Alpha-1-antitrypsin in umbilical cord serum: pi phenotypes and relationships with idiopathic respiratory distress syndrome. 1978

M Piantelli, and R Pozzuoli, and P Auconi, and P Musiani

The concentrations and phenotypes of serum alpha-1-antitrypsin (alpha1AT) were determined in 650 newborn infants. The distribution of these 650 subjects among the various Pi phenotypes confirms the higher frequency reported for the PiS allele in Latin populations. Serum alpha1AT levels vary between one phenotype and the other. Besides, at birth, infants weighing more than 2,500 g have alpha1AT levels significantly higher (P less than 0.001) than infants weighing less than 2,500 g; this difference in serum alpha1AT concentrations is due to the low alpha1AT levels found in preterm infants. The significantly lower alpha1AT concentrations found in preterms is associated with a higher risk of developing IRDS and with a mean birth weight under 2,000 g. Infants who develop IRDS frequently have lower alpha1AT levels than those who do not develop the syndrome, independently from body weight. On the basis of serum alpha1AT quantitation, newborn infants may be separated into two groups, characterized respectively by concentrations above or below 150 mg%. From our data, it appears that if the group with an alpha1AT concentration lower than 150 mg% is phenotyped, it is possible to differentiate infants with a high risk of fatal IRDS from individuals with a "pathological" phenotype.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D012127 Respiratory Distress Syndrome, Newborn A condition of the newborn marked by DYSPNEA with CYANOSIS, heralded by such prodromal signs as dilatation of the alae nasi, expiratory grunt, and retraction of the suprasternal notch or costal margins, mostly frequently occurring in premature infants, children of diabetic mothers, and infants delivered by cesarean section, and sometimes with no apparent predisposing cause. Infantile Respiratory Distress Syndrome,Neonatal Respiratory Distress Syndrome,Respiratory Distress Syndrome, Infant
D001724 Birth Weight The mass or quantity of heaviness of an individual at BIRTH. It is expressed by units of pounds or kilograms. Birthweight,Birth Weights,Birthweights,Weight, Birth,Weights, Birth
D005787 Gene Frequency The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION. Allele Frequency,Genetic Equilibrium,Equilibrium, Genetic,Allele Frequencies,Frequencies, Allele,Frequencies, Gene,Frequency, Allele,Frequency, Gene,Gene Frequencies
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000515 alpha 1-Antitrypsin Plasma glycoprotein member of the serpin superfamily which inhibits TRYPSIN; NEUTROPHIL ELASTASE; and other PROTEOLYTIC ENZYMES. Trypsin Inhibitor, alpha 1-Antitrypsin,alpha 1-Protease Inhibitor,alpha 1-Proteinase Inhibitor,A1PI,Prolastin,Serpin A1,Zemaira,alpha 1 Antiprotease,alpha 1-Antiproteinase,1-Antiproteinase, alpha,Antiprotease, alpha 1,Inhibitor, alpha 1-Protease,Inhibitor, alpha 1-Proteinase,Trypsin Inhibitor, alpha 1 Antitrypsin,alpha 1 Antiproteinase,alpha 1 Antitrypsin,alpha 1 Protease Inhibitor,alpha 1 Proteinase Inhibitor
D012306 Risk The probability that an event will occur. It encompasses a variety of measures of the probability of a generally unfavorable outcome. Relative Risk,Relative Risks,Risk, Relative,Risks,Risks, Relative
D014470 Umbilical Cord The flexible rope-like structure that connects a developing FETUS to the PLACENTA in mammals. The cord contains blood vessels which carry oxygen and nutrients from the mother to the fetus and waste products away from the fetus. Cord, Umbilical,Cords, Umbilical,Umbilical Cords

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