Literature DB >> 31976143

Recurrent Metabolic Alkalosis in a Cystic Fibrosis Patient: Coexistence with Congenital Chloride Diarrhea.

Etna Masip1, Ester Donat1, Begoña Polo1, Silvestre Oltra2, Pedro Ortega3, Carmen Ribes-Koninckx1.   

Abstract

Metabolic alkalosis is uncommon in infancy. Cystic fibrosis (CF) patients can develop dehydration because of sweat salt or gastrointestinal losses; with the correct salt supplementation, the electrolyte alterations can be reversed. Here, we present a CF patient with recurrent metabolic alkalosis, initially oriented as pseudo-Bartter's syndrome. However, despite accurate treatment, patient needed daily intravenous fluids to maintain homeostasis. An extended study was made, including a urine study that could rule out Bartter's diagnosis. Finally, after a complementary test that included electrolyte stools study and genetic analysis, congenital chloride diarrhea could be diagnosed. © Thieme Medical Publishers.

Entities:  

Keywords:  congenital chloride diarrhea; cystic fibrosis; metabolic alkalosis

Year:  2019        PMID: 31976143      PMCID: PMC6976311          DOI: 10.1055/s-0039-1695059

Source DB:  PubMed          Journal:  J Pediatr Genet        ISSN: 2146-460X


  14 in total

1.  Pseudo-Bartter syndrome in an infant with congenital chloride diarrhoea.

Authors:  Zoran Igrutinović; Amira Peco-Antić; Nedeljko Radlović; Biljana Vuletić; Slavica Marković; Ana Vujić; Zorica Rasković
Journal:  Srp Arh Celok Lek       Date:  2011 Sep-Oct       Impact factor: 0.207

2.  Proton pump inhibitor treatment for congenital chloride diarrhea.

Authors:  Kevin P Pieroni; Dorsey Bass
Journal:  Dig Dis Sci       Date:  2010-12-03       Impact factor: 3.199

Review 3.  Pseudo-Bartter as an initial presentation of cystic fibrosis. A case report and review of the literature.

Authors:  M A Marah
Journal:  East Mediterr Health J       Date:  2010-06       Impact factor: 1.628

4.  Pseudo-Bartter's syndrome in cystic fibrosis.

Authors:  J D Kennedy; R Dinwiddie; C Daman-Willems; M J Dillon; D J Matthew
Journal:  Arch Dis Child       Date:  1990-07       Impact factor: 3.791

Review 5.  Update on SLC26A3 mutations in congenital chloride diarrhea.

Authors:  Satu Wedenoja; Elina Pekansaari; Pia Höglund; Siru Mäkelä; Christer Holmberg; Juha Kere
Journal:  Hum Mutat       Date:  2011-06-07       Impact factor: 4.878

Review 6.  SLC26A3 mutations in congenital chloride diarrhea.

Authors:  Siru Mäkelä; Juha Kere; Christer Holmberg; Pia Höglund
Journal:  Hum Mutat       Date:  2002-12       Impact factor: 4.878

7.  The gene for congenital chloride diarrhea maps close to but is distinct from the gene for cystic fibrosis transmembrane conductance regulator.

Authors:  J Kere; P Sistonen; C Holmberg; A de la Chapelle
Journal:  Proc Natl Acad Sci U S A       Date:  1993-11-15       Impact factor: 11.205

Review 8.  Cystic fibrosis.

Authors:  J Stuart Elborn
Journal:  Lancet       Date:  2016-04-29       Impact factor: 79.321

9.  Episodic seasonal Pseudo-Bartter syndrome in cystic fibrosis.

Authors:  Brett Kintu; Alex Brightwell
Journal:  Paediatr Respir Rev       Date:  2014-05-10       Impact factor: 2.726

Review 10.  Review article: the clinical management of congenital chloride diarrhoea.

Authors:  S Wedenoja; P Höglund; C Holmberg
Journal:  Aliment Pharmacol Ther       Date:  2009-11-11       Impact factor: 8.171

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