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DOI: 10.1055/s-0039-1695059
Recurrent Metabolic Alkalosis in a Cystic Fibrosis Patient: Coexistence with Congenital Chloride Diarrhea
Publikationsverlauf
01. März 2019
16. Juli 2019
Publikationsdatum:
02. September 2019 (online)
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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.
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References
- 1 Wedenoja S, Pekansaari E, Höglund P, Mäkelä S, Holmberg C, Kere J. Update on SLC26A3 mutations in congenital chloride diarrhea. Hum Mutat 2011; 32 (07) 715-722
- 2 Wedenoja S, Höglund P, Holmberg C. Review article: the clinical management of congenital chloride diarrhoea. Aliment Pharmacol Ther 2010; 31 (04) 477-485
- 3 Mäkelä S, Kere J, Holmberg C, Höglund P. SLC26A3 mutations in congenital chloride diarrhea. Hum Mutat 2002; 20 (06) 425-438
- 4 Elrefae F, Elhassanien AF, Alghiaty HA. Congenital chloride diarrhea: a review of twelve Arabian children. Clin Exp Gastroenterol 2013; 6: 71-75
- 5 Hihnala S, Höglund P, Lammi L, Kokkonen J, Ormälä T, Holmberg C. Long-term clinical outcome in patients with congenital chloride diarrhea. J Pediatr Gastroenterol Nutr 2006; 42 (04) 369-375
- 6 Kere J, Sistonen P, Holmberg C, de la Chapelle A. The gene for congenital chloride diarrhea maps close to but is distinct from the gene for cystic fibrosis transmembrane conductance regulator. Proc Natl Acad Sci U S A 1993; 90 (22) 10686-10689
- 7 Elborn JS. Cystic fibrosis. Lancet 2016; 388 (10059): 2519-2531
- 8 Kennedy JD, Dinwiddie R, Daman-Willems C, Dillon MJ, Matthew DJ. Pseudo-Bartter's syndrome in cystic fibrosis. Arch Dis Child 1990; 65 (07) 786-787
- 9 Marah MA. Pseudo-Bartter as an initial presentation of cystic fibrosis. A case report and review of the literature. East Mediterr Health J 2010; 16 (06) 699-701
- 10 Kintu B, Brightwell A. Episodic seasonal pseudo-Bartter syndrome in cystic fibrosis. Paediatr Respir Rev 2014; 15 (Suppl. 01) 19-21
- 11 Eğrıtaş O, Dalgiç B, Wedenoja S. Congenital chloride diarrhea misdiagnosed as Bartter syndrome. Turk J Gastroenterol 2011; 22 (03) 321-323
- 12 Saneian H, Bahraminia E. Congenital chloride diarrhea misdiagnosed as pseudo-Bartter syndrome. J Res Med Sci 2013; 18 (09) 822-824
- 13 Igrutinović Z, Peco-Antić A, Radlović N. , et al. Pseudo-Bartter syndrome in an infant with congenital chloride diarrhoea. Srp Arh Celok Lek 2011; 139 (9-10): 677-680
- 14 Pieroni KP, Bass D. Proton pump inhibitor treatment for congenital chloride diarrhea. Dig Dis Sci 2011; 56 (03) 673-676