(From the September 2015 Issue of PediatricsOnline)
Pulmonary surfactant disorders, or surfactant metabolism dysfunction, are characterized by insufficient production of surfactant for adequate respiration. The disorder has a genetic basis related to surfactant metabolism. In the following case study, we look at two patients with ABCA3 surfactant deficiency treated by the Advanced Lung Disease Program in the Section of Pulmonology at Nationwide Children’s Hospital. For both of these patients, a novel monthly corticosteroid infusion has resulted in either stabilization of lung function or de-listing for lung transplant.
Download a PDF of the Case Study.
In the case of ABCA3 deficiency, an autosomal recessive condition, symptoms of interstitial lung disease may be present at birth or become apparent as the child ages. There are cases of adults who are diagnosed with interstitial lung disease – many are misdiagnosed with asthma during childhood. Prognosis is variable depending on the severity of the disease and can be difficult to predict given the rarity of the disorder and the novelty of medical treatments. In severe cases, a lung transplant is needed for survival. Since 2011, the most common indication for lung transplantation for infants at Nationwide Children’s is surfactant deficiencies.
While many different genetic mutations are associated with ABCA3 surfactant disorder, there currently are no mutationspecific treatments. Additionally, patients may have the genetic mutations but never exhibit symptoms of true disease.
Below, we describe two patients with different presentations of ABCA3 surfactant disorder. Both patients have benefited from a treatment regimen that included monthly corticosteroid infusions and daily oral medications.
Repeat chest CT scans three months after starting the treatment regimen showed a degree of improvement with less mosaic attenuation and groundglass opacities.
Although it is uncertain how this patient will continue to respond to this therapy over time, it is promising that her pulmonary function and CT scan have stabilized. Lung transplantation remains a treatment option based on the clinical course of this patient, but the hope is that transplantation will not be needed for many years into the future.
The patient’s respiratory status stabilized soon after starting the treatment regimen, so he was moved to an inactive status on the lung transplant list. Although requiring chronic mechanical ventilation via tracheotomy, he was discharged home at 10 months of age and remains there with family and is doing well on the same treatment regimen. At present, he is being weaned from mechanical ventilation.
Normally, this patient would have received a transplant or died awaiting one. However, with the treatment regimen developed at Nationwide Children’s, transplantation has been delayed. Lung transplantation remains a treatment option for this child as well, so he continues to be monitored closely by our comprehensive team.
Tiffany L. Turner, MD, is a member of the Section of Pediatric Pulmonary Medicine at Nationwide Children’s Hospital and an assistant professor of Pediatrics at The Ohio State University College of Medicine. She is trained and board-certified in pediatric pulmonology. Her clinical interests include interstitial lung diseases, asthma, cystic fibrosis and performing bronchoscopies to evaluate upper and lower airway conditions.
Don Hayes, MD, MS, MEd, is the medical director of the Advanced Lung Disease Program at Nationwide Children’s, as well as the medical director of the Lung and Heart-Lung Transplant Programs. He is also director of the Artificial Lung & ECMO Research Laboratory and associate professor at The Ohio State University College of Medicine. His clinical interests include supporting or bridging patients with severely advanced lung disease to lung transplant with artificial lung technology such as ECMO. He also leads research efforts to further advance treatment of patients with severe lung disease.