PDF(Pubmed)
Abstract：
Wiedemann-Rautenstrauch Syndrome (WRS), also known as neonatal progeroid syndrome, is an extremely rare genetic syndrome characterized by a senile appearance at birth with multiple complex symptoms. We reported a case of a three-days old male neonate with features of WRS presented with fatal hyperkalemic renal failure which is a unique presentation not reported before in the cases affected with this syndrome. There is a positive family history of a previous sibling with the same features who suddenly died during the first week of life. This case report aimed to increase the awareness of WRS about the features and the importance of close follow-up of the affected cases, especially in the neonatal period among neonatal physicians.
摘要：
Wiedemann-Rautenstauch综合征（WRS），也被称为新生儿孕激素综合征，是一种极其罕见的遗传综合征，其特征是出生时出现多种复杂症状。我们报告了一例三天大的男性新生儿，其WRS特征表现为致命性高钾血症性肾功能衰竭，这是一种独特的表现，以前没有报道过这种综合征。有一个具有相同特征的前一个兄弟姐妹的积极家族史，他们在生命的第一周突然死亡。本病例报告旨在提高WRS对受影响病例的特征和密切随访重要性的认识，尤其是在新生儿医生中的新生儿期。
