First Diagnosis of Gitelman Syndrome During Pregnancy in an Adolescent Female: A Case Report

Gitelman syndrome (GS) is an inherited somatic recessive disorder characterized by hypokalemic metabolic alkalosis, accompanied by hypocalciuria and hypermagnesuria. It usually presents in late childhood or young adults with muscle weakness, tetany, or convulsions. Limited information is available i...

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Bibliographic Details
Published in:Curēus (Palo Alto, CA) CA), 2024-05, Vol.16 (5), p.e59644
Main Authors: Zacharis, Konstantinos, Alexakis, Chalent, Tsapadikou, Vasiliki K, Anagnostaki, Ismini, Charitos, Theodoros
Format: Article
Language:English
Subjects:
Alkalosis
Asymptomatic
Case reports
Child development
Chloride
Electrocardiography
Electrolytes
Females
Hypokalemia
Medical diagnosis
Metabolism
Mutation
Nephrology
Obstetrics/Gynecology
Patients
Pediatrics
Physiology
Potassium
Pregnancy
Sodium
Teenagers
Womens health
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Summary:Gitelman syndrome (GS) is an inherited somatic recessive disorder characterized by hypokalemic metabolic alkalosis, accompanied by hypocalciuria and hypermagnesuria. It usually presents in late childhood or young adults with muscle weakness, tetany, or convulsions. Limited information is available in the literature regarding the proper management of this syndrome during pregnancy, as well as its effects on both the mother and the child. We herein present the case of a 16-year-old primigravida who was admitted to the emergency department with chief complaints of abdominal pain, weakness, and vomiting for the past three days during the 12th week of gestation. Routine blood investigations revealed hypokalemia and hypomagnesemia, and electrocardiography (ECG) showed ST-segment depressions. Further evaluation was performed due to persistent hypokalemia, and metabolic alkalosis, hypocalciuria, and hyperaldosteronism were found. Hence, a clinical diagnosis of GS took place. The pregnancy progressed smoothly without complications; potassium levels remained consistently below normal, requiring supplementation three times during pregnancy. Pregnant women with GS should be reported due to the rarity of cases, aiming to establish a standardized approach for monitoring and management.
ISSN:2168-8184
2168-8184
DOI:10.7759/cureus.59644