Novel gelsolin variant as the cause of nephrotic syndrome and renal amyloidosis in a large kindred.
Novel gelsolin variant as the cause of nephrotic syndrome and renal amyloidosis in a large kindred.
复制标题
新型凝胶素变体是大型肾脏综合征和肾脏淀粉样变性的原因。
DOI：
10.3109/13506129.2014.891502
复制
发表时间：
2014-06
期刊：
影响因子：
--
通讯作者：
Rowczenio D
中科院分区：
文献类型：
--
作者：
Efebera YA;Sturm A;Baack EC;Hofmeister CC;Satoskar A;Nadasdy T;Nadasdy G;Benson DM;Gillmore JD;Hawkins PN;Rowczenio D
芬兰型家族性淀粉样变性（FAF）是一种罕见的常染色体显性遗传性淀粉样变性，与凝溶胶蛋白的遗传变异有关。三种淀粉样蛋白基因突变以前曾报道过，其特征性表现为眼科异常、进行性颅神经病变和皮肤拉克萨。我们报告了一个新的凝溶胶蛋白变异的62岁男子肾病范围蛋白尿13.2克/天作为唯一的表现症状。肾活检后进行激光显微切割和质谱分析显示淀粉样变性源于凝溶胶蛋白。DNA测序揭示了新的凝溶胶蛋白突变（c.633C>A）编码p.N211K蛋白变体。13名无症状的家庭成员中有4名被发现是p.N211K突变的杂合子，其中3名有不同程度的蛋白尿，包括1名进行肾活检并被证实患有肾淀粉样变性。这些病例的随访可能使我们更深入地了解这种非典型表现的凝溶胶蛋白淀粉样变性的致病性和潜在的治疗策略。
Familial Amyloidosis of Finnish type (FAF) is a rare type of autosomal dominant hereditary amyloidosis associated with genetic variants of gelsolin. Three amyloidogenic mutations have previously been reported characteristically presenting with ophthalmologic abnormalities, progressive cranial neuropathy and cutis laxa. We report a novel gelsolin variant in a 62 year old man with nephrotic range proteinuria of 13.2 grams/day as the only presenting symptom. Renal biopsy followed by laser microdissection and mass spectrometry showed amyloidosis derived from gelsolin. DNA sequencing revealed the novel gelsolin mutation (c.633C>A) encoding p.N211K protein variant. Four of 13 asymptomatic family members were found to be heterozygous for the p.N211K mutation, three of whom had proteinuria of varying degree including one who proceeded to renal biopsy and was confirmed to have renal amyloidosis. Follow up of these cases might give us more insight into pathogenicity and potential treatment strategy of this atypical presentation of gelsolin amyloidosis.
登录
查看更多内容
影响因子：
19.6
作者：
通讯作者：
--
影响因子：
6.1
作者：
Ardalan, Mohammad Reza;Shoja, Mohammadali Mohajel;Kiuru-Enari, Sari
通讯作者：
Kiuru-Enari, Sari
影响因子：
4.4
作者：
Ikeda, Masaki;Mizushima, Kazuyuki;Okamoto, Koichi
通讯作者：
Okamoto, Koichi
影响因子：
2.2
作者：
Taira, Makiko;Ishiura, Hiroyuki;Tsuji, Shoji
通讯作者：
Tsuji, Shoji
影响因子：
13.2
作者：
Sethi, Sanjeev;Theis, Jason D.;Highsmith, Edward W., Jr.
通讯作者：
Highsmith, Edward W., Jr.