A novel MAGED2 variant in a Chinese preterm newborn with transient antenatal Bartter’s syndrome with 4 years follow-up [PDF]
BMC Nephrology, 2021 Background Transient antenatal Bartter’s syndrome caused by MAGED2 mutation is a rare X-linked recessive renal tubular disorder. Cases reported are mostly infants, and the long-term prognosis of the disease is still under investigation. Case presentation
Mingsheng Ma +6 more
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Transient Antenatal Bartter’s Syndrome: A Case Report [PDF]
Frontiers in Pediatrics, 2018 Antenatal Bartter’s syndrome is a rare inherited disorder characterized by fetal polyhydramnios and polyuria that is usually detected between 24 and 30 weeks of gestation. However, a rare, severe, but transient form of antenatal Bartter’s syndrome due to
Michelle Meyer +2 more
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Oxidants and Cardiorenal Vascular Remodeling—Insights from Rare Genetic Tubulopathies: Bartter’s and Gitelman’s Syndromes [PDF]
Antioxidants, 2023 Two human genetic tubulopathies, Bartter’s (BS) and Gitelman’s (GS) syndromes, have normo/hypotension and absent cardiac remodeling despite their apparent angiotensin system (RAS) activation.
Luca Sgarabotto +6 more
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Functional Study of Novel Bartter’s Syndrome Mutations in ClC-Kb and Rescue by the Accessory Subunit Barttin Toward Personalized Medicine [PDF]
Frontiers in Pharmacology, 2020 Type III and IV Bartter syndromes (BS) are rare kidney tubulopathies caused by loss-of-function mutations in the CLCNKB and BSND genes coding respectively for the ClC-Kb chloride channels and accessory subunit barttin. ClC-K channels are expressed in the
Dalila Sahbani +11 more
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“Every Cloud Has a Silver Lining”: How Three Rare Diseases Defend Themselves from COVID-19 and What We Have Learnt from It [PDF]
Clinics and PracticeThe process of SARS-CoV-2 infection, responsible for the COVID-19 pandemic, is carried out through different steps, with the interaction between ACE2 and Spike protein (S) being crucial.
Martina Cacciapuoti +5 more
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Severe polyhydramnios as neonatal presentation of Bartter’s syndrome type IV
Revista Brasileira de Saúde Materno Infantil, 2021 Introduction: Bartter’s syndrome comprises a heterogeneous group of inherited salt-losing tubulopathies. There are two forms of clinical presentation: classical and neonatal, the most severe type.
Mariana Alvarenga Hoesen Doutel Coroado +7 more
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A unique finding of normal aldosterone level in Bartter’s syndrome [PDF]
Journal of Nephropathology, 2017 Background: Bartter’s syndrome is a rare autosomal recessive renal tubular disorder characterized by hypokalemia, hypochloremia, metabolic alkalosis, hyperreninemia and hyperaldosteronemia with normotension.
Rupesh Raina +5 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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Frontiers in Pediatrics, 2021 Background: Polyhydramnios occurs frequently during pregnancy. Mutations in the MAGED2 gene can cause X-linked acute early-onset polyhydramnios with a severe but transient form of antenatal Bartter's syndrome.Case Presentation: Here, we report a new ...
Xiaoxia Wu +6 more
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Persistent hypokalemia due to a rare mutation in gitelman's syndrome
Saudi Journal of Kidney Diseases and Transplantation, 2020 Chronic hypokalemia is the main finding in patients with Gitelman’s syndrome (GS). GS, a variant of Bartter’s syndrome, is an autosomal recessive renal disorder characterized by hypokalemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria.
Dimitrios Mamalis +4 more
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