Rapidly progressive kidney dysfunction and crystal casts associated with adenine phosphoribosyltransferase (APRT) deficiency-lessons for the clinical nephrologist.

Yamazaki, Keita; Miyazawa, Katsuhito; Nida, Yo; Furuichi, Kengo; Yokoyama, Hitoshi

Yamazaki, Keita; Miyazawa, Katsuhito; Nida, Yo; Furuichi, Kengo; Yokoyama, Hitoshi.

Afiliação

Yamazaki K; Department of Nephrology, School of Medicine, Kanazawa Medical University, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa, 920-0293, Japan. zakiyama@kanazawa-med.ac.jp.
Miyazawa K; Department of Urology, Kanazawa Medical University, Uchinada, Kahoku, Ishikawa, Japan.
Nida Y; Center for Clinical Genomics, Kanazawa Medical University Hospital, Uchinada, Kahoku, Ishikawa, Japan.
Furuichi K; Department of Nephrology, School of Medicine, Kanazawa Medical University, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa, 920-0293, Japan.
Yokoyama H; Department of Nephrology, School of Medicine, Kanazawa Medical University, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa, 920-0293, Japan.

J Nephrol ; 34(6): 2147-2149, 2021 Dec.

Article em En | MEDLINE | ID: mdl-33826114

Assuntos

Adenina Fosforribosiltransferase/deficiência; Erros Inatos do Metabolismo; Urolitíase; Adenina Fosforribosiltransferase/genética; Humanos; Rim; Erros Inatos do Metabolismo/diagnóstico; Erros Inatos do Metabolismo/genética; Nefrologistas; Urolitíase/diagnóstico; Urolitíase/genética

Palavras-chave

2,8-Dihydroxyadenine; Novel mutation; Phosphoribosyltransferase (APRT) deficiency; XDH inhibitor

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Adenina Fosforribosiltransferase / Urolitíase / Erros Inatos do Metabolismo Idioma: En Ano de publicação: 2021 Tipo de documento: Article

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