肉芽肿性肾病：你考虑过遗传学吗？

IF 2.6 3区医学 Q1 PEDIATRICS

Pediatric Nephrology Pub Date : 2025-09-01 Epub Date: 2025-03-18 DOI:10.1007/s00467-025-06741-1

Enzo Vedrine, Lucie Bessenay, Carole Philipponnet, Marine Dancer, Aurelia Bertholet-Thomas

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引用次数: 0

摘要

我们在此报告一例16岁的慢性肾病女孩，活检显示小管间质肾病伴肉芽肿。最初的治疗包括免疫抑制治疗，除非外显子组测序的基因检测发现由于NPHP1基因纯合子缺失导致的肾病，这标志着与肾病相关的肉芽肿性肾病的独特实例。由于严重的肾脏损伤，她的功能尚未恢复，需要腹膜透析和移植。这个病例强调了在炎性间质性和肉芽肿性肾病中考虑肾肾病的必要性，特别是当它在生命早期出现严重时。此外，它强调了基因检测对儿科肾病准确诊断和管理的重要性。

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Granulomatous nephropathy: have you thought about genetics?

We report here the case of a 16-year-old girl with chronic kidney disease, where biopsy revealed tubulointerstitial nephropathy with granulomas. Initial treatments included immunosuppressive therapy unless genetic testing with exome sequencing identified nephronophthisis due to a homozygous deletion of the NPHP1 gene, marking a unique instance of granulomatous nephropathy related to nephronophthisis. With severe kidney damage, her function has not recovered, necessitating peritoneal dialysis and transplantation. This case highlights the need to consider nephronophthisis in inflammatory interstitial and granulomatous nephropathy, especially when it appears severe and early in life. In addition, it underscores the importance of genetic testing for accurate diagnosis and management in pediatric nephropathies.

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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.