Prenatal Diagnosis of Bartter Syndrome: Lessons From a Complex Diagnostic Procedure [PDF]
Clinical Case ReportsBartter syndrome is an idiopathic condition that may manifest antenatally, characterized by a spectrum of symptoms including maternal polyhydramnios, prematurity, polyuria, hypercalciuria, nephrocalcinosis, normomagnesemia, vomiting, growth retardation ...
Athina A. Samara +9 more
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Bartter syndrome: causes, diagnosis, and treatment
International Journal of Nephrology and Renovascular Disease, 2018 Tamara da Silva Cunha, Ita Pfeferman Heilberg Nephrology Division, Universidade Federal de São Paulo (UNIFESP), Escola Paulista de Medicina, São Paulo, Brazil Abstract: Bartter syndrome is an inherited renal tubular disorder caused by a ...
Cunha TDS, Heilberg IP
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Bartter syndrome with long-term follow-up: a case report
Journal of International Medical Research, 2020 Bartter syndrome is a rare inherited disease caused by CLCNKB mutation, which results in inactivation of the chloride channel Kb protein. Bartter syndrome is characterized by extreme hypokalemia, hypochloremia, metabolic alkalosis, hyperrenin-induced ...
Xueling Wu +6 more
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Fetal umbilical vein thrombosis associated with fetal bartter syndrome: an unusual case report and literature review [PDF]
BMC Pregnancy and ChildbirthBackground Bartter syndrome (BS) is a rare autosomal recessive renal disease. There are relatively few reports on fetal Bartter syndrome, but it has been documented that the condition can increase the incidence of prematurity and hypovolemia.
Jinglin Zhao, Aiyun Xing, Jin Jia
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Bartter Syndrome Type 3: Phenotype-Genotype Correlation and Favorable Response to Ibuprofen
Frontiers in Pediatrics, 2018 Objective: To investigate the phenotype-genotype correlation in different genetic kinds of Bartter syndrome type 3 in children.Methods: Clinical and genetic data of 2 patients with different mutations in Bartter syndrome type 3 was analyzed while the ...
Xuejun Yang +4 more
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A mosaic mutation in the CLCNKB gene causing Bartter syndrome: A case report [PDF]
Frontiers in Pediatrics, 2023 BackgroundType III Bartter syndrome (BS) is an autosomal recessive disease caused by mutations in the CLCNKB (chloride voltage-gated channel Kb) gene that encodes CLC-Kb.
Lan Zhou +7 more
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Balancing Benefits and Risks of Indomethacin in the Management of Antenatal Bartter Syndrome: A Case Report [PDF]
Frontiers in Medicine, 2022 BackgroundBartter syndrome, a very rare inherited renal tubular disorder, characterized by urinary salt wastage, hypokalemia, polyuria, and metabolic alkalosis, may manifest antenatally as severe isolated polyhydramnios.
Omar Ala' Alajjuri +4 more
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Novel CLCNKB Mutation in Two Siblings With Classic Bartter Syndrome [PDF]
Case Reports in GeneticsConclusions: Bartter syndrome Type III is a genetic disorder that must be identified clinically without delay, as it typically manifests as acute dehydration due to polyuria and vomiting.
Navid Roodaki +3 more
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Acquired Bartter Syndrome in Primary Sjögren Syndrome
Saudi Journal of Kidney Diseases and Transplantation, 2020 Renal tubular involvement in Sjögren's syndrome (SS) often described with renal tubular acidosis, nephrogenic diabetes insipidus, or rarely with Fanconi syndrome.
Aya Fraj +6 more
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Gitelman and Bartter Syndrome in a Patient With Morbid Obesity: A Case Report and Literature Review. [PDF]
Clin Case RepABSTRACT We present a case study of a 34‐year‐old man with morbid obesity and a suspected Bartter–Gitelman spectrum tubulopathy (without genetic confirmation), weighing 135 kg, and with a BMI of 42.5 kg/m2, who was referred to the metabolic and bariatric surgery department due to morbid obesity to address abnormal electrolyte levels.
Hasani S +4 more
europepmc +2 more sources