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10.1007/s13730-015-0172-3 http://scihub22266oqcxt.onion/10.1007/s13730-015-0172-3 C5413770!5413770 !28509104     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=28509104 &cmd=llinks): Failed to open stream: HTTP request failed! 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Autosomal dominant distal renal tubular acidosis caused by a mutation in the anion exchanger 1 gene in a Japanese family |pdf=|usr=}}{{28509104 }} gab.com Text Autosomal dominant distal renal tubular acidosis caused by a mutation in the anion exchanger 1 gene in a Japanese family JO: CEN Case Rep http://www.kidney.de/pget.php?&tw=1&pmid=28509104 #FOAvip Autosomal dominant distal renal tubular acidosis (dRTA) is a rare disorder caused by a mutation in the AE1 gene encoding the chloride-bicarbonate (Cl(-)/HCO(3)(-)) anion exchanger 1 (AE1). Most patients with this disorder present with clinical symptoms in adulthood and their phenotype is milder than that of those with autosomal recessive dRTA. In this report, we describe a Japanese family with autosomal dominant dRTA in which the mother and her daughter presented with severe symptoms caused by hypokalemia at 2 years of age. The heterozygous AE1 mutation G609R, which is a known causative mutation of dRTA, was identified in both patients. To our knowledge, this is the first report of a Japanese family with autosomal dominant type dRTA caused by an AE1 mutation. We, therefore, propose that alterations of AE1 should be considered causative of autosomal dominant dRTA even if typical symptoms appear during early childhood and the clinical features are severe. Twit Text FOAVip Autosomal dominant distal renal tubular acidosis caused by a mutation in the anion exchanger 1 gene in a Japanese family ????CEN Case Rep http://www.kidney.de/pget.php?&tw=1&pmid=28509104 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28509104 #FOAvip English Wikipedia <ref>{{Cite pmid|28509104 }}</ref> Autosomal dominant distal renal tubular acidosis caused by a mutation in the anion exchanger 1 gene in a Japanese family #MMPMID28509104 Ito N ; Ihara K ; Kamoda T ; Akamine S ; Kamezaki K ; Tsuru N ; Sumazaki R ; Hara T CEN Case Rep 2015[Nov]; 4 (2 ): 218-222 PMID28509104 show ga Autosomal dominant distal renal tubular acidosis (dRTA) is a rare disorder caused by a mutation in the AE1 gene encoding the chloride-bicarbonate (Cl(-)/HCO(3)(-)) anion exchanger 1 (AE1). Most patients with this disorder present with clinical symptoms in adulthood and their phenotype is milder than that of those with autosomal recessive dRTA. In this report, we describe a Japanese family with autosomal dominant dRTA in which the mother and her daughter presented with severe symptoms caused by hypokalemia at 2 years of age. The heterozygous AE1 mutation G609R, which is a known causative mutation of dRTA, was identified in both patients. To our knowledge, this is the first report of a Japanese family with autosomal dominant type dRTA caused by an AE1 mutation. We, therefore, propose that alterations of AE1 should be considered causative of autosomal dominant dRTA even if typical symptoms appear during early childhood and the clinical features are severe. äAutosomal dominant distal renal tubular acidosis caused by a mutation (epmc).pdf DeepDyve Pubget Overpricing