Liver transplantation for alpha 1 antitrypsin deficiency (A1ATD) using a heterozygous donor: Outcomes and review of the literature

Pediatr Transplant. 2023 Jun;27(4):e14488. doi: 10.1111/petr.14488. Epub 2023 Feb 19.

Abstract

Introduction: Alpha 1 antitrypsin deficiency (A1ATD) accounts for 21% of all pediatric liver transplants due to metabolic disease in the western world. Donor heterozygosity has been evaluated in adults but not to a recipient with A1ATD.

Methods: The data of patient were retrospectively analyzed and a literature review performed.

Results: We present a unique case of living related donation from a A1ATD heterozygote female to a child for decompensated cirrhosis due to A1ATD. In the immediate postoperative period, the child had low-alpha 1 antitrypsin levels, but these normalized by 3 months posttransplant. He is currently 19 months post-transplant with no evidence of recurrent disease.

Conclusion: Our case provides initial evidence that A1ATD heterozygote donors may be safely used for pediatric patients with A1ATD, thus expanding the donor pool.

Keywords: alpha-1 antitrypsin deficiency; liver transplant; outcomes; pediatric.

Publication types

  • Review
  • Case Reports

MeSH terms

  • Child
  • Female
  • Heterozygote*
  • Humans
  • Liver / chemistry
  • Liver / pathology
  • Liver Transplantation*
  • Living Donors*
  • Male
  • Tissue and Organ Procurement
  • alpha 1-Antitrypsin Deficiency* / genetics
  • alpha 1-Antitrypsin Deficiency* / surgery
  • alpha 1-Antitrypsin* / analysis
  • alpha 1-Antitrypsin* / genetics

Substances

  • alpha 1-Antitrypsin