PMID: 7543567Aug 1, 1995Paper

A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration

The Journal of Pediatrics
G B LeoniMaria Cristina Rosatelli

Abstract

We carried out molecular screening for mutations in the cystic fibrosis transmembrane regulator (CFTR) gene in eight children of Sardinian descent seen because of hypotonic dehydration associated with hyponatremia, hypochloremia, hypokalemia, and metabolic alkalosis; none had pulmonary or pancreatic involvement. All the patients had the T3381 mutation either in homozygosity or compound heterozygosity with another CF mutation. The T3381 mutation was not detected in patients with CF who had classic symptoms or in healthy persons of the same descent. These data suggest that the T3381 mutation is associated with a specific mild CF phenotype.

References

Apr 1, 1992·Journal of Pediatric Gastroenterology and Nutrition·A GuarinoA Rubino
Aug 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·R K SaikiH A Erlich
Mar 2, 1989·Nature·M Farrall, P J Scambler
Oct 28, 1993·The New England Journal of Medicine·UNKNOWN Cystic Fibrosis Genotype-Phenotype Consortium
Aug 14, 2001·Clinics in Perinatology·L P Shulman, S Elias

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Citations

Jan 5, 2002·Early Human Development·S Koletzko, D Reinhardt
Dec 12, 2013·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Elisabetta Scurati-ManzoniSebastiano A G Lava
Apr 1, 1997·American Journal of Public Health·M J Rotheram-Borus
Apr 1, 1997·American Journal of Public Health·W el-Sadr, J D Neaton
Jun 27, 2006·Paediatric Respiratory Reviews·Eitan Kerem
May 1, 1996·The Journal of Pediatrics·M G Bianchetti, S Mauri
Oct 7, 2004·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·Donatello SalvatoreFrancesco Salvatore
Sep 23, 2016·Expert Review of Respiratory Medicine·Ruth K MichlJochen G Mainz
Jun 14, 2005·Annals of Tropical Paediatrics·Ebru YalçinAyşe Tana Aslan
Feb 7, 2001·Andrologia·M Stuhrmann, T Dörk
Jul 23, 2019·Pediatric Pulmonology·Piercarlo PoliRita Padoan
Nov 30, 2006·Clinical Chemistry·Ibrahim BatalMichael Laposata
Dec 1, 1996·Pediatric Pulmonology·E Kerem, B Kerem
Jun 12, 2019·Clinical Case Reports·Mojgan Faraji-Goodarzi
Oct 15, 2019·Temperature : Multidisciplinary Biomedical Journal·Lindsay B Baker
Feb 11, 2021·Clinical Kidney Journal·Oluwatoyin Fatai Bamgbola, Youssef Ahmed

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