Department of Pediatrics, Makassed General Hospital, Beirut, Lebanon.
Acta Paediatr. 2011 Nov;100(11):e234-5. doi: 10.1111/j.1651-2227.2011.02294.x. Epub 2011 Apr 25.
Pseudo-Bartter's (PB) syndrome characterized by hypokalemic metabolic alkalosis and persistent failure to thrive constitutes a rare typical presentation of cystic fibrosis (CF) with prevalence of 16.8%. We present a case of CF presenting with failure to thrive, dehydration, PB syndrome associated with chest infection and primo-colonization with Pseudomonas aeruginosa. Sweat chloride test was 102 mmol/L. DNA analysis identified 2 mutations 3849 + 1G>A (intron 19) and 4382delA (exon 24) present in heterozygous status. To the best of our knowledge, our case is the first reported case in the literature of CF manifested by PB syndrome associated with chest infection and primo-colonization with Pseudomonas aeruginosa.
The genotype 3849 + 1G>A/4382delA found in our patient is described for the first time in the literature. It explains the lung involvement with the dehydration and electrolyte disturbances. The role of the mutation in exon 24 in cases of CF with PB syndrome remains to be determined.
假性巴特氏（PB）综合征以低钾代谢性碱中毒和持续生长不良为特征，构成囊性纤维化（CF）的罕见典型表现，其患病率为 16.8%。我们报告了一例 CF 病例，表现为生长不良、脱水、与胸部感染相关的 PB 综合征以及铜绿假单胞菌的初次定植。汗液氯化物试验为 102mmol/L。DNA 分析确定存在杂合状态的 2 种突变 3849+1G>A（内含子 19）和 4382delA（外显子 24）。据我们所知，我们的病例是文献中首例报道的 CF 表现为与胸部感染和铜绿假单胞菌初次定植相关的 PB 综合征。
我们患者中发现的基因型 3849+1G>A/4382delA 首次在文献中描述。它解释了与脱水和电解质紊乱相关的肺部受累。外显子 24 突变在 PB 综合征合并 CF 病例中的作用仍有待确定。
