Literature DB >> 20199192

Rare presentation of cystinosis mimicking Bartter's syndrome: reports of two patients and review of the literature.

Aysun Caltik1, Sare Gülfem Akyüz, Ozlem Erdogan, Mehmet Bülbül, Gülay Demircin.   

Abstract

We present here two girls with cystinosis initially diagnosed as Bartter syndrome. Both cases were admitted with hypokalemic, hypochloremic alkalosis. Their proximal tubular functions, ophthalmologic and bone marrow examinations were normal. They were started on therapies with the diagnosis of Bartter syndrome. The first patient developed signs of rickets, and the second patient was lost to follow-up and readmitted with chronic renal failure. On reevaluation cystine crystals were detected in cornea and bone marrow aspirates of both patients. We aimed to remind the rare presentation of cystinosis with metabolic alkalosis mimicking Bartter syndrome by these two cases and review the literature.

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Year:  2010        PMID: 20199192     DOI: 10.3109/08860221003592804

Source DB:  PubMed          Journal:  Ren Fail        ISSN: 0886-022X            Impact factor:   2.606


  7 in total

1.  Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations.

Authors:  Mohammad Al-Haggar
Journal:  World J Nephrol       Date:  2013-11-06

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

Authors:  Pelin Ertan; Havva Evrengul; Serkan Ozen; Sinan Emre
Journal:  Iran J Pediatr       Date:  2012-12       Impact factor: 0.364

Review 3.  Cystinosis: practical tools for diagnosis and treatment.

Authors:  Martijn J Wilmer; Joost P Schoeber; Lambertus P van den Heuvel; Elena N Levtchenko
Journal:  Pediatr Nephrol       Date:  2010-08-24       Impact factor: 3.714

Review 4.  Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects.

Authors:  Hannsjörg W Seyberth; Karl P Schlingmann
Journal:  Pediatr Nephrol       Date:  2011-04-19       Impact factor: 3.714

5.  Cystinosis presenting with findings of Bartter syndrome.

Authors:  Behzat Özkan; Atilla Çayır; Celalettin Koşan; Handan Alp
Journal:  J Clin Res Pediatr Endocrinol       Date:  2011-06-08

6.  Primary molecular disorders and secondary biological adaptations in bartter syndrome.

Authors:  Georges Deschênes; Marc Fila
Journal:  Int J Nephrol       Date:  2011-09-20

Review 7.  Differential diagnosis of perinatal Bartter, Bartter and Gitelman syndromes.

Authors:  Oluwatoyin Fatai Bamgbola; Youssef Ahmed
Journal:  Clin Kidney J       Date:  2020-10-25
  7 in total

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