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幼儿生长发育迟缓的一种不寻常表现:巴特综合征。

An Unusual Presentation of Failure to Thrive in a Toddler: Bartter Syndrome.

作者信息

R Akshai, Upendra Bhatia Sakshi, Narayan Kishore, Mohammed Syed, Yelkur Pallavi

机构信息

Paediatrics, Saveetha Medical College and Hospital, Saveetha Institute of Medical and Technical Sciences, Saveetha University, Chennai, IND.

出版信息

Cureus. 2024 Aug 20;16(8):e67289. doi: 10.7759/cureus.67289. eCollection 2024 Aug.

Abstract

Bartter syndrome is a rare salt-wasting renal tubular disorder of autosomal-recessive inheritance. Antenatal Bartter syndrome (types I, II, and IV) manifests in infancy and has a more severe course compared to the classic Bartter syndrome (type III). This report details a unique instance of a male toddler, aged 18 months, who presented with failure to thrive, polydipsia, and polyuria. Blood gases revealed hypochloremic metabolic alkalosis with hyponatremia and hypokalemia. The diagnosis was confirmed by genetic testing, and the child was started on indomethacin and potassium supplementation. Despite being rare in children, this case report emphasizes the importance of looking beyond the usual in a child who presents with failure to thrive to prevent a delay in the diagnosis and treatment.

摘要

巴特综合征是一种罕见的常染色体隐性遗传的失盐性肾小管疾病。产前巴特综合征(I型、II型和IV型)在婴儿期出现,与经典巴特综合征(III型)相比病程更严重。本报告详细介绍了一名18个月大男童的独特病例,该患儿出现生长发育迟缓、烦渴和多尿症状。血气分析显示低氯性代谢性碱中毒伴低钠血症和低钾血症。基因检测确诊了该疾病,患儿开始服用吲哚美辛并补充钾。尽管该病例在儿童中较为罕见,但本病例报告强调了对于生长发育迟缓的儿童,不能局限于常见情况进行诊断,以免延误诊断和治疗。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b95f/11411574/7de26a8a4e2f/cureus-0016-00000067289-i01.jpg

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