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- Title
Mixed diabetic ketoacidosis and hyperglycemic hyperosmolarity in a girl with nephronophthisis 4 presenting with rhabdomyolysis and pancreatitis.
- Authors
Eu-Seon Noh; Chiwoo Kim; Sung Yoon Cho
- Abstract
This article describes a case of a 16-year-old girl with nephronophthisis 4 who presented with a combination of diabetic ketoacidosis (DKA) and hyperglycemic hyperosmolar state (HHS), along with complications such as rhabdomyolysis and pancreatitis. The patient had no medical problems except for obesity and was admitted to the hospital with severe DKA and HHS as the first manifestation of diabetes mellitus. The treatment resulted in a quick recovery from DKA, but the hospital stay was prolonged due to continued pancreatitis and a pressure sore. Genetic testing revealed a mutation in NPHP4, which is associated with nephrolithiasis. This is the first report of mixed DKA and HHS with various complications in a patient with nephrolithiasis 4. The article suggests that genetic testing should be considered in cases where renal function is not consistently restored or there is a family history of chronic renal failure to identify any other underlying causes.
- Subjects
DIABETIC acidosis; PANCREATITIS; SITUS inversus; RHABDOMYOLYSIS; CHRONIC kidney failure
- Publication
Annals of Pediatric Endocrinology & Metabolism, 2023, Vol 28, pS1
- ISSN
2287-1012
- Publication type
Article
- DOI
10.6065/apem.2244286.143