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Nephrotic state as a risk factor for developing posterior reversible encephalopathy syndrome in paediatric patients with nephrotic syndrome.
BACKGROUND Posterior reversible encephalopathy syndrome (PRES) is a distinctive and potentially serious complication of the nephrotic syndrome. The objective of the present study is to characterizeExpand
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Posterior reversible encephalopathy syndrome in children: its high prevalence and more extensive imaging findings.
BACKGROUND Posterior reversible encephalopathy syndrome is a distinctive clinicoradiological entity observed in a variety of clinical settings, including pediatric patients. A greater prevalence ofExpand
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Predisposition to relapsing nephrotic syndrome by a nephrin mutation that interferes with assembly of functioning microdomains.
Minimal-change disease (MCD) is the most common cause of nephrotic syndrome (NS) and is characterized only by minor morphological alterations in podocytes. A subtype of MCD arises from mutations inExpand
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H1N1 influenza (swine flu)-associated thrombotic microangiopathy with a markedly high plasma ratio of von Willebrand factor to ADAMTS13.
We describe an 18-year-old woman infected with H1N1 influenza followed by thrombotic microangiopathy. During the acute phase, her plasma levels of von Willebrand factor (VWF) were remarkablyExpand
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A familial childhood-onset relapsing nephrotic syndrome.
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A case of a 7-year-old boy with steroid-dependent nephrotic syndrome who developed severe neutropenia three months after the administration of rituximab
小児の難治性ネフローゼに,リツキシマブが投与され有効であるとの報告が散見される。自験例のステロイド依存性頻回再発型ネフローゼ症候群 (微小変化型) の7歳男児に対し,リツキシマブ (1回375mg/m2) を計4回投与し,有効であった。しかし,投与3ヵ月後に発熱を伴う重篤な無顆粒球症 (好中球0%)Expand
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A comparison of splicing assays to detect an intronic variant of the OCRL gene in Lowe syndrome.
Lowe syndrome is an X-linked inherited disorder diagnosed by congenital cataracts, intellectual impairment, and renal tubular dysfunction. It is caused by pathogenic variants of the oculocerebrorenalExpand
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National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics
Abstract Objectives: Mevalonate kinase deficiency (MKD), a rare autosomal recessive autoinflammatory syndrome, is caused by disease-causing variants of the mevalonate kinase (MVK) gene. A nationalExpand
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