New insights into the role of endoplasmic reticulum‐associated degradation in Bartter Syndrome Type 1
Sign Up to like & getrecommendations! Published in 2021 at "Human Mutation"
DOI: 10.1002/humu.24217
Abstract: Mutations in Na‐K‐2Cl co‐transporter, NKCC2, lead to type I Bartter syndrome (BS1), a life‐threatening kidney disease. Yet, our knowledge of the molecular regulation of NKCC2 mutants remains poor. Here, we aimed to identify the molecular… read more here.
Keywords: endoplasmic reticulum; degradation; associated degradation; bartter syndrome ... See more keywords
A novel differential diagnosis to nonobstructive diffuse and dilated bowel loops with polyhydramnios: Bartter syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Ultrasound"
DOI: 10.1002/jcu.22642
Abstract: Bartter syndrome is a rare autosomal recessive renal tubular disorder, first described by Frederic Bartter in 1962. The primary pathogenic mechanism is defective transepithelial chloride reabsorption in the thick ascending limb of the loop of… read more here.
Keywords: bartter syndrome; bowel; weeks gestation; diagnosis ... See more keywords
A novel CLCNKB variant in a Chinese family with classic Bartter syndrome and prenatal genetic diagnosis
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2027
Abstract: Type III Bartter syndrome (BS), often known as classic Bartter syndrome is caused by variants in CLCNKB gene, which encoding the basolateral chloride channel protein ClC‐Kb, and is characterized by renal salt wasting, hypokalemia, metabolic… read more here.
Keywords: novel clcnkb; clcnkb variant; bartter syndrome; bartter ... See more keywords
Clinical features and accompanying findings of Pseudo‐Bartter Syndrome in cystic fibrosis
Sign Up to like & getrecommendations! Published in 2020 at "Pediatric Pulmonology"
DOI: 10.1002/ppul.24805
Abstract: Pseudo‐Bartter syndrome (PBS) is a rare complication of cystic fibrosis (CF) and there are limited data in the literature about it. We aimed to compare clinical features and accompanying findings of patients with PBS in… read more here.
Keywords: cystic fibrosis; clinical features; pseudo bartter; bartter syndrome ... See more keywords
A Bartter syndrome patient presenting with severe growth retardation: Questions
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric Nephrology"
DOI: 10.1007/s00467-021-05382-4
Abstract: A girl aged 6 years applied to the Pediatric Nephrology outpatient facility with growth retardation. She was previously diagnosed with Bartter syndrome from a local city hospital based on polyuria, polydipsia, hyponatremia, hypochloremia, hypokalemia, and… read more here.
Keywords: growth retardation; day; bartter syndrome; nephrology ... See more keywords
Adjunctive acetazolamide therapy for the treatment of Bartter syndrome
Sign Up to like & getrecommendations! Published in 2019 at "International Urology and Nephrology"
DOI: 10.1007/s11255-019-02351-7
Abstract: Purpose Bartter syndrome is a rare hereditary salt-losing tubulopathy caused by mutations of several genes in the thick ascending limb of Henle’s loop, characterized by polyuria, hypokalemic metabolic alkalosis, growth retardation and normal blood pressure.… read more here.
Keywords: adjunctive acetazolamide; bartter; acetazolamide therapy; treatment ... See more keywords
Bartter’s syndrome: clinical findings, genetic causes and therapeutic approach
Sign Up to like & getrecommendations! Published in 2020 at "World Journal of Pediatrics"
DOI: 10.1007/s12519-020-00370-4
Abstract: Backgound Bartter’s syndrome (BS) is a rare group of salt losing tubulopathies due to the impairment of transport mechanisms at the thick ascending limb of the Henle’s loop. Data sources Literature reviews and original research… read more here.
Keywords: findings genetic; bartter syndrome; clinical findings; genetic causes ... See more keywords
Prenatal diagnosis of MAGED2 gene mutation causing transient antenatal Bartter syndrome.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2021.104308
Abstract: Transient antenatal Bartter syndrome due to melanoma-associated antigen D2 gene mutation is a newly reported type of Bartter syndrome. Its characteristics include an X-linked inheritance pattern, early-onset hydramnios, and spontaneous disappearance of symptoms after childbirth.… read more here.
Keywords: gene mutation; bartter syndrome;
Pathophysiology of antenatal Bartter's syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Current Opinion in Nephrology and Hypertension"
DOI: 10.1097/mnh.0000000000000346
Abstract: Purpose of review Antenatal Bartter syndrome (aBS) is a heterogenous disease resulting from defective ion transport in the thick ascending limb of the loop of Henle. Novel insights into the pathophysiology, as well as the… read more here.
Keywords: bartter syndrome; antenatal bartter; pathophysiology antenatal;
Antenatal Bartter syndrome presenting with vomiting and constipation mimicking subacute intestinal obstruction in a 20-day-old neonate
Sign Up to like & getrecommendations! Published in 2017 at "BMJ Case Reports"
DOI: 10.1136/bcr-2017-221062
Abstract: Antenatal Bartter syndrome is a rare condition that can present with different clinical features. These features include early onset maternal polyhydramnios, failure to thrive, prematurity and nephrocalcinosis. We are presenting this 20-day-old girl who had… read more here.
Keywords: day old; bartter syndrome; intestinal obstruction; antenatal bartter ... See more keywords
Patient with Bartter syndrome in whom chronic potassium depletion was considered one of the causes of hyponatremia
Sign Up to like & getrecommendations! Published in 2021 at "BMJ Case Reports"
DOI: 10.1136/bcr-2020-240898
Abstract: A 53-year-old man was admitted to our hospital because of general fatigue and disorientation. He had been diagnosed with Bartter syndrome in his teens and had been taking potassium preparations since then. However, his serum… read more here.
Keywords: potassium; patient bartter; syndrome chronic; bartter syndrome ... See more keywords