一名 NPHS2 基因突变患儿的肾病综合征

IF 1.3 4区 医学 Q3 PATHOLOGY Pediatric and Developmental Pathology Pub Date : 2024-07-01 Epub Date: 2024-01-30 DOI:10.1177/10935266231223274
Ross Tollaksen, Randall D Craver, Ihor V Yosypiv
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引用次数: 0

摘要

耐类固醇肾病综合征(SRNS)占儿童肾病综合征(NS)病例总数的 30%,并经常导致终末期肾病(ESKD)。约 30% 的 SRNS 患儿表现出荚膜相关基因的致病突变。及早发现 SRNS 的遗传形式对于避免可能有害的免疫抑制治疗至关重要。一名 2 岁的男性患者患有 NS,且无肾病家族史,对为期 4 周的类固醇治疗无反应。肾脏活检显示其肾小球系膜增生,基底膜畸形。在基因检测结果出来之前,治疗中增加了他克莫司和利辛普利。肾脏基因面板显示 NPHS2 c.413G>A (p.Arg138Gln) 同源致病变异。这种错义变异被认为是欧洲人群中常见的致病性创始突变。患者被诊断为因 NPHS2 致病变异导致的常染色体隐性非综合征 SRNS。患者停止了免疫抑制治疗,增加了利辛普利的剂量,并开始每周输注白蛋白/呋塞米以控制水肿。该病例表明,对SRNS患儿进行早期基因检测,可避免长期接受可能有害的免疫抑制治疗,及时为遗传学家庭提供咨询,并能更早地考虑未来的活体肾移植。
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Nephrotic Syndrome in a Child With NPHS2 Mutation.

Steroid resistant nephrotic syndrome (SRNS) accounts for 30% of all cases of nephrotic syndrome (NS) in children and frequently leads to end stage kidney disease (ESKD). About 30% of children with SRNS demonstrate causative mutations in podocyte- associated genes. Early identification of genetic forms of SRNS is critical to avoid potentially harmful immunosuppressive therapy. A 2-year-old male patient with NS and no family history of renal disease did not respond to 4-week steroid treatment. Kidney biopsy demonstrated mesangial proliferative glomerulopathy with basement membrane dysmorphism. Tacrolimus and Lisinopril were added to therapy pending results of genetic testing. Kidney Gene panel showed a NPHS2 c.413G>A (p.Arg138Gln) homozygous pathogenic variant. This missense variant is considered a common pathogenic founder mutation in European populations. A diagnosis of autosomal-recessive form of nonsyndromic SRNS due to NPHS2 causative variant was made. Immunosuppresive therapy was stopped, Lizinopril dose was increased and weekly infusions of Albumin/furosemide were initiated to manage edema. This case demonstrates that early genetic testing in children with SRNS avoids prolonged potentially harmful immunosuppressive therapy, allows for timely genetic family counseling, and allows earlier consideration for future living related donor kidney transplantation.

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来源期刊
CiteScore
3.70
自引率
5.30%
发文量
59
审稿时长
6-12 weeks
期刊介绍: The Journal covers the spectrum of disorders of early development (including embryology, placentology, and teratology), gestational and perinatal diseases, and all diseases of childhood. Studies may be in any field of experimental, anatomic, or clinical pathology, including molecular pathology. Case reports are published only if they provide new insights into disease mechanisms or new information.
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