Scholarlink

Objectives <p>Hypocomplementaemic urticarial vasculitis (HUV) is a rare small-vessel vasculitis characterized by the combination of urticarial vasculitis and hypocomplementaemia. HUV may occur in isolation or be associated with systemic diseases such as systemic lupus erythematosus (SLE). Recently, loss-of-function variants in <i>DNASE1L3</i> have been reported to cause familial forms of HUV. We aimed to describe the clinical and genetic features of childhood-onset HUV cases in France.</p> Methods <p>We conducted a nationwide retrospective study in France that included 10 patients with childhood-onset HUV.</p> Results <p>Ten children, all girls, were included. Their median age at onset was 9.5 years (range: 2–14 years), and the median delay between onset and diagnosis was 13 months (range: 6–55 months). Phenotypes were heterogeneous: 3 had systemic HUV syndrome (S-HUVS), all associated with DNASE1L3 deficiency, including 2 siblings; 4 had non-systemic HUVS (NS-HUVS), one of whom had a C2 deficiency; and 3 had SLE-associated HUV. Musculoskeletal features were the most common extracutaneous manifestation (9/10). The most severe manifestations were observed in children with S-HUVS, including pulmonary haemorrhage (2/3) and glomerulonephritis (2/3). Anti-nuclear antibodies were positive in 9/10 patients, anti-C1q antibodies in 6/10, and anti-neutrophil cytoplasmic antibodies in 5/10. Antihistamines were widely used in NS-HUVS, while S-HUVS and SLE-associated HUV required immunosuppressive treatments. Hydroxychloroquine was used in 8/10 patients.</p> Conclusion <p>These 10 cases highlight the heterogeneity and potential severity of childhood-onset HUV. We report the third familial form of HUVS associated with DNASE1L3 deficiency and an extremely rare case of HUVS associated with C2 deficiency.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Childhood-onset hypocomplementaemic urticarial vasculitis in France: phenotypic and genotypic diversity in 10 children

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年3月10日

查看全文
  • Chloe Bianchi,
  • Isabelle Melki,
  • Vanja Sisirak,
  • Severine Loizon,
  • Martin Broly,
  • Guilaine Boursier,
  • Maud Tusseau,
  • Audrey Laurent,
  • Alexandre Belot,
  • Laurence Eitenschenck,
  • Vincent Guigonis,
  • Eric Jeziorski,
  • Damia Leguevaques,
  • Olivier Richer,
  • Pascal Pillet,
  • Jérôme Granel

摘要

Objectives

Hypocomplementaemic urticarial vasculitis (HUV) is a rare small-vessel vasculitis characterized by the combination of urticarial vasculitis and hypocomplementaemia. HUV may occur in isolation or be associated with systemic diseases such as systemic lupus erythematosus (SLE). Recently, loss-of-function variants in DNASE1L3 have been reported to cause familial forms of HUV. We aimed to describe the clinical and genetic features of childhood-onset HUV cases in France.

Methods

We conducted a nationwide retrospective study in France that included 10 patients with childhood-onset HUV.

Results

Ten children, all girls, were included. Their median age at onset was 9.5 years (range: 2–14 years), and the median delay between onset and diagnosis was 13 months (range: 6–55 months). Phenotypes were heterogeneous: 3 had systemic HUV syndrome (S-HUVS), all associated with DNASE1L3 deficiency, including 2 siblings; 4 had non-systemic HUVS (NS-HUVS), one of whom had a C2 deficiency; and 3 had SLE-associated HUV. Musculoskeletal features were the most common extracutaneous manifestation (9/10). The most severe manifestations were observed in children with S-HUVS, including pulmonary haemorrhage (2/3) and glomerulonephritis (2/3). Anti-nuclear antibodies were positive in 9/10 patients, anti-C1q antibodies in 6/10, and anti-neutrophil cytoplasmic antibodies in 5/10. Antihistamines were widely used in NS-HUVS, while S-HUVS and SLE-associated HUV required immunosuppressive treatments. Hydroxychloroquine was used in 8/10 patients.

Conclusion

These 10 cases highlight the heterogeneity and potential severity of childhood-onset HUV. We report the third familial form of HUVS associated with DNASE1L3 deficiency and an extremely rare case of HUVS associated with C2 deficiency.