Pub Date : 1900-01-01DOI: 10.3165/jjpn.cr.2020.0182
M. Okada, H. Sasaki, Atsuko Koge, Shoko Ohashi, Yoshinori Fujinaka, K. Masunaga, Itsurou Takigawa, A. Hashiguchi, M. Awazu
Atelosteogenesis is a disease caused by mutations of FLNB gene encoding filamin B characterized by severe short-limbed dwarfism. FLNB-related disorders include atelosteognesis type I, Larsen syndrome, spondylocarpotarsal synostosis syndrome, and atelosteogensis type III. We report a case of atelosteogenesis type III who had bladder stone and proteinuria. While there have been no reports of kidney disease in these disorders1)2), filamin is an actin cross-linking protein, which functions as a scaffold for intracellular signaling pathway and protein transporting pathway3). Since filamin is ubiquitously expressed3)4), we speculated that proteinuria could be related to atelosteogensis type III. No renal pathology was detected, however, which led to the diagnosis of postural proteinuria. The bladder stone may also be related to the sitting position of the patient.
{"title":"A case of atelosteogenesis type III with bladder stone and proteinuria","authors":"M. Okada, H. Sasaki, Atsuko Koge, Shoko Ohashi, Yoshinori Fujinaka, K. Masunaga, Itsurou Takigawa, A. Hashiguchi, M. Awazu","doi":"10.3165/jjpn.cr.2020.0182","DOIUrl":"https://doi.org/10.3165/jjpn.cr.2020.0182","url":null,"abstract":"Atelosteogenesis is a disease caused by mutations of FLNB gene encoding filamin B characterized by severe short-limbed dwarfism. FLNB-related disorders include atelosteognesis type I, Larsen syndrome, spondylocarpotarsal synostosis syndrome, and atelosteogensis type III. We report a case of atelosteogenesis type III who had bladder stone and proteinuria. While there have been no reports of kidney disease in these disorders1)2), filamin is an actin cross-linking protein, which functions as a scaffold for intracellular signaling pathway and protein transporting pathway3). Since filamin is ubiquitously expressed3)4), we speculated that proteinuria could be related to atelosteogensis type III. No renal pathology was detected, however, which led to the diagnosis of postural proteinuria. The bladder stone may also be related to the sitting position of the patient.","PeriodicalId":205802,"journal":{"name":"Japanese journal of pediatric nephrology","volume":"22 3 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116340283","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 1900-01-01DOI: 10.3165/jjpn.op.2020.0001
Kazunari Kaneko
{"title":"Encouragement to be a physician scientist","authors":"Kazunari Kaneko","doi":"10.3165/jjpn.op.2020.0001","DOIUrl":"https://doi.org/10.3165/jjpn.op.2020.0001","url":null,"abstract":"","PeriodicalId":205802,"journal":{"name":"Japanese journal of pediatric nephrology","volume":"45 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115520641","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 1900-01-01DOI: 10.3165/jjpn.cr.2021.0193
Y. Fukuchi, M. Kaneko, Takeshi Yamada, Y. Yoshida, Y. Sugawara, Yoichiro Ikeda
{"title":"Early detection of atypical hemolytic uremic syndrome through home urine test: a sibling case report","authors":"Y. Fukuchi, M. Kaneko, Takeshi Yamada, Y. Yoshida, Y. Sugawara, Yoichiro Ikeda","doi":"10.3165/jjpn.cr.2021.0193","DOIUrl":"https://doi.org/10.3165/jjpn.cr.2021.0193","url":null,"abstract":"","PeriodicalId":205802,"journal":{"name":"Japanese journal of pediatric nephrology","volume":"95 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123244763","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 1900-01-01DOI: 10.3165/jjpn.op.2021.0001
M. Fujieda
{"title":"Learning from daily medical treatment","authors":"M. Fujieda","doi":"10.3165/jjpn.op.2021.0001","DOIUrl":"https://doi.org/10.3165/jjpn.op.2021.0001","url":null,"abstract":"","PeriodicalId":205802,"journal":{"name":"Japanese journal of pediatric nephrology","volume":"93 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122449013","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 1900-01-01DOI: 10.3165/jjpn.rv.2021.0004
Naoko Ito
{"title":"Basic understanding of renal pathology required for clinicians","authors":"Naoko Ito","doi":"10.3165/jjpn.rv.2021.0004","DOIUrl":"https://doi.org/10.3165/jjpn.rv.2021.0004","url":null,"abstract":"","PeriodicalId":205802,"journal":{"name":"Japanese journal of pediatric nephrology","volume":"371 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124645772","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 1900-01-01DOI: 10.3165/jjpn.cr.2021.0194
Takuji Yamada, Masayoshi Yoshikane
{"title":"Membranoproliferative-like IgA vasculitis nephritis in children: report of two cases","authors":"Takuji Yamada, Masayoshi Yoshikane","doi":"10.3165/jjpn.cr.2021.0194","DOIUrl":"https://doi.org/10.3165/jjpn.cr.2021.0194","url":null,"abstract":"","PeriodicalId":205802,"journal":{"name":"Japanese journal of pediatric nephrology","volume":"63 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125877006","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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