[Two female siblings with childhood-onset systemic lupus erythematosus]

Area of Science:

• Nephrology
• Rheumatology
• Genetics

Background:

• Childhood-onset Systemic Lupus Erythematosus (SLE) is a complex autoimmune disease.
• Lupus nephritis, a severe complication, affects kidney function.
• Familial clustering of SLE suggests a potential genetic predisposition.

Observation:

• Two female siblings presented with childhood-onset SLE and subsequent development of lupus nephritis.
• The younger sister was diagnosed at age 11 with membranous lupus nephritis, while the elder sister was diagnosed at age 14 with mixed mesangial proliferative and membranous nephritis.
• Both siblings exhibited proteinuria, hypocomplementemia, positive ANA/anti-dsDNA antibodies, and secondary Sjögren's syndrome.

Findings:

• Both siblings shared the same HLA haplotype, indicating a potential genetic link in their autoimmune disease development.
• The cases highlight the occurrence of membranous lupus nephritis in siblings with childhood-onset SLE.
• The shared genetic background and similar clinical manifestations underscore the importance of genetic factors in SLE pathogenesis.

Implications:

• These findings suggest that genetic factors, particularly specific HLA haplotypes, may play a role in the familial occurrence of childhood-onset SLE and lupus nephritis.
• Early diagnosis and monitoring are crucial for managing lupus nephritis in pediatric SLE patients.
• Further research into the genetic underpinnings of SLE could lead to targeted therapies and improved patient outcomes.