Results 1 to 10 of about 3,150 (155)

Molecular Genetics of Bartter Syndrome: Bridging Genotype–Phenotype Correlations and Precision Therapeutics [PDF]

Current Issues in Molecular Biology
Bartter syndrome (BS) represents a group of rare, autosomal recessive renal tubular disorders characterized by hypokalemic hypochloremic metabolic alkalosis, secondary hyperaldosteronism, and normal to low blood pressure.
Lina Zhu, Yang Li, Yiyao Bao
doaj   +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

Fetal umbilical vein thrombosis associated with fetal bartter syndrome: an unusual case report and literature review [PDF]

BMC Pregnancy and Childbirth
Background 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

Adult‐Onset Bartter Syndrome Presenting as Refractory Hypokalemia and Metabolic Alkalosis: A Case Report [PDF]

Clinical Case Reports
Bartter syndrome (BS) is a rare autosomal recessive salt‐wasting tubulopathy characterized by hypokalemic metabolic alkalosis, hyperreninemia, and hyperaldosteronism without hypertension.
Muhammad Asif, Ayesha Sanam, Muhammad Ilyas, Sawera Tahir, Tahir Hanif, Muddassir Khalid, Iqra Sarwar, Fred Segawa   +7 more
doaj   +2 more sources

Prenatal Diagnosis of Bartter Syndrome: Lessons From a Complex Diagnostic Procedure [PDF]

Clinical Case Reports
Bartter 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, Paschalis Mousios, Paraskevas Perros, Antonios Koutras, Emmanouil Manolakos, Eleftherios Anastasakis, Chara Skentou, Konstantinos Dafopoulos, Antonios Garas, Sotirios Sotiriou   +9 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, Zhiyong Liu, Yaying Wu, Jinglin Xu, Ying He, Ruiquan Wang, Weifeng Zhang, Dongmei Chen   +7 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, Lan Zhou, Xiaohui Chen, Xiaohui Chen, Jiaojiao Xiong, Jiaojiao Xiong, Ling Lei, Ling Lei   +7 more
doaj   +2 more sources

Novel CLCNKB Mutation in Two Siblings With Classic Bartter Syndrome [PDF]

Case Reports in Genetics
Conclusions: Bartter syndrome Type III is a genetic disorder that must be identified clinically without delay, as it typically manifests as acute dehydration due to polyuria and vomiting.
Navid Roodaki, Leigh Michelle Salinas, Ebner Bon G. Maceda, Jorelyn Frias   +3 more
doaj   +2 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   +2 more sources

Bartter syndrome: causes, diagnosis, and treatment

International Journal of Nephrology and Renovascular Disease, 2018
Tamara da Silva Cunha, Ita Pfeferman Heilberg Nephrology Division, Universidade Federal de São Paulo (UNIFESP), Escola Paulista de Medicina, São Paulo, Brazil Abstract: Bartter syndrome is an inherited renal tubular disorder caused by a ...
Cunha TDS, Heilberg IP
doaj   +2 more sources