Pediatrics |

Congenital Surfactant Deficiency: A New Mutation? FREE TO VIEW

Angela Webb, MD; Claudia Halaby, MD; Irene Sheer, MD; Melodi Pirzada, MD; Christina Valsamis, MD
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Winthrop University Hospital, Mineola, NY

Chest. 2014;146(4_MeetingAbstracts):714A. doi:10.1378/chest.1995004
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SESSION TITLE: Pediatric Cases

SESSION TYPE: Affiliate Case Report Slide

PRESENTED ON: Monday, October 27, 2014 at 03:15 PM - 04:15 PM

INTRODUCTION: Children's Interstitial Lung Diseases (chILD) are a heterogeneous group of rare disorders that produce considerable morbidity and mortality. Congenital surfactant deficiency has been associated with chILD. The most common identified genetic causes for surfactant protein metabolism deficiency involve mutations in the SFTPB, SFTPC or ABCA3. SFTPC is encoded by a single gene located on chromosome 8 (8p21.3). The first SFTPC mutation was described in 2001. To date, 13 mutations have been identified with the mutation I73T is the most prevalent. Other mutations have been described in only single families or as sporadic de novo mutations.

CASE PRESENTATION: A one month old full-term female presented to the ER with failure to thrive and difficulty feeding. In the ER, oxygen saturation was 75% during feeding. Physical exam was remarkable for intermittent tachypnea, nasal flaring, and retractions. Cardiac, metabolic, and neurological evaluations were normal. Swallow study revealed moderate dysphagia. Chest CT-scan showed diffuse ground glass opacities with cystic changes in the lung. Lung biopsy was consistent with chronic pneumonitis of infancy suggestive of congenital surfactant deficiency. Genetic studies revealed no known pathogenic mutations on surfactant protein B (SFTPB) and ATP-binding cassette transporter A3 (ABCA-3) genes. The SFTPC gene was heterozygous for p.V49A, a mutation which is of unknown clinical significance. The patient’s respiratory status continued to deteriorate. A tracheostomy was placed and mechanical ventilation was continued. Treatment with methylprednisolone pulses, hydroxychloroquine, and azithromycin was initiated. Patient was transferred to a lung transplantation center for further management and evaluation.

DISCUSSION: The phenotype associated with SFTPC mutation is variable. Our patient has significant ILD with a mutation variant of unknown significance; with limited and/or conflicting evidence regarding its pathogenicity. Establishing a genotype-phenotype association in this case may increase clinical evidence that better clarifies the relationship between the p.V49A mutation located on the SFTPC gene and ILD.

CONCLUSIONS: The SFTPC mutation found in this patient could be the cause of her ILD. This case may increase clinical evidence to consider this mutation variant likely pathogenic.

Reference #1: Deterding R. Infants and Young Children with Children's Interstitial Lung Disease. Pediatr Allergy, Immunology and Pulmonol 2010;23:1-6.

DISCLOSURE: The following authors have nothing to disclose: Angela Webb, Claudia Halaby, Irene Sheer, Melodi Pirzada, Christina Valsamis

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