PDF(Pubmed)
Abstract：
BACKGROUND: Congenital surfactant deficiency, often caused by mutations in genes involved in surfactant biosynthesis such as ABCA3, presents a significant challenge in neonatal care due to its severe respiratory manifestations. This study aims to analyze the clinical data of a newborn male diagnosed with pulmonary surfactant metabolism dysfunction type 3 resulting from ABCA3 gene mutations to provide insights into the management of this condition.
METHODS: A newly born male child aged 1 day and 3 hours was referred to our department due to poor crying and shortness of breath.
METHODS: Primary diagnoses by the duty physicians were: neonatal pneumonia, neonatal respiratory failure, persistent neonatal pulmonary hypertension, birth asphyxia, myocardial damage, and arteriovenous catheterization. Genetic test revealed a compound heterozygous variant in the ABCA3 gene. One allele may be exon variant c.4561C>T, the second allele may be intron variant c.1896 + 2_1896 + 17del. The associated disease included pulmonary surfactant metabolism dysfunction type 3.
METHODS: He was initially treated with an antiinfective therapeutic regimen.
RESULTS: The family was informed of this condition and signed off, and the child died.
CONCLUSIONS: Hereditary pulmonary surfactant deficiency is a rare and untreatable disease. The case highlights the challenges in managing congenital surfactant deficiencies and emphasizes the need for heightened awareness of this rare cause of infant respiratory failure.
METHODS: A newly born male child aged 1 day and 3 hours was referred to our department due to poor crying and shortness of breath.
METHODS: Primary diagnoses by the duty physicians were: neonatal pneumonia, neonatal respiratory failure, persistent neonatal pulmonary hypertension, birth asphyxia, myocardial damage, and arteriovenous catheterization. Genetic test revealed a compound heterozygous variant in the ABCA3 gene. One allele may be exon variant c.4561C>T, the second allele may be intron variant c.1896 + 2_1896 + 17del. The associated disease included pulmonary surfactant metabolism dysfunction type 3.
METHODS: He was initially treated with an antiinfective therapeutic regimen.
RESULTS: The family was informed of this condition and signed off, and the child died.
CONCLUSIONS: Hereditary pulmonary surfactant deficiency is a rare and untreatable disease. The case highlights the challenges in managing congenital surfactant deficiencies and emphasizes the need for heightened awareness of this rare cause of infant respiratory failure.
摘要：
背景：先天性表面活性剂缺乏症，通常由涉及表面活性剂生物合成的基因如ABCA3的突变引起，由于其严重的呼吸道表现，在新生儿护理中提出了重大挑战。本研究旨在分析一名被诊断为由ABCA3基因突变导致的3型肺表面活性物质代谢功能障碍的新生儿男性的临床数据，以提供对这种情况的管理的见解。
方法：一名1天零3小时的新生男童因哭闹和呼吸急促而被转诊至我科。
方法：值班医师的主要诊断为：新生儿肺炎，新生儿呼吸衰竭,新生儿持续肺动脉高压,出生窒息,心肌损伤,动静脉导管插入术.遗传测试揭示了ABCA3基因中的复合杂合变体。一个等位基因可能是外显子变异c.4561C>T，第二个等位基因可以是内含子变体c.1896+2_1896+17del。相关疾病包括3型肺表面活性物质代谢功能障碍。
方法：他最初接受抗感染治疗方案。
结果：家人被告知这种情况并签字，孩子死了.
结论：遗传性肺表面活性物质缺乏是一种罕见且无法治疗的疾病。该案例强调了管理先天性表面活性剂缺乏症的挑战，并强调需要提高对婴儿呼吸衰竭这一罕见原因的认识。
方法：一名1天零3小时的新生男童因哭闹和呼吸急促而被转诊至我科。
方法：值班医师的主要诊断为：新生儿肺炎，新生儿呼吸衰竭,新生儿持续肺动脉高压,出生窒息,心肌损伤,动静脉导管插入术.遗传测试揭示了ABCA3基因中的复合杂合变体。一个等位基因可能是外显子变异c.4561C>T，第二个等位基因可以是内含子变体c.1896+2_1896+17del。相关疾病包括3型肺表面活性物质代谢功能障碍。
方法：他最初接受抗感染治疗方案。
结果：家人被告知这种情况并签字，孩子死了.
结论：遗传性肺表面活性物质缺乏是一种罕见且无法治疗的疾病。该案例强调了管理先天性表面活性剂缺乏症的挑战，并强调需要提高对婴儿呼吸衰竭这一罕见原因的认识。
