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本文引用的文献

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Cystic Fibrosis Presenting as Pseudo-Bartter Syndrome: An Important Diagnosis that is Missed!囊性纤维化表现为假性巴特综合征:一个被忽视的重要诊断!
Indian J Pediatr. 2020 Sep;87(9):726-732. doi: 10.1007/s12098-020-03342-8. Epub 2020 Jun 5.
2
Clinical features and accompanying findings of Pseudo-Bartter Syndrome in cystic fibrosis.囊性纤维化中假性巴特综合征的临床特征及伴随发现。
Pediatr Pulmonol. 2020 Aug;55(8):2011-2016. doi: 10.1002/ppul.24805. Epub 2020 May 4.
3
Pseudo-Bartter syndrome in children with cystic fibrosis.囊性纤维化患儿的假性巴特综合征
Clin Case Rep. 2019 Apr 29;7(6):1123-1126. doi: 10.1002/ccr3.2180. eCollection 2019 Jun.
4
[Pseudo-Bartter syndrome as manifestation of cystic fibrosis with DF508 mutation].[以DF508突变为表现的囊性纤维化所致假性巴特综合征]
Bol Med Hosp Infant Mex. 2016 Sep-Oct;73(5):331-334. doi: 10.1016/j.bmhimx.2016.04.004. Epub 2016 Sep 17.
5
ESPEN-ESPGHAN-ECFS guidelines on nutrition care for infants, children, and adults with cystic fibrosis.欧洲临床营养与代谢学会(ESPEN)、欧洲儿科胃肠病学、肝病学和营养学会(ESPGHAN)以及欧洲囊性纤维化协会(ECFS)关于囊性纤维化婴儿、儿童和成人营养护理的指南。
Clin Nutr. 2016 Jun;35(3):557-77. doi: 10.1016/j.clnu.2016.03.004. Epub 2016 Mar 15.
6
Pseudo-Bartter's Syndrome in Patients with Cystic Fibrosis: A Case Series and Review of the Literature.囊性纤维化患者的假性巴特综合征:病例系列及文献综述
Srp Arh Celok Lek. 2015 Nov-Dec;143(11-12):748-51. doi: 10.2298/sarh1512748v.
7
Episodic seasonal Pseudo-Bartter syndrome in cystic fibrosis.囊性纤维化中的阵发性季节性假性巴特综合征。
Paediatr Respir Rev. 2014 Jun;15 Suppl 1:19-21. doi: 10.1016/j.prrv.2014.04.015. Epub 2014 May 10.
8
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.定义囊性纤维化跨膜电导调节因子基因变异的疾病责任。
Nat Genet. 2013 Oct;45(10):1160-7. doi: 10.1038/ng.2745. Epub 2013 Aug 25.
9
Pseudo-bartter syndrome, pattern and correlation with other cystic fibrosis features.假性巴特综合征、模式及其与其他囊性纤维化特征的相关性。
Saudi J Kidney Dis Transpl. 2013 Mar;24(2):292-6. doi: 10.4103/1319-2442.109579.
10
Pseudo-Bartter as an initial presentation of cystic fibrosis. A case report and review of the literature.假性巴特综合征作为囊性纤维化的首发表现。一例病例报告及文献复习。
East Mediterr Health J. 2010 Jun;16(6):699-701.

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.

DOI:10.1136/bcr-2023-257348
PMID:38296503
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10831455/
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。