alexa L225P Mutation of ABCC8 Gene: A Case of Transient Neona
ISSN: 2161-0665

Pediatrics & Therapeutics
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Case Report

L225P Mutation of ABCC8 Gene: A Case of Transient Neonatal Diabetes Mellitus with Thrombophilic Predisposition and Epilepsy

Francesca Silvestri1*, Giulia Maiella2, Raffaella Scrocca1 and Francesco Costantino1

1Department of Pediatrics, Sapienza University of Rome, Italy

2Department of Pediatrics, Bambino Gesù Children’s Hospital, Italy

*Corresponding Author:
Francesca Silvestri
Department of Pediatrics
Ospedale Policlinico Umberto I
Sapienza University of Rome
Viale Regina Elena 324
Roma 00100, Italy
Tel: 393489036980
E-mail: [email protected]

Received Date: December 21, 2015 Accepted Date: January 18, 2016 Published Date: January 20, 2016

Citation: Silvestri F, Maiella G, Scrocca R, Costantino F (2016) L225P Mutation of ABCC8 Gene: A Case of Transient Neonatal Diabetes Mellitus with Thrombophilic Predisposition and Epilepsy. Pediatr Ther 6:274. doi:10.4172/2161-0665.1000274

Copyright: © 2016 Silvestri F, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.



Neonatal diabetes mellitus (NDM) is defined as a rare disorder of glucose metabolism in the first six months of life, transient (TNDM) or permanent (PNDM). TNDM usually resolves by 18 months, though it might relapse later in life; PNDM requires lifelong therapy with insulin or/and sulfonylurea. Etiology of NDM is monogenic and genetically heterogeneous. TNDM is often caused by an over-expression of paternal genes on chromosome 6 or by mutation in KCNJ11. Either way the release of insulin is reduced. PNDM is mostly associated with two genes, KCNJ11and ABCC8, which encode, respectively, Kir 6.2 and SUR1, subunits of beta cells K-ATP channel. K-ATP channel is constitutively open, hyperglycemia increases the intracellular ATP levels that cause the closure of K-ATP channel and the depolarization of beta cell causing release of insulin. Inactivating mutations in Kir 6.2 or SUR1, K-ATP channel remains open leading to impaired insulin secretion and neonatal diabetes. Here, we report a case of a three months old baby with diagnosis of NDM and thrombophilic predisposition, referred to emergency pediatric department because of intercurrent ipsilateral clonus to the upper and lower right limbs from a few days, successor seizures during the recovery and incidental finding of hyperglycemia. Child was initially treated with insulin, subsequently was started therapy with glybenclamide for 13 months with progressive decal age. The child was also successfully weaned by treatment with sulfonylureas and epilepsy was well controlled with Phenobarbital.


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