RESUMO
BACKGROUND: Newborn screening for cystic fibrosis (CF) with immunoreactive trypsinogen (IRT) and DeltaF508 analysis followed by sweat testing misses some infants with CF and detects more DeltaF508 carriers than expected. Some of the apparent DeltaF508 carriers may be DeltaF508 compound heterozygotes with normal sweat electrolyte levels. METHODS: Infants identified by newborn screening with an elevated IRT level, one DeltaF508 allele, and a sweat chloride level <60 mmol/L underwent CF mutation analysis, pancreatic stimulation testing, and repeat IRT analysis followed by clinical review and repeat sweat test at 12 months. RESULTS: Over a 24-month period we identified 122 DeltaF508 heterozygotes and recruited 57; 4 had borderline sweat chloride levels (40 to 60 mmol/L), 5 (8.8%, 95% CI 1.4, 16.2) had a second CF mutation (R117H), and 11 (20%, 95% CI 10, 30) had the intron 8 5T allele. Three had clinical CF at 12 months (initial sweat chloride levels: 53, 51, and 32 mmol/L). Pancreatic electrolyte secretion in the subjects with a borderline sweat chloride level was similar to that in patients with known CF. CONCLUSION: The excess of DeltaF508 heterozygotes detected by IRT/DNA screening is associated with the presence of a second mutation or the 5T allele in some infants. Screened infants with borderline sweat chloride levels almost certainly have CF, but long-term follow-up of the infants with the genotype DeltaF508/R117H and DeltaF508/5T is required to determine their outcome. In the meantime, newborn screening should be confined to severe mutations associated with classic CF.
Assuntos
Regulador de Condutância Transmembrana em Fibrose Cística/genética , Fibrose Cística/genética , Análise Mutacional de DNA , Triagem de Portadores Genéticos , Testes de Função Pancreática , Fibrose Cística/metabolismo , Feminino , Genótipo , Humanos , Recém-Nascido , Masculino , Triagem Neonatal , Tripsinogênio/metabolismo , Equilíbrio HidroeletrolíticoRESUMO
Ten children with extrahepatic portal hypertension who had major bleeding from esophageal varices were treated with sclerotherapy of esophageal varices by means of flexible fiberoptic endoscopy and intravenous sedation. Four had had no previous therapy, five had had previous surgery for variceal bleeding, and five had received propranolol orally. During therapy and follow-up monitoring of 1.4 to 7.1 years (mean 4.7 years), only two patients bled again from esophageal varices, one before complete obliteration of varices and one who temporarily defaulted on follow-up. The few complications were easily managed, and only three required any specific therapy. No child bled from gastric varices. Frequency of sclerotherapy sessions and quantity of sclerosant could be decreased with time, usually after 3 years of sclerotherapy, suggesting that the natural history of decreased bleeding with time in extrahepatic portal hypertension may be accelerated by sclerotherapy. Esophageal varices in children with extrahepatic portal hypertension may be treated safely with sclerotherapy, which is effective in preventing chronic and recurrent gastrointestinal bleeding.
Assuntos
Varizes Esofágicas e Gástricas/terapia , Hemorragia Gastrointestinal/terapia , Soluções Esclerosantes/uso terapêutico , Adolescente , Criança , Pré-Escolar , Endoscopia , Feminino , Tecnologia de Fibra Óptica , Seguimentos , Humanos , Masculino , RecidivaRESUMO
Thirteen children with very short small bowel (less than or equal to 38 cm jejunoileum) beginning in the first month of life were enrolled in a home parenteral nutrition program between 1977 and 1984. Their survival is compared with the collective reported experience with short bowel syndrome before 1972: nine (69%) of 13 have survived, compared with seven (23%) of 30 previously. Five discontinued parenteral nutrition after periods of 4 to 32 months of therapy, and have normal growth and development. Two still receive partial (50% and 60%) parenteral nutrition after 9 and 55 months, respectively, and two still receive total parenteral nutrition after 66 and 68 months of therapy, respectively; all four infants have grown normally, and three are developmentally normal. In the combined categories of 15 to 38 cm jejunoileum without the ileocecal valve and less than 15 cm jejunoileum with and without the ileocecal valve, seven (70%) of 10 have survived, compared with none (0%) of 16 before 1972; three of these discontinued parenteral nutrition. Ultimate survival with normal growth without parenteral nutrition is now possible with as little as 11 cm jejunoileum with an intact ileocecal valve and as little as 25 cm jejunoileum without an ileocecal valve.