Onset of cataract in early infancy associated with a 32G→C transition in the iron responsive element of L-ferritin
Onset of cataract in early infancy associated with a 32G→C transition in the iron responsive element of L-ferritin
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DOI：
10.1007/s00431-002-1019-4
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发表时间：
2002-09-01
影响因子：
3.6
通讯作者：
Ramenghi, U
中科院分区：
文献类型：
--
作者：
Campagnoli, MF;Pimazzoni, R;Ramenghi, U
我们描述了一个遗传性高铁蛋白血症-白内障综合征家族在婴儿早期发生白内障的病例。两名先证者出现孤立性高铁蛋白血症，并在18个月大时患上白内障。他们家族中的两名成员铁蛋白水平高（1270-1450 mug/l），从小就患有白内障。突变的原因是L-铁蛋白亚基基因的铁反应元件的茎结构的侧向凸起中的32 G->C改变。该水平的突变导致特别高的铁蛋白水平，而白内障发病年龄及其严重程度是有争议的主题。在我们家族中，早期眼科检查排除了白内障是由于透镜中与年龄相关的持续高铁蛋白水平所致的可能性，并提示其他因素可能调节表型。结论，白内障可能在遗传性高铁蛋白血症-白内障综合征早期出现，应怀疑该综合征，并在所有儿童白内障病例中测量铁蛋白水平，即使在婴儿早期发病。
We describe the onset of cataract in early infancy in a family with hereditary hyperferritinaemia-cataract syndrome. The two probands presented with isolated hyperferritinaemia and had developed cataracts at the age of 18 months. Two members of their family with high ferritin levels (1270-1450 mug/l) had suffered from cataract since childhood. The mutation responsible was a 32G-->C change in the lateral bulge of the stem structure of the iron responsive element of the L-ferritin subunit gene. Mutations at this level cause particularly high ferritin levels, whereas the age of cataract onset and its severity are controversial subjects. In our family, early ophthalmic examination ruled out the possibility that cataract was due to age-related persistence of high ferritin levels in the lens and suggested that other factors may modulate the phenotype. Conclusion., cataract may appear early in hereditary hyperferritinaemia-cataract syndrome and this syndrome should be suspected and ferritin levels measured in all cases of cataract in children, even when the onset is in early infancy.