Surfactant Protein C Associated Disease (SP-C)

Disease due to mutations in the surfactant protein-C gene (SFTPC) on chromosome 8 results from an alteration in the structure of surfactant protein C and accumulation of this dysfuctional protein in lung cells. It is a dominant condition, meaning that a child only needs one copy of an abnormal gene to show symptoms. The mutation arises spontaneously in the child in about 55% of the cases or is inherited from one parent in the remainder of cases. This condition has a highly variable presentation, from acute respiratory distress to a more slow-onset and chronic lung disease. It can affect infants, children and adults. The diagnosis is made by genetic testing for a mutation in SFTPC in the child and both parents. Although several affected individuals can have the same mutation, the prognosis may be very different and thus very difficult to predict. Some patients require lung transplantation while others will improve with time.