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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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Osteomalacia in a Case of Adult-Onset Bartter Syndrome
European Journal of Case Reports in Internal Medicine, 2018 Bartter syndrome is a rare heterogeneous disease characterised by a deficiency in sodium and chloride absorption. Gain-of-function mutations in the CASR gene have been described in some patients with Bartter syndrome associated with hypocalcaemia and ...
Rashid Naseem Khan, Farhana Saba
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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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Status epilepticus as the only presentation of the neonatal Bartter syndrome
Indian Journal of Endocrinology and Metabolism, 2012 Bartter syndrome is a rare hereditary (autosomal recessive) salt-losing tubulopathy characterized by hypokalemia, hypochloremia, metabolic alkalosis, and normal blood pressure with hyperreninemia, The underlying renal abnormality results in excessive ...
Soumya Patra +5 more
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Pseudo-Bartter syndrome in an infant with congenital chloride diarrhoea [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2011 Introduction. Pseudo-Bartter syndrome encompasses a heterogenous group of disorders similar to Bartter syndrome. We are presenting an infant with pseudo-Bartter syndrome caused by congenital chloride diarrhoea. Case Outline. A male newborn born in the
Igrutinović Zoran +6 more
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Neonatal Bartter syndrome [PDF]
The Indian Journal of Pediatrics, 2002 A case of neonatal Bartter syndrome is reported. The baby born pre-term following a pregnancy complicated by polyhydramnios, presented at 7 months of age with failure to thrive, gastroenteritis and facial dysmorphisms. An unusual feature was the absence of the classical biochemical abnormality of hypochloremic alkalosis early in the course of the ...
Mamta N, Muranjan +4 more
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Unusual case of failure to thrive: Type III Bartter syndrome
Journal of Nepal Health Research Council, 2017 Bartter syndrome Type III is a rare autosomal recessive disorder resulting from an inherited defect in the thick ascending limb of the loop of henle of the nephrons in kidney.
Sumit Agrawal +3 more
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European Medical Journal Cardiology, 2022 Takotsubo syndrome is a rare entity, and the occurrence of Bartter syndrome along with Takotsubo syndrome makes it a bizarre incidence. Diagnosis of both is very crucial and important, as the signs and symptoms tend to be different for each patient ...
Ramesh Patel +2 more
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Neonatal Bartter syndrome: A case report from Northern India
Український Журнал Нефрології та Діалізу, 2021 . Bartter Syndrome is a rare genetic disorder affecting the renal tubular system causing a decreased absorption of sodium and chloride in the thick ascending limb of the Henle loop. Most children present in infancy with complaints of polyuria, polydipsia,
Astitva Singh +4 more
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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 +8 more
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