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Genetic changes identified as key to childhood lupus

Genetic changes identified as key to childhood lupus
Conservation, structural location and geographical distribution of UNC93B1 SLE variants. a, Amino acid conservation across five species, as indicated, for residues surrounding the variants of interest in UNC93B1. b, UNC93B1 (Protein Data Bank (PDB) 7CYN) shown in light green and green (surface and cartoon representations) with Thr314 shown as blue sticks on H2. TLR7 protomers are shown in purple and magenta (surface and cartoon representations). Val117 and Leu117 are shown as red sticks between the interface of two UNC93B1 protomers. The structural analysis software used was Pymol v.2.5.8. c, UNC93B1 V117L variant local geographical distribution. Credit: Nature Immunology (2024). DOI: 10.1038/s41590-024-01846-5

Australian and Chinese researchers have jointly discovered a genetic key to the development of the devastating autoimmune condition childhood lupus.

In people with lupus the body's immune system mistakenly attacks its own cells and tissues. Until now, its exact cause has been unknown, but it was thought to be a combination of genetic and environmental factors.

Now Hudson Institute researcher Professor Seth Masters, working with colleagues at China's Guangzhou Women and Children's Medical Center, has identified a specific genetic variant which contributes to the development of -onset lupus.

Prof. Masters said the research, published in Nature Immunology, is a major breakthrough in understanding how the condition develops and, therefore, how it can be treated.

"We now know that some children develop lupus because of changes in their genes, and identifying these is very important to understand why they are sick, and how to best plan for the future," he said.

Childhood lupus therapies in development

"Specifically, therapies that are targeting this gene should become available in the future, and it is important to know who should take them. Variants in several genes can cause childhood-onset lupus, and ours is the first report of changes in a specific gene called UNC93B1," Prof. Masters said.

Childhood lupus, medically known as pediatric systemic lupus erythematosus (SLE), is a chronic autoimmune disease. It's a complex condition that can affect various parts of the body.

It can impact the skin, joints, kidneys, heart, lungs, , and the brain with varying symptoms and severity, making it a complex and often misunderstood condition.

It is estimated that 15–20% of all lupus cases are diagnosed in children and adolescents.

Differences between childhood and adult lupus

Childhood lupus often presents more than adult lupus. The disease tends to progress more rapidly in children.

In addition, children with lupus are more likely to experience organ damage. This includes damage to the kidneys, heart, and nervous system.

Childhood lupus symptoms

One common symptom is fatigue. Another common symptom is fever. This is usually unexplained by other illnesses.

Weight loss is also a frequent sign. It can occur even when the child's diet hasn't changed. Skin manifestations are common in lupus. The classic sign is a butterfly-shaped rash across the cheeks and nose. Joint pain and stiffness are also frequent and often resemble symptoms of arthritis.

Symptoms can be intermittent, they may come and go, and are often accompanied by periods of wellness.

Other possible symptoms include:

  • Hair loss
  • Mouth ulcers
  • Sensitivity to sunlight
  • Swollen lymph nodes
  • Chest pain
  • Abdominal pain
  • Neurological problems, such as seizures and psychosis
  • Kidney problems, such as protein or blood in urine
  • Heart problems, such as inflammation of the heart lining (pericarditis) or (myocarditis)
  • Blood disorders, such as anemia, low white blood cell count, or low platelet count
  • Eye problems, such as dry eyes or inflammation of the eye (uveitis).

Diagnosing childhood lupus

Diagnosing lupus in children can be challenging. This is due to the wide range of symptoms that can mimic other conditions.

Blood tests are often the first step. They can detect antibodies commonly found in lupus patients. Early detection is crucial. It allows for prompt treatment and better management of the disease.

Treatment options for childhood lupus

Treatment for childhood lupus is tailored to the child's specific symptoms. The goal is to manage symptoms and prevent organ damage.

  • Nonsteroidal anti-inflammatory drugs (NSAIDs) may be used to manage and inflammation
  • Corticosteroids help reduce inflammation and suppress the immune system
  • Immunosuppressants used in severe cases, help control the overactive immune system
  • Antimalarial drugs are used to manage skin and joint symptoms.

A multidisciplinary approach is crucial in treating childhood lupus. It involves rheumatologists, nephrologists, and other specialists to provide comprehensive care.

More information: Mahmoud Al-Azab et al, Genetic variants in UNC93B1 predispose to childhood-onset systemic lupus erythematosus, Nature Immunology (2024). DOI: 10.1038/s41590-024-01846-5

Journal information: Nature Immunology
Citation: Genetic changes identified as key to childhood lupus (2024, June 3) retrieved 18 July 2024 from
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