Living Donor Lobar Lung Transplant for a Patient With Lung Disease Caused by ABCA3 Gene Mutations: A Case Report

Sakiko Kumata, Yasushi Matsuda, Hisashi Oishi, Tetsu Sado, Hiromichi Niikawa, Tatsuaki Watanabe, Masafumi Noda, Yasushi Hoshikawa, Akira Sakurada, Ryoko Saito-Koyama, Hidetaka Niizuma, Hiroshi Kitazawa, Miki Akiba, Yoji Sasahara, Yoshinori Okada

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)


Recessive gene mutations in ABCA3 cause lethal neonatal respiratory distress, and pediatric and adult interstitial lung disease. The effectiveness of medical treatments is limited and a subset of such patients will eventually require lung transplantation. A 20 months old boy developed interstitial lung disease and was treated with hydroxychloroquine, which had a significant effect. Sequence analysis of ABCA3 gene revealed newly discovered compound heterozygous mutations. His respiratory dysfunction gradually progressed over years and he underwent living-donor lobar lung transplantation (LDLLT) at 8 years of age with his parents serving as bilateral lobar donors. The parents had been genetically examined beforehand and found to be carriers who had one allele with an ABCA3 gene mutation and the other with no mutation. The recipient has been well without chronic lung allograft dysfunction and his parents have been enjoying healthy social lives for 7 years since the operations. LDLLT appears to be a valid option for selected children with ABCA3 gene mutations who are too ill to wait for cadaveric lung transplantation. When relatives of the recipient with ABCA3 gene mutation are deemed potential donors for LDLLT, sequence analyses of the donors are indispensable to exclude the possibility that they are late-onset patients of this recessive hereditary disease.

Original languageEnglish
Pages (from-to)2803-2806
Number of pages4
JournalTransplantation Proceedings
Issue number10
Publication statusPublished - 12-2022

All Science Journal Classification (ASJC) codes

  • Surgery
  • Transplantation


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