Gitelman Syndrome Provisionally Diagnosed During the First Presentation of Diabetic Ketoacidosis
| Autor: | Donald Baumstein, Mojgan Jalalzadeh, Shobhana Chaudhari, Armeen D. Poor, David Garcia Goncalves de Brito |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Pediatrics
medicine.medical_specialty endocrine system diseases Diabetic ketoacidosis Metabolic alkalosis Disease 030204 cardiovascular system & hematology Hypocalciuria Hypomagnesemia hypomagnesemia 03 medical and health sciences diabetic ketoacidosis 0302 clinical medicine Internal Medicine hypokalemia medicine gitelman syndrome business.industry Endocrinology/Diabetes/Metabolism General Engineering nutritional and metabolic diseases Gitelman syndrome medicine.disease Hypokalemia metabolic alkalosis Nephrology medicine.symptom Presentation (obstetrics) business 030217 neurology & neurosurgery |
| Zdroj: | Cureus |
| ISSN: | 2168-8184 |
| Popis: | Gitelman syndrome (GS) is an autosomal recessive disease characterized by hypokalemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria. It is caused by mutations in gene SLC12A3 (located in chromosome 16q) encoding NaCl cotransporter. GS is usually asymptomatic for several years and is diagnosed in late childhood or adulthood. The association between GS and diabetic ketoacidosis (DKA) is rare. We present a case of a 25-year-old man with newly diagnosed diabetes mellitus and DKA with profound hypokalemia and hypomagnesemia who was provisionally found to have GS. |
| Databáze: | OpenAIRE |
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