, the effectiveness enzyme replacement therapy with asfotase alfa in children hypophosphatasia (HPP). HPP is inherited disease ORPHA (436). OMIM catalog contains forms HPP: perinatal (lethal), infantile; childhood; adults; odontohypophosphatasia. M.E. Nunes (2023) considers 7 HPP, taking into account age severity manifestation. As a result worldwide molecular genetic studies, fundamental...
The literature review presents current concepts of the pathogenesis, features phenotype, course, and prognosis orphan disease — generalized arterial calcification infancy, type 1 due to mutation ENPP1 gene 2 in ABCC6 gene. published results clinical observations confirmed effectiveness bisphosphonate therapy pediatric patients with infancy 2. enzyme replacement recombinant ENPP1, which can prevent intima proliferation, reduce hypertension mortality an experiment on mouse models deficiency,...