DEND syndrome due to V59A mutation in KCNJ11 gene: unresponsive to sulfonylureas

被引：11

作者：

Itoh, Sachie ^{[2
]}

Matsuoka, Hisafumi ^{[1
]}

Yasuda, Yuki ^{[2
]}

Miyake, Nobuka ^{[2
]}

Suzuki, Keiko ^{[2
]}

Yorifuji, Tohru ^{[3
]}

Sugihara, Shigetaka ^{[2
]}

机构：

[1] Tokyo Womens Med Univ Med Ctr East, Dept Pediat, Arakawa Ku, Tokyo 1168567, Japan

[2] Tokyo Womens Med Univ Med Ctr East, Dept Pediat, Tokyo 1168567, Japan

[3] Osaka City Gen Hosp, Dept Pediat Endocrinol & Metab, Childrens Med Ctr, Osaka, Japan

来源：

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM | 2013年 / 26卷 / 1-2期

关键词：

DEND; K CNJ11; monogenic diabetes; sulfony lureas; V59A; NEONATAL DIABETES-MELLITUS; ACTIVATING MUTATIONS; KIR6.2; THERAPY;

D O I：

10.1515/jpem-2012-0236

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Heterozygous activating mutations of KCNJ11 (Kir6.2) are the most common cause of permanent neonatal diabetes mellitus (NDM), and successful glycemic control has been obtained in several cases with oral sulfonylureas (SU). We have verified a lack of clinical response for both glycemic control and neurological features in an infant with permanent neonatal diabetes mellitus and DEND syndrome due to a V59A mutation in the KCNJ11 gene. Thus, our case reinforces that most cases with DEND syndrome are insensitive to SU.

引用

页码：143 / 146

页数：4

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