An Unusual Presentation of Diabetic Ketoacidosis in Familial Hajdu-Cheney Syndrome: A Case Report

A 21-year-old man with diabetic ketoacidosis (DKA) displayed short and clubbed fingers and marked eyebrow, which are typical of Hajdu-Cheney Syndrome (HCS). Laboratory findings confirmed type 1 diabetes mellitus (DM). After conservative care with hydration and insulin supply, metabolic impairment wa...

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Autores principales: Lee, Gil-Ho, An, So-Yeon, Sohn, Young Bae, Jeong, Seon-Yong, Chung, Yoon-Sok
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3835515/
https://www.ncbi.nlm.nih.gov/pubmed/24265536
http://dx.doi.org/10.3346/jkms.2013.28.11.1682
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author Lee, Gil-Ho
An, So-Yeon
Sohn, Young Bae
Jeong, Seon-Yong
Chung, Yoon-Sok
author_facet Lee, Gil-Ho
An, So-Yeon
Sohn, Young Bae
Jeong, Seon-Yong
Chung, Yoon-Sok
author_sort Lee, Gil-Ho
collection PubMed
description A 21-year-old man with diabetic ketoacidosis (DKA) displayed short and clubbed fingers and marked eyebrow, which are typical of Hajdu-Cheney Syndrome (HCS). Laboratory findings confirmed type 1 diabetes mellitus (DM). After conservative care with hydration and insulin supply, metabolic impairment was improved. Examinations of bone and metabolism revealed osteoporosis and craniofacial abnormalities. The mutation (c.6443T>G) of the NOTCH2 gene was found. The patient was diagnosed with HCS and DM. There may be a relationship between HCS and DM, with development of pancreatic symptoms related to the NOTCH2 gene mutation.
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spelling pubmed-38355152013-11-21 An Unusual Presentation of Diabetic Ketoacidosis in Familial Hajdu-Cheney Syndrome: A Case Report Lee, Gil-Ho An, So-Yeon Sohn, Young Bae Jeong, Seon-Yong Chung, Yoon-Sok J Korean Med Sci Case Report A 21-year-old man with diabetic ketoacidosis (DKA) displayed short and clubbed fingers and marked eyebrow, which are typical of Hajdu-Cheney Syndrome (HCS). Laboratory findings confirmed type 1 diabetes mellitus (DM). After conservative care with hydration and insulin supply, metabolic impairment was improved. Examinations of bone and metabolism revealed osteoporosis and craniofacial abnormalities. The mutation (c.6443T>G) of the NOTCH2 gene was found. The patient was diagnosed with HCS and DM. There may be a relationship between HCS and DM, with development of pancreatic symptoms related to the NOTCH2 gene mutation. The Korean Academy of Medical Sciences 2013-11 2013-10-31 /pmc/articles/PMC3835515/ /pubmed/24265536 http://dx.doi.org/10.3346/jkms.2013.28.11.1682 Text en © 2013 The Korean Academy of Medical Sciences. http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Lee, Gil-Ho
An, So-Yeon
Sohn, Young Bae
Jeong, Seon-Yong
Chung, Yoon-Sok
An Unusual Presentation of Diabetic Ketoacidosis in Familial Hajdu-Cheney Syndrome: A Case Report
title An Unusual Presentation of Diabetic Ketoacidosis in Familial Hajdu-Cheney Syndrome: A Case Report
title_full An Unusual Presentation of Diabetic Ketoacidosis in Familial Hajdu-Cheney Syndrome: A Case Report
title_fullStr An Unusual Presentation of Diabetic Ketoacidosis in Familial Hajdu-Cheney Syndrome: A Case Report
title_full_unstemmed An Unusual Presentation of Diabetic Ketoacidosis in Familial Hajdu-Cheney Syndrome: A Case Report
title_short An Unusual Presentation of Diabetic Ketoacidosis in Familial Hajdu-Cheney Syndrome: A Case Report
title_sort unusual presentation of diabetic ketoacidosis in familial hajdu-cheney syndrome: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3835515/
https://www.ncbi.nlm.nih.gov/pubmed/24265536
http://dx.doi.org/10.3346/jkms.2013.28.11.1682
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