PDF(Pubmed)
Abstract：
Antenatal Bartter syndrome is a rare condition that affects approximately 1.2 individuals per million. It is caused by renal tubular dysfunction that impairs the reabsorption of sodium and chloride. This results in various symptoms such as polyuria, vomiting, dehydration, and failure to thrive. Because of its low prevalence, diagnosing this disorder can be challenging for medical professionals. In this report, we describe a rare case of a 3-month-old female infant who had symptoms of Bartter syndrome, such as severe hypotension, facial flattening, cough, and seizures. She also had the typical features of the condition, except for prematurity and hypercalciuria, which were not present. In this case, we highlight the importance of regular follow-ups and monitoring of patients with dehydration and electrolyte imbalances, as these can lead to complications in Bartter syndrome. Early intervention and close monitoring can enhance patient outcomes and avoid complications.
摘要：
产前巴特综合征是一种罕见的疾病，每百万人中约有1.2人受到影响。它是由肾小管功能障碍引起的，损害了钠和氯的重吸收。这会导致各种症状，如多尿，呕吐,脱水,未能茁壮成长。由于其患病率低，诊断这种疾病可能是医疗专业人员的挑战。在这份报告中,我们描述了一个3个月大的女婴有Bartter综合征症状的罕见病例，比如严重的低血压,面部扁平化，咳嗽,和癫痫发作。她也有这种情况的典型特征，除了早产和高钙尿症,不存在的。在这种情况下,我们强调定期随访和监测脱水和电解质失衡患者的重要性，因为这些会导致Bartter综合征的并发症.早期干预和密切监测可以提高患者预后并避免并发症。
