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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.

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。

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