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J Pediatr Genet 2019; 08(01): 024-026
DOI: 10.1055/s-0038-1669437
Case Report
Georg Thieme Verlag KG Stuttgart · New York

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

Olga Liaugaudiene
1   Department of Genetics and Molecular Medicine, Hospital of Lithuanian University of Health Sciences, Kaunas, Lithuania
,
Dalia Stoniene
2   Department of Neonatology, Hospital of Lithuanian University of Health Sciences, Kaunas, Lithuania
,
Ruta Kucinskiene
3   Department of Pediatric, Hospital of Lithuanian University of Health Sciences, Kaunas, Lithuania
,
Christophe Buffat
4   Laboratoire de Biologie Moléculaire, Hôpital de la Conception, Assistance Publique Hôpitaux de Marseille, Marseille, France
,
Virginija Asmoniene
1   Department of Genetics and Molecular Medicine, Hospital of Lithuanian University of Health Sciences, Kaunas, Lithuania
› Author Affiliations
Further Information

Publication History

05 June 2018

21 July 2018

Publication Date:
25 August 2018 (online)

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Abstract

Congenital 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.

Keywords

congenital chloride diarrhea - SLC26A3 gene - chloride malabsorption - necrotizing enterocolitis
 

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