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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Mutationsanalysen bei hereditären Salzverlusttubulopathien [PDF]
, 2004 Der Begriff Bartter-Syndrom stellt den historisch bedingten Sammelbegriff für einige hereditäre Tubulopathien dar, denen eine chronische hypokaliämische metabolische Alkalose gemein ist.
Ott, Henning +1 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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The calcilytic agent NPS 2143 rectifies hypocalcemia in a mouse model with an activating calcium-sensing-receptor (CaSR) mutation:relevance to autosomal dominant hypocalcemia type 1 (ADH1) [PDF]
, 2015 Autosomal dominant hypocalcemia type 1 (ADH1) is caused by germline gain-of-function mutations of the calcium-sensing receptor (CaSR) and may lead to symptomatic hypocalcemia, inappropriately low serum parathyroid hormone (PTH) concentrations and ...
Allen M. Spiegel +44 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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Síndrome de Bartter: evaluación del desarrollo estatural y perfil metabólico [PDF]
, 2011 OBJECTIVE: Bartter's syndrome is one of the most important inherited diseases that cause chloride leak. The objective of this study was to report the follow-up of ten patients with the syndrome.
Andrade, Maria Cristina de +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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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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Clinical and diagnostic features of Bartter and Gitelman syndromes [PDF]
, 2017 Background: Bartter and Gitelman syndromes are autosomal recessive disorders of renal tubular salt handling. Due to their rarity, limited long-term data are available to inform prognosis and management.
Ashton, E +8 more
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Genetic, Pathophysiological and Clinical Aspects of Nephrocalcinosis [PDF]
, 2016 Nephrocalcinosis describes the ectopic deposition of calcium salts in the kidney parenchyma. Nephrocalcinosis can result from a number of acquired causes, but also an even greater number of genetic diseases, predominantly renal, but also extra-renal ...
Ben Oliveira +17 more
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