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儿童囊性纤维化以假性巴特综合征为首发表现:一个不容忽视的重要诊断。

Pseudo-Bartter syndrome as the initial presentation of cystic fibrosis in children: an important diagnosis not to be missed.

机构信息

Paediatric Department, Hospital do Espírito Santo de Évora, EPE, Évora, Portugal

Paediatric Department, Hospital do Espírito Santo de Évora, EPE, Évora, Portugal.

出版信息

BMJ Case Rep. 2024 Jan 31;17(1):e257348. doi: 10.1136/bcr-2023-257348.

Abstract

Pseudo-Bartter syndrome (PBS) is characterised by hyponatraemic, hypochloraemic metabolic alkalosis that mimics Bartter syndrome, without renal tubular disease. We present a case of an infant with a positive cystic fibrosis (CF) newborn screening, hospitalised during the summer with dehydration, oliguria and apathy. Blood analysis revealed hypochloraemic metabolic alkalosis, hypokalaemia and hyponatraemia. Urine analysis showed leucocyturia with reduced sodium and chloride excretion fraction, and urinary culture was positive for After antibiotherapy and intravenous rehydration with additional supplementation of sodium and chloride, the patient recovered completely. PBS is one of CF complications that is especially prevalent in infants and young children with increased sweating and/or other causes of additional loss of sodium and chloride. Clinical awareness of this syndrome and its strong clinical suspicion are extremely important for an early diagnosis and treatment of CF, particularly in countries where the universal screening of CF is not routinely performed.

摘要

假性巴特综合征(PBS)的特征是低钠血症、低氯血症代谢性碱中毒,类似于巴特综合征,但无肾小管疾病。我们报告了一例囊性纤维化(CF)新生儿筛查阳性的婴儿,在夏季因脱水、少尿和精神萎靡而住院。血液分析显示低氯血症代谢性碱中毒、低钾血症和低钠血症。尿液分析显示白细胞尿,钠和氯排泄分数降低,尿培养阳性。经抗生素治疗和静脉补液补充钠和氯后,患者完全康复。PBS 是 CF 的并发症之一,尤其在多汗症和/或其他导致钠和氯额外丢失的婴幼儿中更为常见。对这种综合征的临床认识及其强烈的临床怀疑对于早期诊断和治疗 CF 非常重要,特别是在没有常规进行 CF 普遍筛查的国家。

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