Neonatal Respiratory Dysfunction Caused by SFTPC Gene Mutation: a Case
Report and Literature Review
Background: In this article, we present the case of a newborn with
respiratory insufficiency caused by SFTPC gene mutation. We summarized
and analyzed the clinical, chest imaging and gene test data of the case,
and reviewed related literature. Case presentation: Case data: female
infant, 6 hours with dyspnea. Physical examination on admission showed
three concave signs, no rales or dryness in both lungs. Multiple chest
radiographs indicated that the brightness of the two lungs gradually
decreased, and chest CT indicated diffuse lung lesions. Sp-related gene
detection indicated that SFTPC was newly mutated due to c.563t
> c (p.l188p). Literature reported six similar cases: 1)
SFTPC gene c.68G > G/A, p.r23q heterozygosity missense
mutation, 2) SFTPC gene c.115G > G/T, p.v39l heterozygosity
missense mutation, 3) c.203T >a, p. Val68asp mutation, 4)
c.435G> c mutation, 5) Cys121Phe/C121F mutation, and 6) p.
Cp121gly /C121G mutation. All these cases developed severe neonatal
respiratory distress syndrome shortly after birth, and there are no
reports consistent with the gene loci and manifestations of this case.
Conclusion: The mutation of SFTPC gene can cause early respiratory
insufficiency and lead to progressive exacerbation of respiratory
failure. We report a newly mutated SFTPC gene due to c.563t
> c (p.l188p).