Pediatric Case Report: Successful Bilateral Lung Transplantation Performed to Treat an 8-Year-Old Girl with Pulmonary Interstitial Fibrosis Due to Surfactant Protein (SP)-C Gene Mutation
Pediatric lung transplantation is a highly specialized therapy for end-stage pulmonary disease in children, performed in only a handful of transplant centers worldwide. Over the past decade, approximately 100 cases of pediatric lung transplantation have been conducted annually globally. Most centers perform 1 to 4 pediatric lung transplantations per year, with only five centers performing more than five annually. Since 2007, our team has performed lung transplantations in 12 pediatric patients, 11 of whom were over 10 years old. This report describes a rare case of successful bilateral lung transplantation in an 8-year-old girl with pulmonary interstitial fibrosis due to a surfactant protein (SP)-C gene (SFTPC) mutation. To our knowledge, this is the first successful pediatric bilateral lung transplantation recipient younger than 10 years old in mainland China.
Indications for Pediatric Lung Transplantation
The indications for pediatric lung transplantation vary by age. In children over 5 years old, cystic fibrosis is the most common indication. In infants, the most common indications are pulmonary hypertension (37%, including primary pulmonary arterial hypertension and congenital heart disease) and surfactant disorders (30%). In our center, 7 out of 12 patients received lung transplantation due to pulmonary hypertension. Mutations in the SFTPC gene have been associated with neonatal respiratory distress syndrome (RDS) and childhood interstitial lung disease (ILD). Delayed diagnosis and improper management can lead to irreversible respiratory failure, necessitating lung transplantation.
Case Presentation
The patient, an 8-year-old girl, was admitted to our hospital in July 2019 due to chronic tachypnea, cough, and poor nutritional status. Her symptoms began at 9 months of age when she was diagnosed with severe pneumonia and pneumothorax. During her initial hospitalization, she was intubated due to respiratory failure. After intensive care, she was discharged but continued to experience worsening symptoms, including cough, tachypnea, and failure to thrive. Over the years, her symptoms were aggravated by recurrent respiratory tract infections. Despite treatment with antibiotics and oral prednisolone, her condition deteriorated, and she did not respond to long-term oxygen therapy.
Upon admission to our hospital, the girl exhibited poor nutritional status, with a height of 110 cm and weight of 18.4 kg (body mass index: 15.2 kg/m²). Clinically, her 6-minute walking test result was 230 meters, with a minimal pulse oxygen saturation (SO₂) of 90% (oxygen flow rate 2.5 L/min). Initial venous blood gas analysis showed a pH of 7.38, partial pressure of carbon dioxide (PaCO₂) of 50.1 mmHg, partial pressure of oxygen (PaO₂) of 53 mmHg, and SO₂ of 86%. A chest computed tomography (CT) scan revealed pulmonary interstitial fibrosis with pulmonary infections and emphysema. Genetic analysis identified a novel heterozygous c.218T>C, chr8-22020609*1p.173T mutation in the SFTPC gene, which was not found in her parents.
Transplantation Process
After detailed discussions with the family, the patient was listed on the Chinese Network for Organ Sharing as a lung transplantation candidate on July 31, 2019. Within two months, she underwent successful bilateral lung transplantation from a 15-year-old male donor. The patient was weaned off mechanical ventilation one day post-transplantation and transferred from the intensive care unit to the general ward three days later. She was discharged 20 days post-transplantation without acute complications. Immunosuppressive therapy, including tacrolimus, mycophenolate mofetil, and methylprednisolone, was administered. Post-operative chest CT scans showed good recruitment of the donated lungs in the patient’s chest.
Surgical Considerations and Challenges
Size matching in lung transplantation is crucial, particularly in pediatric cases. The International Society for Heart and Lung Transplantation guidelines suggest an acceptable donor size match of 75% to 125% of the recipient’s predicted total lung capacity (TLC). However, there are no specific guidelines for pediatric patients, making donor selection challenging. In this case, the recipient was 8 years old, with a height of 110 cm and weight of 18.4 kg, while the donor was 15 years old, with a height of 165 cm and weight of 70 kg. Initially, lobar lung transplantation was considered due to the anticipated size mismatch. However, during the operation, it was found that the disparity was not as large as expected. After anatomic resection of the left pulmonary lingular segment and the right middle lobe, the size matched well, and the bilateral lung transplantation was completed in 4 hours using a clamshell incision.
Post-Operative Care and Outcomes
A multidisciplinary team, including pediatric pulmonologists, thoracic surgeons, organ transplantation specialists, and infectious disease experts, closely monitored the patient for potential complications. The patient benefited from enhanced recovery after surgery and was discharged 20 days post-transplantation. Rehabilitation therapy played a crucial role in her recovery. Post-operative pathological results confirmed chronic pulmonary interstitial fibrosis with destruction and collapse of pulmonary alveoli.
Long-Term Considerations and Limitations
While the short-term outcome of this case is promising, the long-term prognosis remains uncertain. Overall survival after lung transplantation is comparable between pediatric and adult recipients, with median survival of 5.4 and 5.9 years, respectively, for those who received transplantation between 1990 and 2015. Within the pediatric age group, post-transplantation survival is better for patients under 12 years old (median survival of 6.5 to 8.2 years) than for those aged 12 to 17 years (median survival of 4.8 years). Chronic lung allograft dysfunction (CLAD), manifested as bronchiolitis obliterans (BO), is the most common cause of graft failure and death beyond the first year post-transplantation. Retransplantation can significantly improve survival rates in pediatric patients with CLAD, with a 1-year survival rate of 91.7% and a 5-year survival rate of 80.2%.
Alternative Transplantation Approaches
This case involved cadaveric lung transplantation (CLT). However, living-donor lobar lung transplantation (LDLLT) has also been successfully used in pediatric lung transplantation. Between 1998 and 2015, 55 children underwent lung transplantation at nine centers in Japan, with only seven receiving CLT and the majority undergoing LDLLT. LDLLT is often the only realistic option for very ill patients, especially children.
Conclusion
Pediatric lung transplantation is a promising therapy for end-stage pulmonary disease in children, though it presents unique challenges, particularly in size matching and long-term outcomes. This case highlights the successful management of an 8-year-old girl with pulmonary interstitial fibrosis due to an SFTPC mutation, marking a significant milestone in pediatric lung transplantation in mainland China. Continuous efforts and advancements in this field are essential to improve outcomes and expand the availability of this life-saving procedure.
doi.org/10.1097/CM9.0000000000001053
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