一个患有遗传性高铁蛋白血症白内障综合征的新家族。
A new family with hereditary hyperferritinemia cataract syndrome.
作者信息
Tuysuz G, Ozdemir N, Sonmez E, Kannengiesser C, Celkan T
机构信息
Istanbul University, Cerrahpasa Medical Faculty, Pediatric Hematology Oncology Dept, Istanbul, Turkey.
Istanbul University, Cerrahpasa Medical Faculty, Department of Pediatrics, Istanbul, Turkey.
出版信息
Genet Couns. 2013;24(4):393-7.
Hereditary hyperferritinemia cataract syndrome (HHCS) is a rare disorder with an autosomal dominant trait. The disease is defined with early onset cataract and hyperferritinemia without iron overload. Here, we report a new family with three affected members of this syndrome where the proband presented with high ferritin levels. Patients with unexplained high ferritin levels and/or juvenile onset cataract must be evaluated carefully for hereditary hyperferritinemia cataract syndrome.
遗传性高铁蛋白血症白内障综合征（HHCS）是一种具有常染色体显性特征的罕见疾病。该疾病的定义为早发性白内障和高铁蛋白血症且无铁过载。在此，我们报告一个患有该综合征的新家族，其中有三名患病成员，先证者表现出高铁蛋白水平。对于不明原因的高铁蛋白水平升高和/或青少年期白内障患者，必须仔细评估是否患有遗传性高铁蛋白血症白内障综合征。
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