Two mutations in surfactant protein C gene associated with neonatal respiratory distress.

Anna Tarocco,Silvia Fanaro,Giampaolo Garani,Elisa Ballardini,Maria Raffaella Contiero

doi:10.1155/2015/591783

Abstract

Multiple mutations of surfactant genes causing surfactant dysfunction have been described. Surfactant protein C (SP-C) deficiency is associated with variable clinical manifestations ranging from neonatal respiratory distress syndrome to lethal lung disease. We present an extremely low birth weight male infant with an unusual course of respiratory distress syndrome associated with two mutations in the SFTPC gene: C43-7G>A and 12T>A. He required mechanical ventilation for 26 days and was treated with 5 subsequent doses of surfactant with temporary and short-term efficacy. He was discharged at 37 weeks of postconceptional age without any respiratory support. During the first 16 months of life he developed five respiratory infections that did not require hospitalization. Conclusion. This mild course in our patient with two mutations is peculiar because the outcome in patients with a single SFTPC mutation is usually poor.

Highlights

Genetic disorders of lung surfactant proteins determine abnormal surfactant production and function
Surfactant protein C (SP-C) deficiency is associated with variable clinical manifestations ranging from neonatal respiratory distress syndrome to lethal lung disease
We present an extremely low birth weight male infant with an unusual course of respiratory distress syndrome associated with two mutations in the SFTPC gene: C43-7G>A and 12T>A

Summary

Introduction

Genetic disorders of lung surfactant proteins determine abnormal surfactant production and function. Several mutations of surfactant genes responsible for a wide range of phenotypical manifestations, from neonatal respiratory distress to adult chronic lung disease, have been described [1]. Pulmonary surfactant is composed of a lipid mixture and specific proteins. ABCA3 and SP-B are important to absorb surfactant phospholipids into specialized secretory organelles; SP-C and SP-B are required for absorption of the secreted phospholipids into the alveolar surface. SP-C deficiency is a rare autosomal dominant condition associated with interstitial lung disease in children and adults with a variable clinical course [2]

Case Report

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Discussion