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

共 50 条

[31] Precision Medicine: Long-Term Treatment with Sulfonylureas in Patients with Neonatal Diabetes Due to KCNJ11 Mutations
Letourneau, Lisa R.
Greeley, Siri Atma W.
CURRENT DIABETES REPORTS, 2019, 19 (08)
[32] Precision Medicine: Long-Term Treatment with Sulfonylureas in Patients with Neonatal Diabetes Due to KCNJ11 Mutations
Lisa R. Letourneau
Siri Atma W. Greeley
Current Diabetes Reports, 2019, 19
[33] Transient neonatal diabetes mellitus and activating mutation in the KCNJ11 gene in two siblings
Kamoun, T.
Chabchoub, I.
Ben Ameur, S.
Kmiha, S.
Aloulou, H.
Cave, H.
Polak, M.
Hachicha, M.
ARCHIVES DE PEDIATRIE, 2017, 24 (05): : 453 - 456
[34] Study on the correlation between KCNJ11 gene polymorphism and metabolic syndrome in the elderly
Jiang, Fan
Liu, Ning
Chen, Xiao Zhuang
Han, Kun Yuan
Zhu, Cai Zhong
EXPERIMENTAL AND THERAPEUTIC MEDICINE, 2017, 14 (03) : 2031 - 2035
[35] Response to sirolimus in a case of diffuse congenital hyperinsulinaemic hypoglycaemia due to homozygous KCNJ11 mutation
Oza, Chirantap Markand
Khadilkar, Vaman
Kadam, Sandeep
Khadilkar, Anuradha
BMJ CASE REPORTS, 2022, 15 (11)
[36] Successful sulfonylurea treatment of a neonate with neonatal diabetes mellitus due to a new KCNJ11 mutation
Jesic, Milos M.
Jesic, Maja D.
Maglajlic, Svjetlana
Sajic, Silvija
Necic, Svetislav
DIABETES RESEARCH AND CLINICAL PRACTICE, 2011, 91 (01) : E1 - E3
[37] Recapitulation of neurodevelopmental defects in a patient stem cell derived cerebral organoid model of neonatal diabetes and developmental delay due to the V59M mutation in KCNJ11
Greeley, Siri Atma
Dalgin, Gokhan
Tryba, Andrew
Cohen, Ashley
Philipson, Louis
Garcia, Alfredo
HORMONE RESEARCH IN PAEDIATRICS, 2021, 94 (SUPPL 2): : 136 - 137
[38] A Novel Homozygous Mutation in the KCNJ11 Gene of a Neonate with Congenital Hyperinsulinism and Successful Management with Sirolimus
Unal, Sevim
Gonulal, Deniz
Ucakturk, Ahmet
Bilgin, Betul Siyah
Flanagan, Sarah E.
Gurbuz, Fatih
Tayfun, Meltem
Elmaogullari, Selin
Arasli, Aslihan
Demirel, Fatma
Ellard, Sian
Hussain, Khalid
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2016, 8 (04) : 478 - 481
[39] Variable phenotypic spectrum of diabetes mellitus in a family carrying a novel KCNJ11 gene mutation
D'Amato, E.
Tammaro, P.
Craig, T. J.
Tosi, A.
Giorgetti, R.
Lorini, R.
Ashcroft, F. M.
DIABETIC MEDICINE, 2008, 25 (06) : 651 - 656
[40] Identification of a new mutation in the KCNJ11 gene in a patient affected by severe congenital hyperinsulinism (CHI)
Marthinet, E
Bloc, A
Oka, Y
Tanizawa, Y
Wehrle-Haller, B
Dubuis, JM
Philippe, J
Schwitzgebel, V
DIABETOLOGIA, 2005, 48 : A69 - A70

← 1 2 3 4 5 →