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- W3142486306 abstract "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." @default.
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- W3142486306 date "2021-03-31" @default.
- W3142486306 modified "2023-09-25" @default.
- W3142486306 title "Donnai–Barrow syndrome in nephrology practice" @default.
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- W3142486306 doi "https://doi.org/10.21508/1027-4065-2021-66-1-106-112" @default.
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