Neonatal Hypoglycaemia due to ABCC8 Gene Mutation
نویسندگان
چکیده
منابع مشابه
Persistent neonatal hypoglycaemia due to glucagon deficiency.
In a newborn baby, suffering from persistent severe hypoglycaemia with convulsions glucagon deficiency was shown. Treatment with zinc-protamine-glucagon injection twice daily resulted in normal blood glucose levels. Motor development is delayed.
متن کاملTransient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation
Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes occurring within 6 months from birth. NDM can be permanent or transient (TNDM). We report the case of a preterm infant with TNDM due to an ABCC8 mutation identified by next-generation sequencing. The pancreatic adenosine triphosphate (ATP)-sensitive K+ (K-ATP) channel is a key regulator of insulin secretion. Gain-of-function mutat...
متن کاملA case of transient neonatal diabetes due to a novel mutation in ABCC8
Masaki Takagi1, 2, Ryojun Takeda3, Hiroko Yagi4, Daisuke Ariyasu5, Ryuji Fukuzawa2, and Tomonobu Hasegawa1 1 Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan 2 Department of Pathology and Laboratory Medicine, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan 3 Department of Medical Genetics, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan 4 Departme...
متن کاملPermanent neonatal diabetes mellitus due to an ABCC8 mutation: a case report.
CONTEXT Neonatal diabetes is a rare disorder with an incidence of about 1 in 100,000 live births. It is defined as diabetes diagnosed in the first 6 months of life and it is vital to differentiate this entity from type 1 diabetes to enable accurate diagnosis, prognosis, genetic counseling and treatment. CASE REPORT We describe a case of permanent neonatal diabetes mellitus due to a novel muta...
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...
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ژورنال
عنوان ژورنال: Indian Journal of Endocrinology and Metabolism
سال: 2020
ISSN: 2230-8210
DOI: 10.4103/ijem.ijem_780_20