胰岛素受体基因分子缺陷患者的肾小管功能障碍 - Suppr

Renal tubular dysfunction in patients with molecular defects of the insulin receptor gene.

作者信息

Abe Yuki, Watanabe Toru

机构信息

Department of Pediatrics, Niigata City General Hospital, 463-7 Shumoku, Chuo-ku, Niigata, 950-1197, Japan,

出版信息

Eur J Pediatr. 2014 Feb;173(2):263. doi: 10.1007/s00431-013-2154-9. Epub 2013 Aug 28.

DOI:10.1007/s00431-013-2154-9

PMID:23982247

Abstract

摘要

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本文引用的文献

Severe progressive obstructive cardiomyopathy and renal tubular dysfunction in Donohue syndrome with decreased insulin receptor autophosphorylation due to a novel INSR mutation.

Eur J Pediatr. 2013 Aug;172(8):1125-9. doi: 10.1007/s00431-012-1901-7. Epub 2012 Dec 11.

A case of Rabson-Mendenhall syndrome with a novel mutation in the tyrosine kinase domain of the insulin receptor gene complicated by medullary sponge kidney.

J Pediatr Endocrinol Metab. 2012;25(5-6):587-90. doi: 10.1515/jpem-2011-0473.

Activation of PI3-kinase stimulates endocytosis of ROMK via Akt1/SGK1-dependent phosphorylation of WNK1.

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Renal tubular dysfunction in patients with molecular defects of the insulin receptor gene.

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