A case of a Japanese patient with neonatal diabetes mellitus caused by a novel mutation in the ABCC8 gene and successfully controlled with oral glibenclamide
نویسندگان
چکیده
Ryojun Takeda1, Masaki Takagi1, Kentaro Miyai1, Hiroyuki Shinohara1, Hiroko Yagi2, Maki Moritani3, Ichiro Yokota3, 4, and Yukihiro Hasegawa1, 2 1 Department of Endocrinology and Metabolism, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan 2 Department of Genetic Research, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan 3 Laboratory of Pediatric Genomic Medicine, Department of Clinical Research, Shikoku Medical Center for Children
منابع مشابه
Sulfonylurea treatment in an infant with transient neonatal diabetes mellitus caused by an adenosine triphosphate binding cassette subfamily C member 8 gene mutation
Neonatal diabetes mellitus (NDM) is an insulin-requiring monogenic form of diabetes that generally presents before six months of age. The following two types of NDM are known: transient NDM (TNDM) and permanent NDM (PNDM). Here we report on an infant with TNDM caused by a mutation (p.Gly832Cys) of the gene for the ATP binding cassette subfamily C member 8 (ABCC8). The patient exhibited hypergly...
متن کاملTransient neonatal diabetes mellitus caused by a de novo ABCC8 gene mutation
Transient neonatal diabetes mellitus (TNDM) is a rare form of diabetes mellitus that presents within the first 6 months of life with remission in infancy or early childhood. TNDM is mainly caused by anomalies in the imprinted region on chromosome 6q24; however, recently, mutations in the ABCC8 gene, which encodes sulfonylurea receptor 1 (SUR1), have also been implicated in TNDM. Herein, we pres...
متن کاملClinical and functional characterization of the Pro1198Leu ABCC8 gene mutation associated with permanent neonatal diabetes mellitus
AIMS/INTRODUCTION The adenosine triphosphate (ATP)-sensitive potassium (KATP) channel is a key component of insulin secretion in pancreatic β-cells. Activating mutations in ABCC8 encoding for the sulfonylurea receptor subunit of the KATP channel have been associated with the development of neonatal diabetes mellitus (NDM). The aim was to investigate clinical and functional characterization of t...
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INTRODUCTION Neonatal diabetes (ND) presents below 6 months of age, and is caused by a genetic defect in glucose homeostasis. Molecular genetic diagnosis can identify the exact molecular aetiology and guide clinical management. The objective of this study was to identify ND among children with diabetes in a major children's hospital in Singapore and to characterise their molecular and clinical ...
متن کاملSuccessful sulfonylurea treatment in a patient with permanent neonatal diabetes mellitus with a novel KCNJ11 mutation
Permanent neonatal diabetes mellitus refers to diabetes that occurs before the age of 6 months and persists through life. It is a rare disorder affecting one in 0.2-0.5 million live births. Mutations in the gene KCNJ11, encoding the subunit Kir6.2, and ABCC8, encoding SUR1 of the ATP-sensitive potassium (KATP) channel, are the most common causes of permanent neonatal diabetes mellitus. Sulfonyl...
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