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Ashida, Atsushi; Matsumura, Hideki; Shichiri, Mototada; Nakakura, Hyogo; Yoshikawa, Kunihiko; Mizusawa, Yoichi; Tamai, Hiroshi

doi:10.3165/jjpn.16.109

Nihon Shoni Jinzobyo Gakkai Zasshi

2003

DOI: 10.3165/jjpn.16.109

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Atsushi Ashida¹,

Hideki Matsumura²,

Mototada Shichiri³

et al.

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Cited by 2 publications

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Imai¹,

Harada²,

Takaya³

et al. 2008

Nihon Shoni Jinzobyo Gakkai Zasshi

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Oculo-cerebro-renal syndrome of Lowe (Lowe syndrome), caused by mutation of OCRL1, is a rare, multisystem disorder characterized by bilateral cataracts, mental retardation, hypotonia and renal tubular abnormalities, whereas Dent disease, mainly caused by mutations in the chloride channel gene (CLCN5), is distinguished by exclusive renal tubular dysfunction resulting in low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis and urolithiasis. We encountered a 3 year-old-boy with asymptomatic tubular proteinuria and hypercalciuria. He was initially diagnosed as having Dent disease because there were no clinical and laboratory findings indicating Lowe syndrome, mitochondrial encephalopathy, interstitial nephritis or Fanconi syndrome. However, short stature, mental retardation and cataract, all of which were not observed at first visit, have developed since 6 years of age. Genomic DNA analysis for OCRL1 disclosed nonsense mutation while that for CLCN5 did not. In summary, mutation of OCRL1 should be considered and sought in children having asymptomatic tubular proteinuria who do not demonstrate extra-renal manifestations featuring Lowe syndrome.

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Imai¹,

Harada²,

Takaya³

et al. 2008

Nihon Shoni Jinzobyo Gakkai Zasshi

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第58回日本小児腎臓病学会会長講演—Serendipity一つ一つの出会いを大切に—

Ashida

2024

Nihon Shoni Jinzobyo Gakkai Zasshi

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Considering the reclassification of COVID-19 and gradual recovery of economic activities in society, we hosted the 58th Annual Meeting of the Japanese Society for Pediatric Nephrology as a face-to-face meeting for the first time in a long time since the 54th Annual Meeting. The theme of the meeting was Serendipity-Treasure every encounter . The encounters mentioned here refer not only to encounters with people, including patients (children), teachers, colleagues who provide medical care together, and junior colleagues who follow in one s footsteps, but also to encounters with new knowledge, awareness and research to verify awareness. We believe that these various encounters have been the driving force behind the progress of medicine to date. I would like to look back on the various encounters and experiences I have had as a clinician, express my gratitude and thanks to all the doctors who took care of me, and send messages to young pediatric nephrologists who will lead the next generation.

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Cited by 2 publications

References 10 publications

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第58回日本小児腎臓病学会会長講演—Serendipity一つ一つの出会いを大切に—

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