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.
Subject(s)
Cystic Fibrosis/genetics , Dehydration/genetics , Membrane Proteins/genetics , Mutation/genetics , Child , Child, Preschool , Chloride Channels/genetics , Cystic Fibrosis Transmembrane Conductance Regulator , Humans , Hyponatremia/genetics , Infant , PhenotypeSubject(s)
Anti-Inflammatory Agents, Non-Steroidal/therapeutic use , Glucosephosphate Dehydrogenase Deficiency/drug therapy , Imidazoles/therapeutic use , Salicylates/therapeutic use , Anti-Bacterial Agents/administration & dosage , Anti-Inflammatory Agents, Non-Steroidal/administration & dosage , Child , Child, Preschool , Drug Therapy, Combination , Drug Tolerance , Female , Humans , Imidazoles/administration & dosage , Imidazoles/adverse effects , Infant , Male , Salicylates/administration & dosage , Salicylates/adverse effects , Time FactorsABSTRACT
In 30 children with homozygous beta-thalassemia the hemostasis screening tests (bleeding time, PT, PTT), platelet count and specific assays of clotting factors were carried out 25 days after their last transfusion. PT, PTT, and bleeding time showed minor variations; considerable thrombocytosis was found in splenectomized patients. Factors IX and XII were decreased in a high proportion of patients, the vitamin K-dependent factors (II, VII, IX, X) were slightly reduced and factors I, V and VIII remained within the normal range in a majority of patients. Hepatic failure resulting in defective protein synthesis does not explain the more marked impairment of factors XI and XII, which might be secondary to activation of the intrinsic coagulation and/or kallikrein systems following intravascular haemolysis and multiple blood transfusions.
