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首页> 外文期刊>Amyloid: the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis >Clinical characteristics and SAP scintigraphic findings in 10 patients with AGel amyloidosis
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Clinical characteristics and SAP scintigraphic findings in 10 patients with AGel amyloidosis

机译：10例AGel淀粉样变性病的临床特征和SAP闪烁显像

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摘要

The clinical features of hereditary gelsolin (AGel) amyloidosis include corneal lattice dystrophy, distal sensorimotor, cranial neuropathy and cutis laxa. To date, four mutations of the gelsolin (GSN) gene encoding the following variants have been identified as the cause of this malady; p.D214N, p.D214Y, p.G194R and p.N211K (this nomenclature includes the 27-residue signal peptide). Interestingly, the latter two variants are associated exclusively with a renal amyloidosis phenotype. Here we report the clinical features in 10 patients with AGel amyloidosis associated with the p.D214N mutation, all of whom underwent whole body I-123-SAP scintigraphy and were followed up in a single UK Centre for a prolonged period. Two patients, from the same kindred presented with proteinuria; eight subjects had a characteristic AGel amyloidosis phenotype including cranial neuropathy and/or corneal lattice dystrophy. I-123-SAP scintigraphy revealed substantial renal amyloid deposits in all 10 patients, including those with preserved renal function, and usually without tracer uptake into other visceral organs. I-123-SAP scintigraphy is a non-invasive technique that aids early diagnosis of patients with this rare disease, especially those who lack a family history and/or present with an unusual clinical phenotype.
机译：遗传性凝溶胶蛋白（AGel）淀粉样变性的临床特征包括角膜晶状体营养不良，远端感觉运动，颅神经病和角质层松弛。迄今为止，已经确定了编码下列变体的凝溶胶蛋白（GSN）基因的四个突变是造成这种疾病的原因。 p.D214N，p.D214Y，p.G194R和p.N211K（此命名法包括27个残基的信号肽）。有趣的是，后两个变体仅与肾脏淀粉样变性表型有关。在这里，我们报告了10例与p.D214N突变相关的AGel淀粉样变性患者的临床特征，所有这些患者均接受了全身I-123-SAP闪烁显像，并在单个UK中心进行了长期随访。来自同一家族的两名患者出现蛋白尿; 8名受试者具有特征性AGel淀粉样变性病表型，包括颅神经病和/或角膜晶状体营养不良。 I-123-SAP闪烁显像显示所有10例患者都有大量肾脏淀粉样蛋白沉积物，包括肾功能保留的患者，并且通常没有示踪剂摄取到其他内脏器官。 I-123-SAP闪烁显像术是一种非侵入性技术，可帮助早期诊断患有这种罕见疾病的患者，尤其是那些缺乏家族史和/或表现出异常临床表型的患者。

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