Donnai–Barrow syndrome in nephrology practice
| Autor: | M. E. Aksenova, N. M. Zaikova, T. V. Lepaeva, V. V. Dlin |
|---|---|
| Jazyk: | ruština |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty urologic and male genital diseases Gastroenterology fanconi syndrome Pediatrics RJ1-570 03 medical and health sciences 0302 clinical medicine children Internal medicine nephrocalcinosis Intellectual disability medicine Hypercalciuria myopia low molecular weight proteinuria hypercalciuria Proteinuria business.industry Fanconi syndrome Donnai–Barrow syndrome medicine.disease dent-like tubulopathy donnai–barrow syndrome 030104 developmental biology Pediatrics Perinatology and Child Health Endosomal transport Sensorineural hearing loss medicine.symptom Nephrocalcinosis business megalin 030217 neurology & neurosurgery |
| Zdroj: | Rossijskij Vestnik Perinatologii i Pediatrii, Vol 66, Iss 1, Pp 106-112 (2021) |
| ISSN: | 2500-2228 1027-4065 |
| Popis: | Donnai–Barrow syndrome is a multi-system disorder characterized by a variable combination of congenital anomalies, progressive myopia, sensorineural hearing loss, intellectual disability and renal disease. The article describes clinical cases of children with different phenotypes of the syndrome, including different renal disorders. One patient had isolated low-molecular-weight proteinuria, another patient suffered from proteinuria, hypercalciuria, nephrocalcinosis. Disruption of megaline-mediated endocytosis, retrograde endosomal transport of ligands, mitochondrial dysfunction, stress of the endoplasmic reticulum can lead to a different spectrum and various degrees of severity of tubular dysfunction in Donnai-Barrow syndrome. A variety of clinical manifestations of the disease can lead to a low diagnosis of Donnai-Barrow syndrome and inadequate patient management. |
| Databáze: | OpenAIRE |
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