scholarly journals Congenital chloride diarrhea: a review of twelve Arabian children

2013 ◽  
pp. 71
Author(s):  
Ahmed Farag Elhassanien ◽  
Fawaz Alrefaee ◽  
Alghiaty
Keyword(s):  
Congenital Chloride Diarrhea

Prenatal biochemical diagnosis of two forms of congenital diarrheal disorders (congenital chloride diarrhea and congenital sodium diarrhea): A series of 12 cases

2021 ◽  
Author(s):  
Laure Macraigne ◽  
Bichr Allaf ◽  
Christophe Buffat ◽  
Emmanuel Spaggiari ◽  
Georges Dimitrov ◽  
...  
Keyword(s):  
Congenital Chloride Diarrhea ◽  
Biochemical Diagnosis

Congenital Chloride Diarrhea

2009 ◽  
pp. 401-401
Author(s):  
Nils Peters ◽  
Martin Dichgans ◽  
Sankar Surendran ◽  
Josep M. Argilés ◽  
Francisco J. López-Soriano ◽  
...  
Keyword(s):  
Congenital Chloride Diarrhea

Congenital chloride diarrhea in pregnancy: A case report

2008 ◽  
Vol 136 (1) ◽  
pp. 127-128
Author(s):  
Shigeo Iijima ◽  
Takehiko Ohzeki ◽  
Motoi Sugimura ◽  
Naohiro Kanayama
Keyword(s):  
Case Report ◽  
Congenital Chloride Diarrhea ◽  
In Pregnancy

Butyrate as an effective treatment of congenital chloride diarrhea

2004 ◽  
Vol 127 (2) ◽  
pp. 630-634 ◽  
Author(s):  
Roberto Berni Canani ◽  
Gianluca Terrin ◽  
Pia Cirillo ◽  
Giuseppe Castaldo ◽  
Francesco Salvatore ◽  
...  
Keyword(s):  
Effective Treatment ◽  
Congenital Chloride Diarrhea

scholarly journals A novel de novo SLC26A3 mutation causing congenital chloride diarrhea in a Japanese neonate

2020 ◽  
Vol 8 (11) ◽  
Author(s):  
Ken‐ichiro Konishi ◽  
Tatsuki Mizuochi ◽  
Hitoshi Honma ◽  
Yuri Etani ◽  
Kazue Morikawa ◽  
...  
Keyword(s):  
De Novo ◽  
Congenital Chloride Diarrhea

scholarly journals Case Report on a Rare Disease in Lithuania: Congenital Chloride Diarrhea

2018 ◽  
Vol 08 (01) ◽  
pp. 024-026 ◽  
Author(s):  
Olga Liaugaudiene ◽  
Dalia Stoniene ◽  
Ruta Kucinskiene ◽  
Christophe Buffat ◽  
Virginija Asmoniene
Keyword(s):  
Rare Disease ◽  
Molecular Genetic ◽  
Electrolyte Imbalance ◽  
Secretory Diarrhea ◽  
Watery Diarrhea ◽  
Founder Mutations ◽  
Adequate Treatment ◽  
Surgical Interventions ◽  
Congenital Chloride Diarrhea ◽  
Long Term Prognosis

AbstractCongenital chloride diarrhea (CCD) is a rare disease, manifesting with secretory diarrhea and life-threatening electrolyte imbalance during infancy. The early diagnosis of CCD is therefore necessary for the adequate treatment. The long-term prognosis of properly managed CCD is favorable. We present a case of complicated CCD with necrotizing enterocolitis. The child was born to nonconsanguineous parents of Lithuanian origin. CCD was suspected due to watery diarrhea, progressive hypochloremia, and high fecal chlorides. Despite oral electrolytes being prescribed, volvulus of small intestine developed requiring several surgical interventions. The clinical diagnosis of CCD was confirmed by molecular genetic testing of SLC26A3, which revealed two Polish founder mutations in the DNA of the patient. The prevalence of CCD in Lithuanian neighbor Poland is approximately 1 in 200,000 live births. This is the first described case of CCD in Lithuania to our knowledge, leading to the suggestion that this disease may be underdiagnosed.

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