Adult‐Onset Bartter Syndrome Presenting as Refractory Hypokalemia and Metabolic Alkalosis: A Case Report [PDF]
Clinical Case ReportsBartter syndrome (BS) is a rare autosomal recessive salt‐wasting tubulopathy characterized by hypokalemic metabolic alkalosis, hyperreninemia, and hyperaldosteronism without hypertension.
Muhammad Asif +7 more
doaj +3 more sources
Osteomalacia in a Case of Adult-Onset Bartter Syndrome [PDF]
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
doaj +5 more sources
Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis [PDF]
Orphanet Journal of Rare Diseases, 2019 Background Bartter Syndrome is a rare, genetically heterogeneous, mainly autosomal recessively inherited condition characterized by hypochloremic hypokalemic metabolic alkalosis.
Maryam Najafi +8 more
doaj +5 more sources
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
An Unusual Case of BSND Gene–Related (Type IV) Bartter Syndrome Presenting as Antenatal Bartter Syndrome: A Case Report and Review of Literature [PDF]
Maternal-Fetal Medicine, 2023 . Bartter syndrome is a group of autosomal recessive renal tubular disorders; it has two types of presentation: antenatal and classic. The antenatal type presents as severe unexplained polyhydramnios in the second trimester.
Aleena M. Shajan +5 more
doaj +2 more sources
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
doaj +2 more sources
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
doaj +2 more sources
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
doaj +2 more sources
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
doaj +2 more sources
Case Report: Transient antenatal bartter syndrome in an extremely preterm infant with a novel MAGED2 variant [PDF]
Frontiers in Pediatrics, 2023 Variants in the MAGED2 may cause antenatal transient Bartter syndrome, which is characterised by polyhydramnios, preterm labour, postnatal polyuria, hypokalaemia and metabolic alkalosis.
Hongyuan Yang +7 more
doaj +2 more sources