Meconium thorax observed in a Chinese neonate with cystic fibrosis

• DOI: 10.1002/ppul.26443
• Publication Date: 2023-05-03T12:25:43Z
• Authors: Xiangmao Bu; Peng Sun; Yanzhen Wan
• Keywords: Meconium; Cystic Fibrosis; Infant, Newborn; East Asian People; Humans; 3. Good health

CF is considered a rare disease among the non-Caucasian population. The clinical phenotypes and genotypic spectrum of Chinese CF patients are reported to be different from that observed in Caucasians[(1)](#ref-0001). Our patient carried compound heterozygous mutations which are not included in the Caucasian CFTR common mutation-screening panel and have not been reported yet. CFTR dysfunction causes a spectrum of diseases, with a range in the number of organs involved and varying disease severity. Typical phenotypic features of CF include respiratory diseases (bronchiectasis with persistent airway-based infection and inflammation), gastrointestinal diseases (meconium ileus (MI)), hepatobiliary manifestations (pancreatic insufficiency), and male infertility[(2)](#ref-0002). Our patient presented severe manifestations, namely colonic perforation, meconium thorax, severe pneumonia, diaphragmatic defects-caused marked diaphragm elevation and respiratory failure. It’s difficult to ascertain whether the diaphragmatic defects in our patient is related to CF. MI is often the first manifestation of CF and occurs in approximately 20% of CF patients. CF should therefore be high in the differential diagnosis of any infant presenting with MI[(3)](#ref-0003).