ObjectiveTo investigate the clinical manifestations and genotypic characteristics of Chinese cystic fibrosis (CF) children with pseudo-Bartter syndrome (PBS). MethodsThe clinical manifestations and genotypic characteristics of a CF child with PBS were retrospectively analyzed, and the literature of relevant Chinese case reports was reviewed. Results(1)A 6-month-old boy developed recurrent pneumonia with hyponatremia, hypokalemia and hypochloremia 2 months after birth, with gene compound heterozygous mutations of CF transmembrane conduction regulator (CFTR) (c.1210-3C>G/c.1064C>G) and a sweat Cl- concentration of 103 mmol/L. (2)A total of 12 articles were retrieved in CNKI, Wanfang Database and PubMed, reporting 27 Chinese CF patients with PBS, and there were 28 patients in total if added this case. Most patients had respiratory and/or gastrointestinal symptoms. The pathogens found in patients′ respiratory tracts were mainly Pseudomonas aeruginosa and Staphylococcus aureus (71.4% and 50.0%, respectively). The chemical analysis results of all patients showed hyponatremia, hypochloremia, and hypokalemia. A total of 19 patients underwent a sweat chlorine test, and the average sweat Cl- concentration was 114.9 mmol/L. A total of 34 CFTR gene mutation types were found, among which c.2909G>A was the most common mutation type. There were 15 novel gene mutation types, including c.1373G>A, c.1526G>C, c.3062C>T, c.1423delC, c.1210-3C>G, c.1064C>G, c.3964-7A>G, c.262_266delTTATA, c.3859delG, c.1733T>C, c.3068T> G、ΔE23（c.3718-?_3873+?del）、c.2236_2246delGAGGCGATACTinsAAAAATC、c.579+2insACAT、c.3635delT. ConclusionPBS is one of clinical manifestations of CF, clinicians need to deepen their understanding of CF, especially for children with electrolyte disturbance caused by increased sweating and/or other reasons, the sweat chloride test and even gene test should be performed in time to clarify the diagnosis and prevent missed diagnosis.

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