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首页> 外文期刊>Journal of Clinical and Diagnostic Research >The Senior-Loken syndrome: Two cases from the State of Qatar
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The Senior-Loken syndrome: Two cases from the State of Qatar

机译:高级乐综合症:卡塔尔州的两个案例

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We are describing two sisters with the rare Senior-Loken syndrome, which is a combination of familial juvenile nephronophthisis and retinal dystrophy. The earliest presenting features include an impaired urinary concentrating ability, leading to polyuria and polydipsia and these are associated with visual impairment. The two patients had blindness shortly after their births. They presented to us with evidence of chronic kidney disease (CKD) in their teens, that required the initiation of the renal replacement therapy. We are reporting these two cases, as this was the first occurrence of this condition in the State of Qatar.
机译:我们正在描述两个姐妹,患有罕见的老年性综合症,该综合症是家族性少年性肾病和视网膜营养不良的结合。最早出现的特征包括尿液浓缩能力受损,导致多尿和多饮,这与视力障碍有关。两名患者出生后不久便失明。他们向我们展示了十几岁的慢性肾脏疾病(CKD)的证据,这需要开始肾脏替代治疗。我们正在报告这两种情况,因为这是在卡塔尔州首次发生这种情况。

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