Distinct outcomes of chloride diarrhoea in two siblings with identical genetic background of the disease: Implications for early diagnosis and treatment

Gut

Volumn 48, Issue 5, 2001, Pages 724-727

  Hoglund P ^a   Holmberg, C ^b   Sherman, P ^c   Kere, J ^b  

^a UNIVERSITY OF HELSINKI   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Chloride diarrhoea; SLC26A3 gene

Indexed keywords

CHLORIDE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CHLORIDE DIARRHEA; CLINICAL FEATURE; DISEASE COURSE; EARLY DIAGNOSIS; GENE MUTATION; HUMAN; MALABSORPTION; MALE; PRIORITY JOURNAL;

CHLORIDE CHANNELS; CHLORIDES; DIARRHEA; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MUTATION, MISSENSE; PATIENT COMPLIANCE; PEDIGREE; POLYMERASE CHAIN REACTION; PROGNOSIS; TREATMENT OUTCOME; WATER-ELECTROLYTE IMBALANCE;

EID: 0035029623     PISSN: 00175749     EISSN: None     Source Type: Journal    
DOI: 10.1136/gut.48.5.724     Document Type: Article

References (17)

1. Mutations in the down-regulated in adenoma (DRA) gene cause congenital chloride diarrhea
2. Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait
3. Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene
4. The down regulated in adenoma (DRA) gene encodes an anion exchanger that is defective in congenital chloride diarrhea
5. Genetic disorders of membrane transport III. Congenital chloride diarrhea
6. Proton-pump inhibition of gastric chloride secretion in congenital chloridorrhea
7. Genomic structure of the human congenital chloride diarrhea (CLD) gene
8. Congenital chloride diarrhea. Clinical analysis of 21 Finnish patients
9. Familial chloride diarrhoea ("Congenital alkalosis with diarrhoea")
10. Congenital chloride diarrhea, an autosomal recessive disease
11. Congenital chloride diarrhea
12. Congenital chloride diarrhea. A study in Arab children
13. Hypertensive angiopathy in familial chloride diarrhoea
14. Congenital chloride losing enteropathy associated with tophaceous gouty, arthritis
15. Cholestyramine in treatment of congenital chloride diarrhoea
16. A novel mutation of the down-regulated in adenoma gene in a Japanese case with congenital chloride diarrhea
17. Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea