Results 1 to 10 of about 2,424,136 (181)

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

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, Zhiyong Liu, Yaying Wu, Jinglin Xu, Ying He, Ruiquan Wang, Weifeng Zhang, Dongmei Chen   +7 more
doaj   +3 more sources

Bartter syndrome in a female infant: A rare case report from Syria [PDF]

SAGE Open Medical Case Reports
Antenatal Bartter syndrome is a rare condition that affects approximately 1.2 individuals per million. It is caused by renal tubular dysfunction that impairs the reabsorption of sodium and chloride.
Hamdah Hanifa, Jamal Ataya, Malak Abu-Naja, Ali Aborahhal, Nihad Assaf   +4 more
doaj   +3 more sources

Bartter Syndrome: A Systematic Review of Case Reports and Case Series. [PDF]

Medicina (Kaunas), 2023
Background and Objectives: Bartter syndrome (BS) is a rare group of autosomal-recessive disorders that usually presents with hypokalemic metabolic alkalosis, occasionally with hyponatremia and hypochloremia.
Qasba RK, Bucharles ACF, Piccoli MVF, Sharma P, Banga A, Kamaraj B, Nawaz FA, Kumar HJ, Happy MA, Qasba RK, Kogilathota Jagirdhar GS, Essar MY, Garg P, Reddy ST, Rama K, Surani S, Kashyap R.   +16 more
europepmc   +2 more sources

A Rare Presentation of Adult-Onset Bartter Syndrome: A Case Report. [PDF]

Cureus, 2023
Bartter syndrome is a rare, salt-wasting tubulopathy with impaired ion reabsorption in the ascending limb of the loop of Henle, which results in hypokalemia, hypochloremia, and hypercalciuria.
Alla D, Kesineni MK, Vempati R, Patel H, Menezes S, Alla SSM, Patel D, Gupta S, Patel K, Pradeep A.   +9 more
europepmc   +2 more sources

Long-term outcome of Bartter syndrome in 54 patients: A multicenter study in Korea. [PDF]

Front Med (Lausanne), 2023
Introduction Bartter syndrome (BS) is a rare salt-wasting tubulopathy caused by mutations in genes encoding sodium, potassium, or chloride transporters of the thick ascending limb of the loop of Henle and/or the distal convoluted tubule of the kidney. BS
Choi N, Kim SH, Bae EH, Yang EM, Lee KH, Lee SH, Lee JH, Ahn YH, Cheong HI, Kang HG, Hyun HS, Kim JH.   +11 more
europepmc   +2 more sources

Genetic Heterogeneity in Bartter Syndrome: Clinical and Practical Importance. [PDF]

Front Pediatr, 2022
Bartter syndrome (BS) is a rare tubulopathy that causes polyuria, hypokalemia, hypochloremic metabolic alkalosis, and normotensive hyperreninemic hyperaldosteronism. It is characterized by locus, clinical, and allelic heterogeneity.
Florea L, Caba L, Gorduza EV.
europepmc   +2 more sources

Association of Adult-Onset Bartter Syndrome With Undifferentiated Connective Tissue Disorder. [PDF]

Cureus, 2021
Bartter syndrome is a rare autosomal recessive, salt-losing disorder characterized by hypokalemic hypochloremic metabolic alkalosis. We are reporting a case of 21 years old patient, who presented with lower limb weakness, marked hypokalemia, proteinuria,
Saleem N, Nasir H, Hassan D, Manzoor M.
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, Manish Kumar, Preethi Navaneethan, Sumita Danda, Manisha M. Beck, Yang Pan   +5 more
doaj   +2 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

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, Dor Mohammad Kordi-Tamandani, Farkhondeh Behjati, Simin Sadeghi-Bojd, Zeineb Bakey, Ehsan Ghayoor Karimiani, Isabel Schüle, Anoush Azarfar, Miriam Schmidts   +8 more
doaj   +2 more sources