帝京大学 · 医学部附属溝口病院

研究关键词pediatric nephrology・atypical hemolytic uremic syndrome・Lowe syndrome・PGNMID・urinary extracellular vesicles・CAKUT・HNF1B nephropathy・BOR syndrome

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• Urinary extracellular vesicles signature for diagnosis of kidney disease
• Incomplete cryptic splicing by an intronic mutation of OCRL in patients with partial phenotypes of Lowe syndrome.
• Autoimmune-type atypical hemolytic uremic syndrome treated with eculizumab as first-line therapy.
• A case of Axenfeld-Rieger syndrome with neuroradiological abnormalities.

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