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Congenital chloride diarrhea

A hereditary autosomal recessive form of severe chronic diarrhea characterized by excretion of large amounts of watery stool containing high levels of CHLORIDES, resulting in DEHYDRATION, HYPOKALEMIA, and metabolic ALKALOSIS. This disorder phenotypically resembles the renal disorder BARTTER SYNDROME (OMIM: 607364), however, it is not associated with calcium level abnormalities. Mutations in the SLC26A3 gene have been identified. OMIM: 214700
Also Known As:
Chloridorrhea, congenital; Congenital chloridorrhea; Darrow-Gamble disease; Diarrhea 1, secretory chloride, congenital
Networked: 77 relevant articles (1 outcomes, 4 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Adenoma (Adenomas)
2. Diarrhea
3. Alkalosis
4. Inborn Genetic Diseases (Disease, Hereditary)
5. Polyhydramnios

Experts

1. Castaldo, Giuseppe: 5 articles (02/2021 - 08/2004)
2. Höglund, Pia: 5 articles (03/2011 - 12/2002)
3. Wedenoja, Satu: 4 articles (01/2020 - 01/2008)
4. Holmberg, Christer: 4 articles (10/2008 - 12/2002)
5. Esposito, Maria Valeria: 3 articles (02/2021 - 01/2021)
6. Gelzo, Monica: 3 articles (02/2021 - 01/2021)
7. Canani, Roberto Berni: 3 articles (01/2021 - 08/2004)
8. Kere, Juha: 3 articles (01/2020 - 12/2002)
9. Berni Canani, Roberto: 2 articles (02/2021 - 01/2021)
10. Buffat, Christophe: 2 articles (01/2021 - 03/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Congenital chloride diarrhea:
1. Butyrates (Butyrate)IBA
2. ChloridesIBA
3. Bicarbonates (Hydrogen Carbonate)IBA
4. ElectrolytesIBA
5. AnionsIBA
6. Sulfate TransportersIBA
11/01/2002 - "These findings provide a molecular mechanism for epithelial HCO(3)(-) transport (one SLC26 transporter-electrogenic transport; two SLC26 transporters with opposite stoichiometry in the same membrane domain-electroneutral transport), the CF-associated aberrant HCO(3)(-) transport, and reveal a new function of CFTR with clinical implications for CF and congenital chloride diarrhea."
01/01/2020 - "Congenital chloride diarrhea and Pendred syndrome: case report of siblings with two rare recessive disorders of SLC26 family genes."
01/01/2005 - "Special interest has focused on four members of the SLC26 family that are associated with distinct recessive diseases: (i) Mutations in SLC26A2 lead to four different chondrodysplasias (diastrophic dysplasia, atelosteogenesis type II, achondrogenesis type IB and multiple epiphyseal dysplasia); (ii) SLC26A3 is associated with congenital chloride diarrhea; (iii) SLC26A4 is associated with Pendred syndrome and non-syndromic deafness, DFNB4; and (iv) SLC26A5 is defective in non-syndromic hearing impairment. "
03/01/2018 - "Solute carrier family 26, member 3 (Slc26a3), also termed downregulated-in-adenoma (DRA) is a member of the Slc26 family of anion transporters and is mutated in congenital chloride diarrhea. "
10/01/2001 - "These include the renal sulfate transporters NaSi-1 and sat-1, the ubiquitously expressed diastrophic dysplasia sulfate transporter DTDST, the intestinal sulfate transporter DRA that is linked to congenital chloride diarrhea, and the erythrocyte anion exchanger AE1. "
7. Chloride-Bicarbonate AntiportersIBA
8. SaltsIBA
9. SodiumIBA
10. Sulfates (Sulfates, Inorganic)IBA

Therapies and Procedures

1. Therapeutics
2. Kidney Transplantation
3. Transplantation
4. Gastrectomy
5. Aftercare (After-Treatment)