Novel CLCNKB Mutation in Two Siblings With Classic Bartter Syndrome [PDF]
Case Reports in GeneticsConclusions: 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 +3 more
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Clinical Case ReportsSevere polyhydramnios occurs in 1%–2% of pregnancies and may be associated with maternal diabetes, fetal structural anomalies, genetic disorders, or remain idiopathic. Among the rare etiologies is Bartter syndrome, a renal tubular defect causing impaired
Fatemeh Shariati nia +5 more
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Bartter syndrome in a female infant: A rare case report from Syria [PDF]
SAGE Open Medical Case ReportsAntenatal 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 +4 more
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A Rare Cause of Refractory Severe Polyhydramnios: Antenatal Bartter Syndrome
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
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A Case of Adult onset Bartter Syndrome with Nephrocalcinosis [PDF]
Kosin Medical Journal, 2014 Bartter syndrome is a renal tubular defect in electrolyte transport characterized by hypokalemia, metabolic alkalosis, hyperreninemia, hyperaldosteronism, normal blood pressure, and other clinical symptoms.
Min Gyu Park +5 more
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A Novel Homozygous Mutation of Classic Bartter Syndrome Presenting with Renal Cysts in 6-year-Old Identical Twin Boys : A Case Report [PDF]
Childhood Kidney Diseases, 2021 Bartter syndrome is an autosomal recessive hypokalemic salt-losing tubulopathy, and classic Bartter syndrome is associated with mutations in the CLCNKB gene.
Min Hwa Son, Hyung Eun Yim, Kee Hwan Yoo
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Bartter Type 4a Syndrome Diagnosed in a 30-week-old Preterm Neonate
Bagcilar Medical Bulletin, 2023 Bartter syndrome is an uncommon autosomal recessive, salt-losing renal tubular disease. Its defining features are numerous electrolyte abnormalities, including low potassium and chloride levels, metabolic alkalosis, and low or normal blood pressure.
Çağrı Cumhur Gök +4 more
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Autosomal dominant hypocalcemia with Bartter syndrome due to a novel activating mutation of calcium sensing receptor, Y829C [PDF]
Korean Journal of Pediatrics, 2015 The calcium sensing receptor (CaSR) plays an important role in calcium homeostasis. Activating mutations of CaSR cause autosomal dominant hypocalcemia by affecting parathyroid hormone secretion in parathyroid gland and calcium resorption in kidney.
Keun Hee Choi +3 more
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Medullary Nephrocalcinosis – Unraveling a Mystery
Indian Journal of Kidney Diseases, 2023 This is a case report of Bartter syndrome type 2 being diagnosed in an adult patient during evaluation for end stage kidney disease. This 29-year old woman first presented during her first pregnancy with proteinuria and on evaluation she was found to ...
S. Ravitej +4 more
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Bartter Syndrome Type 3: Phenotype-Genotype Correlation and Favorable Response to Ibuprofen
Frontiers in Pediatrics, 2018 Objective: To investigate the phenotype-genotype correlation in different genetic kinds of Bartter syndrome type 3 in children.Methods: Clinical and genetic data of 2 patients with different mutations in Bartter syndrome type 3 was analyzed while the ...
Xuejun Yang +4 more
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