Pseudo‐Bartter syndrome in infant with cystic fibrosis screen positive, inconclusive diagnosis: A case report [PDF]
Clinical Case Reports, 2023 Key Clinical Message The introduction of newborn screening for cystic fibrosis (CF) increased diagnosis of cystic fibrosis screen positive inconclusive diagnosis (CFSPID).
Angela Sepe +9 more
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A neonate with intrauterine growth restriction and pseudo‐Bartter syndrome due to severe maternal eating disorder: A case report [PDF]
Clinical Case Reports, 2020 Maternal diet before and during pregnancy plays an important role for the developing fetus. Any eating disorder in this period can cause transient or/and permanent negative effects on the mother and her offspring.
Evgeniya Babatseva +12 more
doaj +3 more sources
Pseudo‐Bartter syndrome in children with cystic fibrosis [PDF]
Clinical Case Reports, 2019 Cystic fibrosis (CF) is an autosomal recessive genetic disorder. We report a case of a boy aged 4.5 years with cystic fibrosis, presenting under‐weightness, hypocalcemia, metabolic alkalosis, hypokalemia, and hyponatremia.
Mojgan Faraji‐Goodarzi
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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
doaj +7 more sources
Congenital chloride diarrhea misdiagnosed as pseudo-Bartter syndrome
Journal of Research in Medical Sciences, 2013 Congenital chloride diarrhea (CCD) is a rare autosomal recessive disease which is characterized by intractable diarrhea of infancy, failure to thrive, high fecal chloride, hypochloremia, hypokalemia, hyponatremia and metabolic alkalosis.
Hossein Saneian, Emad Bahraminia
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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 [PDF]
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
doaj +5 more sources
Case Report: Type II Bartter syndrome with a novel KCNJ1 variant in a premature neonate presenting with features of salt-wasting congenital adrenal crisis and pseudo-hypoaldosteronism [PDF]
Frontiers in PediatricsIntroductionBartter syndrome (BS) is a rare group of inherited renal tubulopathies. Diagnosis of BS type II is challenging in the neonatal period as its clinical findings and biochemical features may mimic that of adrenal crisis and pseudo ...
Heung-Ching Tsui +7 more
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Dent Disease 1 Presented Early with Bartter-Like Syndrome Features and Rickets: A Case Report [PDF]
Case Reports in Nephrology and DialysisIntroduction: Dent disease (DD) is characterized by a triad of low-molecular-weight proteinuria, hypercalciuria, and nephrocalcinosis/nephrolithiasis.
Cahyani Gita Ambarsari +3 more
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Genetic and clinical characteristics of pediatric patients with cystic fibrosis: a single-center retrospective study in China [PDF]
Orphanet Journal of Rare DiseasesBackground Despite the increasing recognition of cystic fibrosis (CF) in China, few cases have been reported in the Xinjiang Uyghur Autonomous Region (Xinjiang), which is located in China’s northwest with a diverse ethnic composition. This study aimed to
Jinrong Liu +11 more
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The hypokalemia mystery: distinguishing Gitelman and Bartter syndromes from ‘pseudo-Bartter syndrome’ [PDF]
Nephrology Dialysis Transplantation, 2020 The Gitelman and Bartter syndromes (GS and BS, respectively) are characterized by the constellation of hypokalemia, hypochloremia, metabolic alkalosis, hyperreninemic hyperaldosteronism, low to normal blood pressure and juxtaglomerular apparatus hypertrophy.
Sara S Jdiaa +4 more
openaire +6 more sources