Bartter Syndrome: Perspectives of a Pediatric Nephrologist. [PDF]
Electrolyte Blood Press, 2022 Choi N, Kang HG.
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Diagnostic Challenge of Congenital Chloride Diarrhea and Ulcerative Colitis Overlap in an Adult Misdiagnosed with Bartter Syndrome: Case Report and Literature Review. [PDF]
Am J Case Rep, 2022 Patient: Male, 28-year-old Final Diagnosis: Congenital chloride diarrhea Symptoms: Alkalosis • diarrhea • hypokalemia Medication: — Clinical Procedure: — Specialty: Nephrology Objective: Rare disease Background: Congenital chloride diarrhea (CCD) is an ...
Sadagah LF, Makeen AZ, Kotbi ET.
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Bartter Syndrome Type 1 Due to Novel SLC12A1 Mutations Associated With Pseudohypoparathyroidism Type II. [PDF]
JCEM Case Rep, 2023 Kiuchi Z, Nozu K, Yan K, Jüppner H.
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Association of Adult-Onset Bartter Syndrome With Undifferentiated Connective Tissue Disorder. [PDF]
Cureus, 2021 Bartter syndrome is a rare autosomal recessive, salt-losing disorder characterized by hypokalemic hypochloremic metabolic alkalosis. We are reporting a case of 21 years old patient, who presented with lower limb weakness, marked hypokalemia, proteinuria,
Saleem N, Nasir H, Hassan D, Manzoor M.
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An Unusual Presentation of Failure to Thrive in a Toddler: Bartter Syndrome. [PDF]
CureusR A +4 more
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Different roles of the RAAS affect bone metabolism in patients with primary aldosteronism, Gitelman syndrome and Bartter syndrome. [PDF]
BMC Endocr Disord, 2022 Tang W +6 more
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A Case of Adult onset Bartter Syndrome with Nephrocalcinosis [PDF]
Kosin Medical Journal, 2014 Bartter syndrome is a renal tubular defect in electrolyte transport characterized by hypokalemia, metabolic alkalosis, hyperreninemia, hyperaldosteronism, normal blood pressure, and other clinical symptoms.
Min Gyu Park +5 more
doaj +1 more source
Type 1 Bartter syndrome presenting as primary diabetes insipidus: a rare Case Report with 8-year follow-up. [PDF]
Front GenetLu H, Liu S, Sun J, Mou L.
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A Novel Homozygous Mutation of Classic Bartter Syndrome Presenting with Renal Cysts in 6-year-Old Identical Twin Boys : A Case Report [PDF]
Childhood Kidney Diseases, 2021 Bartter syndrome is an autosomal recessive hypokalemic salt-losing tubulopathy, and classic Bartter syndrome is associated with mutations in the CLCNKB gene.
Min Hwa Son, Hyung Eun Yim, Kee Hwan Yoo
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Human Mutation, 2021 Mutations in Na‐K‐2Cl co‐transporter, NKCC2, lead to type I Bartter syndrome (BS1), a life‐threatening kidney disease. Yet, our knowledge of the molecular regulation of NKCC2 mutants remains poor.
Irfan Shaukat +9 more
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