Journal Mobile Options
Table of Contents
Vol. 79, No. 4, 2013
Issue release date: May 2013
Section title: Original Paper
Horm Res Paediatr 2013;79:236-242
(DOI:10.1159/000350827)

Genetic Analysis of Italian Patients with Congenital Hyperinsulinism of Infancy

Sogno Valin P. · Proverbio M.C. · Diceglie C. · Gessi A. · di Candia S. · Mariani B. · Zamproni I. · Mangano E. · Asselta R. · Battaglia C. · Caruso-Nicoletti M. · Mora S. · Salvatoni A.
aDepartment of Pediatrics, San Raffaele Scientific Institute, Milan, bDipartimento di Fisiopatologia e dei Trapianti (DePT), Università degli Studi di Milano, Milan, cLaboratory of Pediatric Endocrinology, Division of Metabolic and Cardiovascular Sciences, San Raffaele Scientific Institute, Milan, dScuola di Dottorato di Medicina Molecolare, Università degli Studi di Milano, Milan, eInstitute of Biomedical Technology (ITB), CNR, Segrate and fDipartimento di Biotecnologie Mediche e Medicina Traslazionale (BIOMETRA), Università degli Studi di Milano, Milan, gDepartment of Clinical and Experimental Medicine, Pediatric Unit, Insubria University, Varese, and hDipartimento di Scienze Mediche e Pediatriche, Università di Catania, Catania, Italy

Do you have an account?

Register and profit from personalized services (MyKarger) Login Information

Please create your User ID & Password





Contact Information









I have read the Karger Terms and Conditions and agree.

Register and profit from personalized services (MyKarger) Login Information

Please create your User ID & Password





Contact Information









I have read the Karger Terms and Conditions and agree.

To view the fulltext, please log in

To view the pdf, please log in

Buy

  • FullText & PDF
  • Unlimited re-access via MyKarger (new!)
  • Unrestricted printing, no saving restrictions for personal use
  • Reduced rates with a PPV account
read more

Direct: USD 38.00
Account: USD 26.50

Select

Rent/Cloud

  • Rent for 48h to view
  • Buy Cloud Access for unlimited viewing via different devices
  • Synchronizing in the ReadCube Cloud
  • Printing and saving restrictions apply

Rental: USD 8.50
Cloud: USD 20.00

Select

Subscribe

  • Automatic perpetual access to all articles of the subscribed year(s)
  • Unlimited re-access via Subscriber Login or MyKarger
  • Unrestricted printing, no saving restrictions for personal use
read more

Subcription rates


Select


Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: 11/30/2012 2:32:43 PM
Accepted: 3/13/2013
Published online: 5/2/2013

Number of Print Pages: 7
Number of Figures: 1
Number of Tables: 1

ISSN: 1663-2818 (Print)
eISSN: 1663-2826 (Online)

For additional information: http://www.karger.com/HRP

Abstract

Background/Aims: Congenital hyperinsulinism of infancy is a rare disease that needs prompt treatment to avoid brain damage. There are currently no data regarding the clinical and molecular features of Italian patients. Methods: Thirty-three patients with HI and their parents were included. Consanguinity was reported in six patients. Half of patients were macrosomic at birth. None had raised 3-hydroxybutyrylcarnitine or hyperammonemia. Molecular analysis of ABCC8 and KCNJ11 genes was performed in all patients, and subjects with no mutation underwent analysis of HNF4A and GCK. GLUD1 and HADH genes were analyzed in a patient with leucine sensitivity. Results: Mutations in the ABCC8 and KCNJ11 genes were found in 45% of the patients (6 novel). No mutations in HNF4A, GLUD1 and GCK genes were found. Recessive mode of inheritance was found in 21% of patients. A single heterozygous mutation was identified in 24% of probands. 72% of the patients were responsive to medical treatment, and 44% of the 17 patients with no identified mutation achieved spontaneous remission. Nine children, unresponsive to medical therapy, underwent pancreatectomy. Conclusion: This is the first report on hyperinsulinism of infancy in Italy, confirming the complexity of the clinical forms and the heterogeneity of the genetic causes of the disease.


  

Author Contacts

Stefano Mora, MD
Laboratory of Pediatric Endocrinology
San Raffaele Scientific Institute, Via Olgettina 60
IT-20132 Milano (Italy)
E-Mail mora.stefano@hsr.it

  

Article Information

P. Sogno Valin and M.C. Proverbio contributed equally to this work.

Received: November 30, 2012
Accepted: March 13, 2013
Published online: May 1, 2013
Number of Print Pages : 7
Number of Figures : 1, Number of Tables : 1, Number of References : 26

  

Publication Details

Hormone Research in Paediatrics (From Developmental Endocrinology to Clinical Research)

Vol. 79, No. 4, Year 2013 (Cover Date: May 2013)

Journal Editor: Czernichow P. (Paris)
ISSN: 1663-2818 (Print), eISSN: 1663-2826 (Online)

For additional information: http://www.karger.com/HRP


Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: 11/30/2012 2:32:43 PM
Accepted: 3/13/2013
Published online: 5/2/2013

Number of Print Pages: 7
Number of Figures: 1
Number of Tables: 1

ISSN: 1663-2818 (Print)
eISSN: 1663-2826 (Online)

For additional information: http://www.karger.com/HRP


Copyright / Drug Dosage

Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher or, in the case of photocopying, direct payment of a specified fee to the Copyright Clearance Center.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in goverment regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.