Transplantation of a kidney with a heterozygous mutation in the SLC22A12 (URAT1) gene causing renal hypouricemia: a case report.

Tsuji, Kiyokazu; Kitamura, Mineaki; Muta, Kumiko; Mochizuki, Yasushi; Mori, Takayasu; Sohara, Eisei; Uchida, Shinichi; Sakai, Hideki; Mukae, Hiroshi; Nishino, Tomoya

Tsuji, Kiyokazu; Kitamura, Mineaki; Muta, Kumiko; Mochizuki, Yasushi; Mori, Takayasu; Sohara, Eisei; Uchida, Shinichi; Sakai, Hideki; Mukae, Hiroshi; Nishino, Tomoya.

Afiliação

Tsuji K; Department of Nephrology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Kitamura M; Department of Nephrology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan. mkitamura-ngs@umin.ac.jp.
Muta K; Department of Nephrology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Mochizuki Y; Department of Urology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Mori T; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
Sohara E; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
Uchida S; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
Sakai H; Department of Urology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Mukae H; Department of Respiratory Medicine, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Nishino T; Department of Nephrology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

BMC Nephrol ; 21(1): 282, 2020 07 16.

Article em En | MEDLINE | ID: mdl-32677916

Assuntos

Transplante de Rim; Túbulos Renais/metabolismo; Doadores Vivos; Transportadores de Ânions Orgânicos/genética; Proteínas de Transporte de Cátions Orgânicos/genética; Erros Inatos do Transporte Tubular Renal/genética; Ácido Úrico/metabolismo; Cálculos Urinários/genética; Adulto; Quimerismo; Feminino; Heterozigoto; Sequenciamento de Nucleotídeos em Larga Escala; Humanos; Masculino; Mutação de Sentido Incorreto; Eliminação Renal/genética; Erros Inatos do Transporte Tubular Renal/metabolismo; Irmãos; Cálculos Urinários/metabolismo

Palavras-chave

Chimerism; Fluorescence in situ hybridization; Renal allografts; Renal hypouricemia; SLC22A12

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Erros Inatos do Transporte Tubular Renal / Ácido Úrico / Cálculos Urinários / Transplante de Rim / Doadores Vivos / Transportadores de Ânions Orgânicos / Proteínas de Transporte de Cátions Orgânicos / Túbulos Renais Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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