Monogenic systemic lupus erythematosus onset in a 13-year-old boy with Noonan like-syndrome: a case report and literature review.

IF 2.8 3区医学 Q1 PEDIATRICS

Pediatric Rheumatology Pub Date : 2024-01-18 DOI:10.1186/s12969-023-00939-z

Patricia Morán-Álvarez, Alessandra Gianviti, Francesca Diomedi-Camassei, Monia Ginevrino, Fabrizio de Benedetti, Claudia Bracaglia

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引用次数: 0

Abstract

Background: Childhood systemic lupus erythematosus (cSLE) has been considered as a polygenic autoimmune disease; however, a monogenic lupus-like phenotype is emerging with the recent recognition of several related novel high-penetrance genetic variants. RASopathies, a group of disorders caused by mutations in the RAS/MAPK pathway, have been recently described as a cause of monogenic lupus.

Case presentation: We present a 13-year-old boy with Noonan-like syndrome with loose anagen hair who developed a monogenic lupus. The renal biopsy confirmed a class III lupus nephritis and identified the presence of zebra bodies.

Conclusions: RASopathies represent a cause of monogenic lupus. We report a new case of monogenic lupus in a child with Noonan-like syndrome with loose anagen hair. Lupus nephritis which has never been described in this context, may be part of the presentation. The presence of zebra bodies in SLE or RASopathies in unclear, but no other known conditions (Fabry disease or drugs) were identified as the cause of zebra bodies in our patient.

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单基因系统性红斑狼疮在一名患有努南样综合征的 13 岁男孩身上发病：病例报告和文献综述。

背景：儿童系统性红斑狼疮（cSLE）一直被认为是一种多基因自身免疫性疾病；然而，随着最近几种相关的新型高隐匿性遗传变异的发现，单基因狼疮样表型正在出现。RAS病是由RAS/MAPK通路突变引起的一组疾病，最近被描述为单基因狼疮的病因之一：我们接诊了一名患有努南样综合征并伴有毛发稀疏的 13 岁男孩，他患上了单基因狼疮。肾活检证实他患有 III 级狼疮肾炎，并发现了斑马体：结论：RAS病是单基因狼疮的病因之一。我们报告了一例新的单基因狼疮病例，患儿患有努南样综合征，毛发稀疏。狼疮肾炎从未在这种情况下被描述过，可能是该病症的一部分表现。斑马体在系统性红斑狼疮或RAS病中的存在尚不明确，但没有发现其他已知病症（法布里病或药物）是导致本例患者出现斑马体的原因。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Pediatric Rheumatology PEDIATRICS-RHEUMATOLOGY

CiteScore

4.10

自引率

8.00%

发文量

审稿时长

>12 weeks

期刊介绍： Pediatric Rheumatology is an open access, peer-reviewed, online journal encompassing all aspects of clinical and basic research related to pediatric rheumatology and allied subjects. The journal’s scope of diseases and syndromes include musculoskeletal pain syndromes, rheumatic fever and post-streptococcal syndromes, juvenile idiopathic arthritis, systemic lupus erythematosus, juvenile dermatomyositis, local and systemic scleroderma, Kawasaki disease, Henoch-Schonlein purpura and other vasculitides, sarcoidosis, inherited musculoskeletal syndromes, autoinflammatory syndromes, and others.