Ampuero Acuña Camila, Tomarelli Rubio Gianfranco, Montes Franceschini Soledad, Donoso Fuentes Alejandro
Hospital Clínico Dra. Eloísa Díaz I., Santiago, Chile.
Andes Pediatr. 2022 Feb;93(1):110-116. doi: 10.32641/andespediatr.v93i1.3766. Epub 2022 Mar 29.
In the pediatric emergency department, dehydrated children are one of the most frequent causes for consultation, however, the coexistence of hyponatremia with hypochloremia and metabolic alkalosis is rare. The presence of metabolic alkalosis due to chloride depletion has been reported as a form of presentation of Cystic Fibrosis (CF).
to describe a case of cystic fibrosis of unusual presen tation in a pediatric patient.
we report a 3-month-old previously healthy male infant who presented with internal environment abnormalities consisting of metabolic alkalosis, hypona tremia, hypokalemia, and extreme hypochloremia associated with septic shock due to mixed viral- bacterial pneumonia (Rhino/enterovirus, Streptococcus pneumoniae, and Staphylococcus aureus). Cys tic fibrosis (CF) was suspected, thus the diagnosis was corroborated by sweat test and genetic study which showed the pathogenic variants c.2834C>T (p.Ser945Leu) and c.3484C>T (p.Arg1162X), both heterozygous.
special attention should be paid to the existence of hypochloremia with metabolic alkalosis and hyponatremia associated or not with pulmonary disease, suspecting CF as the first option. This consideration becomes more relevant in those countries where the neonatal screening test is not widely available.
在儿科急诊科，脱水儿童是最常见的就诊原因之一，然而，低钠血症合并低氯血症和代谢性碱中毒的情况很少见。因氯化物缺乏导致的代谢性碱中毒已被报道为囊性纤维化（CF）的一种表现形式。
描述一例儿科患者中表现不寻常的囊性纤维化病例。
我们报告一名3个月大、此前健康的男婴，其出现了内环境异常，包括代谢性碱中毒、低钠血症、低钾血症和极度低氯血症，并伴有由混合性病毒-细菌性肺炎（鼻病毒/肠道病毒、肺炎链球菌和金黄色葡萄球菌）引起的感染性休克。怀疑患有囊性纤维化（CF），因此通过汗液试验和基因研究证实了诊断，结果显示存在致病性变异c.2834C>T（p.Ser945Leu）和c.3484C>T（p.Arg1162X），均为杂合子。
应特别关注是否存在伴有或不伴有肺部疾病的低氯血症合并代谢性碱中毒和低钠血症，首先怀疑为CF。在那些新生儿筛查试验未广泛开展的国家，这种考虑更为重要。
