Serum levels of α1-antitrypsin predict phenotypic expression of the α1-antitrypsin gene

Research output: Contribution to journalArticle

22 Citations (Scopus)

Abstract

We conducted a retrospective analysis to determine if both α 1-antitrypsin serum level and phenotype need be studied when evaluating children for α1-AT deficiency. We collected data from patients less than 19 years old who had both serum α1-AT level and phenotype determined over a 9-year period (January 1992-December 2000). Eighty-eight patients were identified and 15 had the PiZZ phenotype. The serum α1-AT level was below normal (normal 85-215 mg/dl) in all 15 PiZZ patients. Seventy-two of 73 non-PiZZ patients had normal or above normal serum levels. The sensitivity of the serum α1-AT level was 100%, and the specificity was 99%. The serum α1-AT level had a positive predictive value of 94% and a negative predictive value of 100%. We conclude that serum α1-AT levels are highly predictive of the PiZZ phenotype. Determination of the serum α1-AT level alone should be the initial test when evaluating for α1-AT deficiency.

Original languageEnglish
Pages (from-to)1793-1796
Number of pages4
JournalDigestive Diseases and Sciences
Volume48
Issue number9
DOIs
StatePublished - Sep 1 2003

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Serum
Genes
Phenotype

Keywords

  • α -antitrypsin
  • Cholestasis
  • Liver diseases
  • Neonatal jaundice
  • Pediatrics

ASJC Scopus subject areas

  • Gastroenterology

Cite this

Serum levels of α1-antitrypsin predict phenotypic expression of the α1-antitrypsin gene. / Steiner, Steven; Gupta, Sandeep; Croffie, Joseph; Fitzgerald, Joseph F.

In: Digestive Diseases and Sciences, Vol. 48, No. 9, 01.09.2003, p. 1793-1796.

Research output: Contribution to journalArticle

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