Results 31 to 40 of about 2,424,136 (181)
Osteomalacia in a Case of Adult-Onset Bartter Syndrome
European Journal of Case Reports in Internal Medicine, 2018 Bartter syndrome is a rare heterogeneous disease characterised by a deficiency in sodium and chloride absorption. Gain-of-function mutations in the CASR gene have been described in some patients with Bartter syndrome associated with hypocalcaemia and ...
Rashid Naseem Khan, Farhana Saba
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Status epilepticus as the only presentation of the neonatal Bartter syndrome
Indian Journal of Endocrinology and Metabolism, 2012 Bartter syndrome is a rare hereditary (autosomal recessive) salt-losing tubulopathy characterized by hypokalemia, hypochloremia, metabolic alkalosis, and normal blood pressure with hyperreninemia, The underlying renal abnormality results in excessive ...
Soumya Patra +5 more
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Pseudo-Bartter syndrome in an infant with congenital chloride diarrhoea [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2011 Introduction. Pseudo-Bartter syndrome encompasses a heterogenous group of disorders similar to Bartter syndrome. We are presenting an infant with pseudo-Bartter syndrome caused by congenital chloride diarrhoea. Case Outline. A male newborn born in the
Igrutinović Zoran +6 more
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European Medical Journal Cardiology, 2022 Takotsubo syndrome is a rare entity, and the occurrence of Bartter syndrome along with Takotsubo syndrome makes it a bizarre incidence. Diagnosis of both is very crucial and important, as the signs and symptoms tend to be different for each patient ...
Ramesh Patel +2 more
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Neonatal Bartter syndrome: A case report from Northern India
Український Журнал Нефрології та Діалізу, 2021 . Bartter Syndrome is a rare genetic disorder affecting the renal tubular system causing a decreased absorption of sodium and chloride in the thick ascending limb of the Henle loop. Most children present in infancy with complaints of polyuria, polydipsia,
Astitva Singh +4 more
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Unusual case of failure to thrive: Type III Bartter syndrome
Journal of Nepal Health Research Council, 2017 Bartter syndrome Type III is a rare autosomal recessive disorder resulting from an inherited defect in the thick ascending limb of the loop of henle of the nephrons in kidney.
Sumit Agrawal +3 more
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Splicing Characterization of CLCNKB Variants in Four Patients With Type III Bartter Syndrome
Frontiers in Genetics, 2020 Objective Type III Bartter syndrome (BS) is caused by loss-of-function mutations in the gene encoding basolateral chloride channel ClC-Kb (CLCNKB), and is characterized by hypokalemic metabolic alkalosis and hyperreninemic hyperaldosteronism.
Chunli Wang +10 more
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Saudi Journal of Anaesthesia, 2012 Bartter′s syndrome is an unusual (estimated incidence is 1.2 per million people) but important congenital form of secondary hyperaldosteronism; due to abnormalities in renal handling of electrolytes.
Nasser Nooh, Walid Abdullah, Saad Sheta
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Síndrome de bartter: uma nova abordagem terapêutica.
Acta Médica Portuguesa, 2011 The Bartter syndrome is a rare hereditary salt-wasting tubulopathy, characterized by metabolic alkalosis, hypokalemia, hyperreninemia and hyperaldosteronemia of varying severity.
Marta Mendonça +2 more
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Bartter-Like Syndrome as the Initial Presentation of Dent Disease 1: A Case Report
Frontiers in Pediatrics, 2021 Dent disease is a rare genetic disease characterized by low-molecular-weight proteinuria. Dent disease with Bartter-like syndrome is rare and can easily be misdiagnosed and mistreated. Herein, we report a case of Dent disease 1 with Bartter-like syndrome
Qiaoping Chen +4 more
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