含有8 （TRIM8）基因的三方基序无义突变，模拟胶原病。

IF 2.6 3区医学 Q1 PEDIATRICS

Pediatric Nephrology Pub Date : 2025-05-01 Epub Date: 2024-12-21 DOI:10.1007/s00467-024-06636-7

Rehna K Rahman, Harisankar T, Smilu Mohanlal, Divya Pachat, Shalini Kuruvilla, Shephali Sharma

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引用次数: 0

摘要

TRIM8基因突变与常染色体显性遗传神经肾综合征有关。肾脏表现从肾病、蛋白尿到肾病综合征和肾衰竭。所有报告病例的组织病理学均为局灶性节段性肾小球硬化（FSGS）。我们现在报告一个1岁男孩的TRIM8无义突变，模仿肾活检中的胶原病。

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A nonsense mutation in the Tripartite motif containing 8 (TRIM8) gene, mimicking collagenopathy.

Tripartite motif-containing 8 (TRIM8) gene mutations are associated with autosomal dominantly inherited neurorenal syndrome. The kidney manifestations range from nephrotic range proteinuria to nephrotic syndrome and kidney failure. The histopathology has been focal segmental glomerulosclerosis (FSGS) in all reported cases. We now report a nonsense mutation in TRIM8 in a 1-year-old boy, mimicking collagenopathy in kidney biopsy.

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来源期刊

Pediatric Nephrology 医学-泌尿学与肾脏学

CiteScore

4.70

自引率

20.00%

发文量

465

审稿时长

1 months

期刊介绍： International Pediatric Nephrology Association Pediatric Nephrology publishes original clinical research related to acute and chronic diseases that affect renal function, blood pressure, and fluid and electrolyte disorders in children. Studies may involve medical, surgical, nutritional, physiologic, biochemical, genetic, pathologic or immunologic aspects of disease, imaging techniques or consequences of acute or chronic kidney disease. There are 12 issues per year that contain Editorial Commentaries, Reviews, Educational Reviews, Original Articles, Brief Reports, Rapid Communications, Clinical Quizzes, and Letters to the Editors.