背景技术巴特综合征是一种罕见的,遗传性盐消耗性肾小管病由6个基因中的1个突变引起,这些基因在肾单位的粗大上升肢体中表达离子转运通道。过量的前列腺素E2和相关的高肾素血症醛固酮增多症发生,导致羊水过多,多尿,早产,未能茁壮成长,和特征性的物理特征。低钾血症,低氯血症代谢性碱中毒,and,取决于受影响的基因,高钙尿症和肾钙质沉着是巴特综合征的标志。案例报告一名9个月大的男婴,羊水过多导致早产,在急诊科就诊,因不可强迫呕吐和明显的多尿而脱水。由于身材矮小,明显的多饮和多尿,一名6岁男婴因羊水过多而有早产史,被转诊至小儿内分泌科。考虑到这些明显的症状,两例病例均引发怀疑,并开始对精氨酸加压素功能不全/抵抗进行检查.然而,在调查过程中,更广泛的临床修订显示,两者都有畸形的身体特征(三角形面部,突出的前额,突出的耳朵,下垂的嘴),增长不佳,体重增加受损,和典型的生化发现(低钾血症代谢性碱中毒,高钙尿症,继发性醛固酮增多症)巴特综合征。基因检测分别证实了1型和2型Bartter综合征的诊断,这种诊断允许适当的治疗和显著的临床改善,个性化跟进,以及为希望进一步健康怀孕的父母提供遗传咨询。这里的结论,我们介绍了2例Bartter综合征1型和2型患者的临床和随访结果,这些患者是在对疑似精氨酸加压素功能不全/耐药进行更广泛的临床修订后发现的.我们还回顾了有关这种具有挑战性的综合征的诊断和管理的相关数据。
BACKGROUND Bartter syndrome is a rare, inherited salt-wasting tubulopathy caused by mutations in 1 of 6 genes that express ion transport channels in the thick ascending limb of nephrons. Excessive prostaglandin E2 and associated hyperreninemic hyperaldosteronism occurs, causing polyhydramnios, polyuria, prematurity, failure to thrive, and characteristic physical features. Hypokalemia, hypochloremic metabolic alkalosis, and, depending on the affected gene, hypercalciuria and nephrocalcinosis are hallmarks of Bartter syndrome. CASE REPORT A 9-month-old male infant, born prematurely due to polyhydramnios, presented in the Emergency Department with dehydration due to incoercible vomiting and significant polyuria. A 6-year-old male infant with a previous history of prematurity due to polyhydramnios was referred to the Pediatric Endocrinology Department due to short stature and notable polydipsia and polyuria. Considering these marked symptoms, both cases triggered suspicion and started workup for arginine-vasopressin insufficiency/resistance. However, during the investigations, a broader clinical revision revealed that both had dysmorphic physical features (triangularly shaped face, prominent forehead, protruding ears, drooping mouth), poor growth, impaired weight gain, and typical biochemical findings (hypokalemic metabolic alkalosis, hypercalciuria, secondary hyperaldosteronism) of Bartter syndrome. Genetic testing confirmed the diagnosis of Bartter syndrome types 1 and type 2, respectively, and this diagnosis allowed proper treatment and significant clinical improvements, personalized follow-up, and genetic counseling for parents desiring further healthy pregnancies. CONCLUSIONS Here, we present clinical and follow-up findings of 2 patients with Bartter syndrome types 1 and 2 discovered upon a broader clinical revision of suspected arginine-vasopressin insufficiency/resistance. We also review pertinent data on diagnosis and management of this challenging syndrome.