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Neonatal Respiratory Dysfunction Caused by SFTPC Gene Mutation: a Case Report and Literature Review
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  • Weijie Yu,
  • Qiuying Hou,
  • Qinlai Ying,
  • Wen Zhu
Weijie Yu
The Second Hospital of Jiaxing
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Qiuying Hou
The Second Hospital of Jiaxing
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Qinlai Ying
The Second Hospital of Jiaxing
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Wen Zhu
The Second Hospital of Jiaxing
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Abstract

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).