1. An Unusual Presentation of Diabetic Ketoacidosis in Familial Hajdu-Cheney Syndrome: A Case Report
- Author
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Yoon Sok Chung, So-Yeon An, Seon-Yong Jeong, Young Bae Sohn, and Gil Ho Lee
- Subjects
Adult ,Male ,medicine.medical_specialty ,Pediatrics ,Hajdu–Cheney syndrome ,Diabetic ketoacidosis ,endocrine system diseases ,Craniofacial abnormality ,medicine.medical_treatment ,Osteoporosis ,Case Report ,Ketone Bodies ,Gene mutation ,Hajdu-Cheney Syndrome ,Diabetic Ketoacidosis ,Craniofacial Abnormalities ,Young Adult ,Bone Density ,Glycosuria ,Internal medicine ,medicine ,Humans ,Receptor, Notch2 ,Type 1 diabetes ,business.industry ,Insulin ,General Medicine ,medicine.disease ,Radiography ,Endocrinology ,Diabetes Mellitus, Type 1 ,Mutation ,Ketone bodies ,Endocrinology, Nutrition & Metabolism ,business - Abstract
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.
- Published
- 2013