Clinical management of diazoxide-unresponsive congenital hyperinsulinism: A single-center experience

被引：0

作者：

Takasawa, Kei ^{[1
]}

Iemura, Ryosei ^{[1
]}

Orimoto, Ryuta ^{[1
]}

Yamano, Haruki ^{[1
]}

Kirino, Shizuka ^{[1
]}

Adachi, Eriko ^{[1
]}

Saito, Yoko ^{[1
,2
]}

Yamamoto, Kurara ^{[3
]}

Matsuda, Nozomi ^{[4
]}

Takishima, Shigeru ^{[4
]}

Shuno, Kumi ^{[5
]}

Tajima, Hanako ^{[5
]}

Sugie, Manabu ^{[1
]}

Mizuno, Yuki ^{[6
]}

Sutani, Akito ^{[7
]}

Okamoto, Kentaro ^{[6
]}

Masue, Michiya ^{[8
]}

Morio, Tomohiro ^{[1
]}

Kashimada, Kenichi ^{[1
]}

机构：

[1] Tokyo Med & Dent Univ, Dept Pediat & Dev Biol, 1-5-45 Yushima,Bunkyo-ku, Tokyo 1138510, Japan

[2] Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Japan

[3] Tokyo Med & Dent Univ, Dept Human Pathol, Tokyo, Japan

[4] Soka Municipal Hosp, Dept Pediat, Saitama, Japan

[5] Nippon Med Sch, Dept Pediat, Tokyo, Japan

[6] Tokyo Med & Dent Univ Hosp, Dept Pediat Surg, Tokyo, Japan

[7] Kawaguchi Municipal Med Ctr, Dept Pediat, Saitama, Japan

[8] Cent Japan Int Med Ctr, Dept Pediat, Gifu, Japan

来源：

CLINICAL PEDIATRIC ENDOCRINOLOGY | 2024年 / 33卷 / 03期

关键词：

congenital hyperinsulinism; lanreotide; continuous glucose monitoring; ABCC8; KCNJ11; LONG-TERM; ABCC8; MUTATIONS; CHILDREN;

D O I：

10.1297/cpe.33.2024-0004

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The most common cause of persistent hypoglycemia in newborns and children is congenital hyperinsulinism (CHI). Remarkable advancements in diagnostic tools and treatments, including novel imaging and genetic techniques, and continuous subcutaneous octreotide administration, have improved the prognosis of diazoxide-unresponsive CHI; however, in clinical practice, some issues remain. Here, we report a case series consisting of four adenosine triphosphate-sensitive potassium-associated CHI cases, discuss the practical use of new international guidelines published in 2023, and suggest clinical issues associated with CHI management. Based on the clinical experience of two diffuse and two focal CHI cases, we employed an updated treatment strategy, including genetic diagnosis to determine treatment plans, careful catheter management, switching from octreotide to long-acting somatostatin, effective utilization of a continuous glucose monitoring (CGM) device, measures for feeding problems, and individualized and systematic developmental follow-up. Particularly, our cases suggest a safe method of switching from octreotide to lanreotide, elucidate the efficacy of home-based CGM monitoring, and indicate need for personalized support for feeding problems. Severe CHI is a rare and challenging disorder; thus, further accumulation of experience according to new treatment strategies is essential in generating high-quality evidence for the development and approval of new treatment options.

引用

页码：187 / 194

页数：8

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