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一种临床表现常见的罕见疾病:新生儿巴特综合征。

A Rare Disorder with Common Clinical Presentation: Neonatal Bartter Syndrome.

作者信息

Hussain Shabbir, Tarar Saba Haider, Al-Muhaizae Muhammad

机构信息

Department of Paediatrics, Combined Military Hospital, Kharian.

Department of Neurosciences, King Faisal Specialist Hospital and RC, Saudi Arabia.

出版信息

J Coll Physicians Surg Pak. 2015 Apr;25 Suppl 1:S58-60.

PMID:25933468
Abstract

Bartter syndrome is an autosomal recessive renal tubulopathy that presents with hypokalemic, hypochloremic metabolic alkalosis associated with increased urinary loss of sodium, potassium, calcium and chloride. There is hyperreninemia and hyperaldosteronemia but normotension. A full term male neonate was referred at 20-day of age with features of sepsis and respiratory distress. He was evaluated and managed as case of septicemia with all supportive paraphernalia including mechanical ventilation. Investigations revealed electrolytes imbalance and metabolic alkalosis suggestive of Neonatal Bartter Syndrome (NBS). Raised aldosterone and renin levels confirmed the diagnosis. Electrolyte imbalance was corrected with fluids and indomethacin, treated successfully, discharged and parents counseled. He was thriving well at 9 months of age. Another 2 months old male baby presented with recurrent episodes of lethargy with dehydration and failure to gain weight. Investigations confirmed the diagnosis of NBS. He was also successfully treated with same medication. We report these 2 cases because of the rarity of NBS, presentation of which may mimic common illnesses like sepsis and gastroenteritis.

摘要

巴特综合征是一种常染色体隐性遗传性肾小管病,表现为低钾血症、低氯血症性代谢性碱中毒,伴有尿钠、钾、钙和氯排泄增加。存在高肾素血症和高醛固酮血症,但血压正常。一名足月男婴在20日龄时因败血症和呼吸窘迫症状被转诊。他接受了评估,并作为败血症病例进行管理,采用了包括机械通气在内的所有支持性措施。检查发现电解质失衡和代谢性碱中毒,提示新生儿巴特综合征(NBS)。醛固酮和肾素水平升高确诊了该诊断。通过补液和吲哚美辛纠正了电解质失衡,治疗成功,患儿出院,并对家长进行了咨询。他在9个月大时发育良好。另一名2个月大的男婴出现反复发作的嗜睡伴脱水和体重不增。检查确诊为NBS。他也用同样的药物成功治疗。我们报告这2例病例是因为NBS罕见,其表现可能类似败血症和肠胃炎等常见疾病。

相似文献

1
A Rare Disorder with Common Clinical Presentation: Neonatal Bartter Syndrome.一种临床表现常见的罕见疾病:新生儿巴特综合征。
J Coll Physicians Surg Pak. 2015 Apr;25 Suppl 1:S58-60.
2
Neonatal Bartter syndrome.新生儿巴特综合征
J Coll Physicians Surg Pak. 2006 Aug;16(8):548-50.
3
Neonatal Bartter Syndrome in association with congenital adrenal hyperplasia in a neonate - a rare combination.新生儿巴特综合征合并先天性肾上腺皮质增生症——一种罕见的组合。
J Pak Med Assoc. 2016 May;66(5):612-4.
4
Antenatal Bartter syndrome.产前巴特综合征
J Coll Physicians Surg Pak. 2014 May;24 Suppl 2:S121-3.
5
Bartter syndrome presenting as poor weight gain and abdominal mass in an infant.一名婴儿表现为体重增加不佳和腹部肿块的巴特综合征。
Fetal Pediatr Pathol. 2008;27(4-5):232-43. doi: 10.1080/15513810802216010.
6
Case of Bartter syndrome presenting with hypokalemic periodic paralysis.以低钾性周期性麻痹为表现的巴特综合征病例。
J Child Neurol. 2006 Mar;21(3):255-6. doi: 10.2310/7010.2006.00049.
7
Classic Bartter syndrome: a rare cause of failure to thrive in a child.经典型巴特综合征:儿童生长发育迟缓的罕见病因。
BMJ Case Rep. 2012 Jun 28;2012:bcr0220125888. doi: 10.1136/bcr.02.2012.5888.
8
Two neonates with Bartter syndrome.
J Pak Med Assoc. 2018 Nov;68(11):1721-1723.
9
[Bartter syndrome: a new therapeutic approach].[巴特综合征:一种新的治疗方法]
Acta Med Port. 2011 Dec;24 Suppl 3:671-4. Epub 2011 Dec 31.
10
[Neonatal Bartter syndrome's special features in very premature newborns].[极低出生体重早产儿的新生儿巴特综合征的特殊特征]
Arch Pediatr. 2009 Jan;16(1):23-6. doi: 10.1016/j.arcped.2008.10.006. Epub 2008 Nov 26.

引用本文的文献

1
Bartter Syndrome: A Systematic Review of Case Reports and Case Series.巴特综合征:病例报告和病例系列的系统评价。
Medicina (Kaunas). 2023 Sep 11;59(9):1638. doi: 10.3390/medicina59091638.