https://pubmed.ncbi.nlm.nih.gov/36808684/ Alpha1 antitrypsin
Review

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

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

Vikrant Sood 1, Eliza J Lee 2, Vikram Raghu 3, Miguel Reyes-Mugica 4, Claudia M Salgado 4, James Squires 3, George Mazariegos 5

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.