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Titolo:
Distinct outcomes of chloride diarrhoea in two siblings with identical genetic background of the disease: implications for early diagnosis and treatment
Autore:
Hoglund, P; Holmberg, C; Sherman, P; Kere, J;
Indirizzi:
Univ Helsinki, Haartman Inst, Dept Med Genet, FIN-00014 Helsinki, Finland Univ Helsinki Helsinki Finland FIN-00014 et, FIN-00014 Helsinki, Finland Univ Helsinki, Hosp Children & Adolescents, FIN-00014 Helsinki, Finland Univ Helsinki Helsinki Finland FIN-00014 ts, FIN-00014 Helsinki, Finland Univ Toronto, Hosp Sick Children, Toronto, ON M5G 1X8, Canada Univ Toronto Toronto ON Canada M5G 1X8 ldren, Toronto, ON M5G 1X8, Canada Univ Helsinki, Finnish Genome Ctr, FIN-00014 Helsinki, Finland Univ Helsinki Helsinki Finland FIN-00014 tr, FIN-00014 Helsinki, Finland
Titolo Testata:
GUT
fascicolo: 5, volume: 48, anno: 2001,
pagine: 724 - 727
SICI:
0017-5749(200105)48:5<724:DOOCDI>2.0.ZU;2-M
Fonte:
ISI
Lingua:
ENG
Soggetto:
MUTATIONS;
Keywords:
chloride diarrhoea; SLC26A3 gene;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
17
Recensione:
Indirizzi per estratti:
Indirizzo: Hoglund, P Univ Helsinki, Haartman Inst, Dept Med Genet, POB 21 Haartmaninkatu 3, FIN-00014 Helsinki, Finland Univ Helsinki POB 21 Haartmaninkatu 3 Helsinki Finland FIN-00014
Citazione:
P. Hoglund et al., "Distinct outcomes of chloride diarrhoea in two siblings with identical genetic background of the disease: implications for early diagnosis and treatment", GUT, 48(5), 2001, pp. 724-727

Abstract

Background-Congenital chloride diarrhoea (CLD, OMIM 214700) is a serious inherited defect of intestinal electrolyte absorption transmitted in an autosomal recessive fashion. The major clinical manifestation is diarrhoea withhigh chloride content which can be balanced by substitution. The molecularpathology involves an epithelial Cl-/HCO3- exchanger protein, encoded by the solute carrier family 26, member 3 gene (SLC26A3), previously known as CLD or DRA (downregulated in adenomas). To date, almost 30 different mutations in the SLC26A3 gene have been identified throughout the world. No clear genotype-phenotype correlation has been established. Patients/methods-Two siblings presenting with CLD were studied for diseasehistory, supplementation, or other treatments, and for mutations in the SLC26A3 gene. Results-Mutatiom analysis revealed a homozygous I544N mutation in both patients. However, despite the uniform genetic background of CLD inthis family, the clinical picture and outcome of the disease were remarkably different between siblings. The older sibling had a late diagnosis and chronic course of the disease whereas the younger one, who was diagnosed soon after birth and immediately received supplementation therapy, grows and develops normally. Conclusion-Time of diagnosis, substitution therapy, compliance, and compensatory mechanisms are more important modulators of the clinical picture of CLD than the type of mutation in the SLC26A3 gene.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 06/04/20 alle ore 04:14:52