Neonatal screening for alpha1-antitrypsin deficiency

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The Oregon State Public Health Laboratory screened 107,038 newborn infants between 1971 and 1974 to determine the frequency and clinical characteristics of alpha1-antitrypsin deficiency. The screening program was based upon an assay of the total trypsin inhibitory activity in dried blood specimens collected on filter paper from infants during the first week of life and again from 75% of the same infants at four to six weeks of age. Twenty-one homozygous-deficient (PiZ) infants were identified, an incidence of one in 5,000. Of the 18 infants studied and followed, only one had neonatal hepatitis; five had hepatomegaly or biochemical abnormalities or both, indicating hepatic damage. Presently, the children range from three to six years of age; all are asymptomatic. Four of them have mild hepatomegaly and biochemical evidence of liver damage. As a result of family studies, four homozygous-deficient (PiZ) siblings were identified. One child had evidence of mild hepatic dysfunction, but the other three were clinically and biochemically normal. Nine of the 21 PiZ infants detected were missed on the initial sample, but identified on the four to six week sample. If a screening method based upon TIA is to be utilized, these results indicate that a repeat screening specimen should be obtained at four to six weeks of age. Newborn screening for alpha1-antitrypsin deficiency is not warranted at this time in view of the low frequency of significant pulmonary or hepatic involvement in childhood and the absence of specific therapy for this condition.

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Supported in part by grants from the National Foundation (No. CE-14), and from the National Institutes of Health (No. HD 03967-10), and from Maternal Child Health (Grant No. 435).

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