An Unusual Case of BSND Gene–Related (Type IV) Bartter Syndrome Presenting as Antenatal Bartter Syndrome:A Case Report and Review of Literature

Bartter syndrome is a group of autosomal recessive renal tubular disorders;it has two types of presentation:antenatal and classic.The antenatal type presents as severe unexplained polyhydramnios in the second trimester.This is due to fetal urinary losses of sodium,chloride,and potassium,leading to fetal polyuria.The classic type presents in the late neonatal or infancy stage,with dehydration,dyselectrolytemia,failure to thrive,and nephrocalcinosis.Antenatal scans are normal in such cases.Type I and II Bartter syndrome presents in the antenatal period,whereas type IV has a classic presentation.We describe an unusual case of type IVa Bartter syndrome presenting in the antenatal period,with severe polyhydramnios.The initial diagnosis was made based on amniotic fluid chloride levels and later confirmed by performing a genetic test.Genetic testing is important for confirming diagnosis and prognostication regarding the condition.

Rasmussen综合征

Rasmussen综合征是一种罕见的后天获得性进展性疾病,多起病于儿童期,以大脑半球损害引起的认知功能障碍,言语、运动功能丧失及难治性癫痫为特征。目前病因仍不明确,早期诊断困难,通常经过数月至数年的时间,发现进行性加重的临床表现和放射影像学证据后才开始考虑该病。患者药物治疗效果差,多种药物联合应用也难以控制癫痫发作,但外科大脑半球切除术能明显控制癫痫发作,术后60%的患者癫痫发作完全消失,手术不使肢体的运动功能障碍加重,并能阻止疾病的继续发展。

Bartter综合征8例临床分析

目的探讨Bartter综合征的临床诊断及治疗。方法对8例成人Bartter综合征的临床资料进行回顾性分析。结果8例成人Bartter综合征患者均表现为乏力,其特征为低血钾,代谢性碱中毒,血清肾素活性、血管紧张素Ⅱ及醛固酮水平升高,而血压正常,肾活检提示肾小球旁器细胞增生。补钾是主要治疗措施。结论成人出现双下肢乏力,低血钾,高尿钾而血压正常时需考虑到本病,行醛固酮检测可帮助诊断,必要时行肾穿刺活检。治疗上包括补钾、补镁、醛固酮拮抗剂、前列腺素合成酶抑制剂等。

非药物治疗儿童颈椎关节错位型多发性抽动症验案分析

目的:探讨多发性抽动症(TS)临床特点及诊疗方式,减少临床误诊、误治。方法:对我科接诊的1例诊断为多发性抽动症5年的患儿,根据“三步定位诊断”,采用非药物治疗,以推拿正骨治疗为主,针刺风池穴为辅。结果:患儿经过非药物治疗3次后,停服西药,抽动症状逐渐缓解,连续治疗3个疗程后,患儿未再出现头颈部、腹部不自主抽动,挤眉眨眼基本消失,颈椎X片复查报告示:双侧寰齿间隙对称。在整个治疗过程中,患儿未出现治疗抗拒,未出现不良反应,治疗效果确切。结论:部分诊断为小儿多发性抽动症,伴有明显跌倒、外伤史的患儿,需警惕脊椎关节错位,采用非药物治疗是关键。

Bartter综合征——附12例报道

回顾分析12例Bartter综合征患者的资料,结果儿童多以呕吐为首发症状,成人则乏力多见。其特征为低血钾,代谢性碱中毒,血肾素活性、血管紧张素Ⅱ及醛固酮水平升高,但血压正常,肾活检示肾小球旁器增生。补钾是主要治疗措施。