与未描述的 LMX1B 基因突变有关的局灶性肾小球硬化症

IF 1.6 4区医学 Q3 GENETICS & HEREDITY

European journal of medical genetics Pub Date : 2024-10-28 DOI:10.1016/j.ejmg.2024.104980

María Adoración Martín Gómez , Mercedes Caba Molina , Miriam León Fradejas , Juana Alonso Titos , Rafael del Pozo Alvarez

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引用次数: 0

摘要

一名 50 岁女性出现肾病性蛋白尿，肾小球滤过率保留。肾活检显示其患有局灶节段性肾小球硬化症（FSGS）和肾小球基底膜变薄。她的兄弟长期患有慢性肾病，以前被诊断为微小病变，最后接受了肾脏异体移植，出现了高蛋白尿和肾功能衰退。活组织检查发现了 FSGS。最后，一位叔父也患有同样的疾病，但他拒绝接受活组织检查。基因检测发现 LMX1B 存在一个新的错义突变，即 c.349G>A:p(Gly117Ser)。因此，本系列病例显示了一种家族性 LMX1B 相关性肾病，表现为 FSGS。

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Focal segmental glomerulosclerosis associated with undescribed mutation in the LMX1B gene

A 50-year-old woman presented with nephrotic proteinuria and preserved glomerular filtration rate. A renal biopsy showed focal segmental glomerulosclerosis (FSGS) and glomerular basement membrane thinning. Her brother has a long history of chronic kidney disease, formerly diagnosed with minimal change disease, and eventually received a kidney allograft, developing high-grade proteinuria and decline in kidney function. FSGS was found by biopsy. Lastly, one paternal uncle suffered from the same condition, but he declined a biopsy. A genetic test identified a novel missense mutation in LMX1B, c.349G > A:p(Gly117Ser). Thus, the present series of cases shows a familial LMX1B-associated nephropathy presenting with FSGS.

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来源期刊

European journal of medical genetics 医学-遗传学

CiteScore

4.10

自引率

0.00%

发文量

193

审稿时长

66 days

期刊介绍： The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models. Original clinical and experimental research articles, short clinical reports, review articles and letters to the editor are welcome on topics such as : • Dysmorphology and syndrome delineation • Molecular genetics and molecular cytogenetics of inherited disorders • Clinical applications of genomics and nextgen sequencing technologies • Syndromal cancer genetics • Behavioral genetics • Community genetics • Fetal pathology and prenatal diagnosis • Genetic counseling.