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Living Donor Lobar Lung Transplant for a Patient With Lung Disease Caused by ABCA3 Gene Mutations: A Case Report
Sakiko Kumata1, Yasushi Matsuda2, Hisashi Oishi1
1Department of Thoracic Surgery, Institute of Development, Aging, and Cancer, Tohoku University, Sendai, Japan.
Abstract:
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.
Insights
Mutations in the ABCA3 gene cause severe lung disease. Living-donor lung transplantation offered a successful treatment option for a child with ABCA3-related interstitial lung disease.
Area of Science:
- Genetics
- Pulmonology
- Transplantation
Background:
- Recessive mutations in the ABCA3 gene are a known cause of severe neonatal respiratory distress and interstitial lung disease (ILD) in children and adults.
- Current medical treatments for ABCA3-related ILD have limited efficacy, often necessitating lung transplantation for survival.
- Hydroxychloroquine showed a significant effect in a patient with ABCA3-related ILD, but progression still occurred.
Observation:
- A 20-month-old boy with ABCA3-related ILD was treated with hydroxychloroquine.
- Sequence analysis revealed novel compound heterozygous mutations in the ABCA3 gene.
- The patient's respiratory dysfunction progressed, leading to a living-donor lobar lung transplantation (LDLLT) at age 8.
Findings:
- The patient's parents served as bilateral lobar donors for the LDLLT.
- Genetic screening identified the parents as carriers of ABCA3 gene mutations.
- The recipient has remained well post-transplantation, with no chronic lung allograft dysfunction observed for 7 years.
Implications:
- Living-donor lobar lung transplantation is a viable therapeutic option for select pediatric patients with ABCA3 gene mutations awaiting cadaveric transplants.
- Pre-transplantation genetic screening of relative donors is crucial to rule out late-onset disease carriers.
- Successful LDLLT in this case highlights the potential of utilizing related donors in managing severe genetic lung diseases.
