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 +6 more sources
A Rare Cause of Refractory Severe Polyhydramnios: Antenatal Bartter Syndrome [PDF]
Medicina, 2021 Background: Antenatal Bartter syndrome is an autosomal recessive disorder causing severe polyuria that leads to severe polyhydramnios and preterm labor. Prenatal diagnosis of antenatal Bartter syndrome is difficult because the genetic diagnosis can only ...
Gina Nam, Angela Cho, Mi-Hye Park
doaj +3 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 +3 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 +3 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 +3 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 +4 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
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
An Atypical Presentation of Bartter Syndrome Type 3 With Hypocalciuria and Opisthotonus Posture in a Preterm Infant. [PDF]
Clin Case RepABSTRACT This case highlights an unusual presentation of Bartter Syndrome Type 3 marked by hypocalciuria and opisthotonus posture. Recognizing such atypical neuromuscular signs is essential for early diagnosis, genetic confirmation, and targeted management in pediatric patients with electrolyte imbalances.
Hassan K +5 more
europepmc +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