A patient with cystinosis presenting like bartter syndrome and review of literature

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dc.contributor.authorErtan P.
dc.contributor.authorEvrengul H.
dc.contributor.authorOzen S.
dc.contributor.authorEmre S.
dc.date.accessioned2024-07-22T08:19:49Z
dc.date.available2024-07-22T08:19:49Z
dc.date.issued2012
dc.description.abstractBackground: Nephropathic cystinosis is an autosomal recessively inherited metabolic disorder presenting with metabolic acidosis, Fanconi syndrome and renal failure. Case Presentation: We present a 6-year-old girl with severe growth failure, hyponatremia and hypokalemia. Her parents were 4th degree relatives. Two relatives were diagnosed as end stage renal failure. She also had persistant hypokalemic hypochloremic metabolic alkalosis. Her renal function was normal at presentation. She was thought to have Bartter syndrome with supporting findings of elevated levels of renin and aldosterone with normal blood pressure, and hyperplasia of juxtaglomerular apparatus. Her metabolic alkalosis did not resolve despite supportive treatment. At 6th month of follow-up proteinuria, glucosuria and deterioration of renal function developed. Diagnosis of cystinosis was made with slit lamp examination and leukocyte cystine levels. At 12th month of follow-up her metabolic alkalosis has converted to metabolic acidosis. Conclusion: In children presenting with persistant metabolic alkalosis, with family history of renal failure, and parental consanguinity, cystinosis should always be kept in mind as this disease is an important cause of end stage renal failure which may have features mimmicking Bartter syndrome. © 2012 by Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, All rights reserved.
dc.identifier.issn10184406
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/17865
dc.language.isoEnglish
dc.publisherBrieflands
dc.subjectaldosterone
dc.subjectalkaline phosphatase
dc.subjectcalcitriol
dc.subjectcystine
dc.subjectindometacin
dc.subjectmercaptamine
dc.subjectparathyroid hormone
dc.subjectpotassium
dc.subjectpotassium chloride
dc.subjectrenin
dc.subjectsodium
dc.subjectalkaline phosphatase blood level
dc.subjectarticle
dc.subjectBartter syndrome
dc.subjectblood gas analysis
dc.subjectcase report
dc.subjectchild
dc.subjectclinical feature
dc.subjectcystinosis
dc.subjectdisease association
dc.subjectfamily history
dc.subjectfemale
dc.subjectfollow up
dc.subjectglomerulus filtration rate
dc.subjectglucosuria
dc.subjecthuman
dc.subjecthuman tissue
dc.subjecthyperplasia
dc.subjecthypochloremia
dc.subjecthypokalemia
dc.subjecthyponatremia
dc.subjecthypophosphatemia
dc.subjectjuxtaglomerular apparatus
dc.subjectkidney biopsy
dc.subjectkidney tubule disorder
dc.subjectmedical history
dc.subjectmetabolic acidosis
dc.subjectmetabolic alkalosis
dc.subjectphysical examination
dc.subjectpreschool child
dc.subjectproteinuria
dc.subjectrickets
dc.subjectslit lamp
dc.subjectsocial support
dc.titleA patient with cystinosis presenting like bartter syndrome and review of literature
dc.typeArticle

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