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首页> 外文期刊>Journal of Medical Case Reports >Bardet-Biedl syndrome with end-stage kidney disease in a four-year-old Romanian boy: a case report
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Bardet-Biedl syndrome with end-stage kidney disease in a four-year-old Romanian boy: a case report

机译：一名四岁罗马尼亚男孩患有末期肾脏疾病的Bardet-Biedl综合征：病例报告

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Background Bardet-Biedl syndrome is a significant genetic cause of chronic kidney disease in children. Kidney abnormalities are a major cause of morbidity and mortality in Bardet-Biedl syndrome, but the onset of end-stage renal disease at an early age and continuous ambulatory peritoneal dialysis, however, are not commonly mentioned in the literature. Case presentation We present the case of a four-year-old Romanian boy who presented to our department with 'febrile seizures'. After an initial evaluation, we diagnosed our patient as having hypertension, severe anemia and end-stage renal disease. He met the major and minor criteria for the diagnosis of Bardet-Biedl syndrome and underwent continuous ambulatory peritoneal dialysis. Conclusions Close follow-up for renal involvement in patients with Bardet-Biedl syndrome and Alstr?m syndrome from an early age is highly recommended to prevent end-stage renal disease and so renal replacement therapy can be started immediately.
机译：背景技术Bardet-Biedl综合征是儿童慢性肾脏疾病的重要遗传原因。肾脏异常是Bardet-Biedl综合征发病率和死亡率的主要原因，但是在文献中通常没有提及早年终末期肾脏疾病的发作和持续的非卧床腹膜透析。案例介绍我们介绍了一个四岁的罗马尼亚男孩的案例，该男孩因“高热惊厥”来到我们部门。经过初步评估，我们诊断出患者患有高血压，严重贫血和终末期肾脏疾病。他符合诊断Bardet-Biedl综合征的主要和次要标准，并接受了持续的非卧床腹膜透析。结论强烈建议从小就对Bardet-Biedl综合征和Alstr？m综合征的肾脏病患者进行早期随访，以预防终末期肾脏疾病，因此可以立即开始肾脏替代治疗。

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