Complexities of Bartter Syndrome Type III: A Case Study in Jordan

Bartter Syndrome (BS) is a genetic disorder affecting the renal tubules, leading to elevated levels of renin, angiotensin, and aldosterone, along with metabolic alkalosis, while maintaining normal blood pressure. It is also associated with laboratory abnormalities such as hypocalcemia, hypokalemia, hypomagnesemia, and hyponatremia, which may result in neurological complications including seizures and loss of consciousness. These findings necessitate consideration of important differential diagnoses such as Gitelman syndrome and cystic fibrosis, underscoring the importance of confirming the diagnosis of this serious condition, giving it appropriate attention, and initiating early treatment to prevent advanced complications. We report the case of a 36-year-old Jordanian male with a medical history of Bartter Syndrome and chronic kidney disease, who presented to the emergency department in a coma with generalized seizures due to severe electrolyte imbalances. His condition was further complicated by a genetic predisposition and a family history of Bartter Syndrome, with genetic testing confirming mutations in the CLCNKB gene. This rare case of Bartter Syndrome type III, in which the patient progressed to the stage of hemodialysis, illustrates the complexities of diagnosis and management, and emphasizes the importance of continuous care and regular follow-up.

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Publication Details

Journal
Oxford Medical Case Reports
Published
2025-11-04
DOI
https://doi.org/10.1093/omcr/omaf262
Primary Topic
Ion Transport and Channel Regulation
Type
article
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article

Complexities of Bartter Syndrome Type III: A Case Study in Jordan

Hamdah Hanifa, Basil Alsaleh, Malak Mbarak Al-Refaai, Mohammad Sameeh Alabrash et al.
Oxford Medical Case Reports
Ion Transport and Channel Regulation
article

Complexities of Bartter Syndrome Type III: A Case Study in Jordan

Hamdah Hanifa, Basil Alsaleh, Malak Mbarak Al-Refaai, Mohammad Sameeh Alabrash, Nafeaa M Ganama, Yumna Al-Badareen
article en

Abstract

Bartter Syndrome (BS) is a genetic disorder affecting the renal tubules, leading to elevated levels of renin, angiotensin, and aldosterone, along with metabolic alkalosis, while maintaining normal blood pressure. It is also associated with laboratory abnormalities such as hypocalcemia, hypokalemia, hypomagnesemia, and hyponatremia, which may result in neurological complications including seizures and loss of consciousness. These findings necessitate consideration of important differential diagnoses such as Gitelman syndrome and cystic fibrosis, underscoring the importance of confirming the diagnosis of this serious condition, giving it appropriate attention, and initiating early treatment to prevent advanced complications. We report the case of a 36-year-old Jordanian male with a medical history of Bartter Syndrome and chronic kidney disease, who presented to the emergency department in a coma with generalized seizures due to severe electrolyte imbalances. His condition was further complicated by a genetic predisposition and a family history of Bartter Syndrome, with genetic testing confirming mutations in the CLCNKB gene. This rare case of Bartter Syndrome type III, in which the patient progressed to the stage of hemodialysis, illustrates the complexities of diagnosis and management, and emphasizes the importance of continuous care and regular follow-up.

Oxford Medical Case ReportsVol. 2025(12)
Mutah University (JO), University of Kalamoon (SY), Al Wataniya Private University (SY), Tbilisi State Medical University (GE)
Good health and well-being
Openalex Percentile: Top 36%
Ion Transport and Channel Regulation
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