Acute infantile liver failure-multisystemic involvement syndrome

Acute infantile liver failure-multisystemic involvement syndrome (also known as AILF or sometimes referred to as NBAS-related disease) is a very rare genetic condition that primarily affects the liver but can also involve multiple other organ systems. It is caused by mutations in the NBAS gene, which plays an important role in how cells transport proteins internally. Children with this condition typically experience episodes of acute liver failure, meaning the liver suddenly stops working properly. These episodes are often triggered by fevers or common childhood illnesses. During a liver crisis, the liver becomes severely inflamed and cannot perform its normal functions, such as filtering toxins, making clotting factors, and processing nutrients. Beyond the liver, this syndrome can affect growth, bones, the immune system, and the nervous system. Children may have short stature, reduced bone density, facial features that look slightly different, and recurrent infections. Some children also experience developmental delays or intellectual disability. The severity varies from child to child, but the liver crises can be life-threatening if not treated quickly. Treatment is mainly supportive and focuses on managing liver crises aggressively, preventing fevers, and monitoring the many body systems that can be affected. Early recognition and rapid treatment of fever-triggered liver failure episodes are critical to improving outcomes. Liver transplantation has been considered in severe cases. There is currently no cure, and management requires a coordinated team of specialists.

Bring these to your next appointment

• Q1.What is our specific emergency plan if my child develops a fever, and at what temperature should we go to the hospital?,Which fever-reducing medications are safe for my child given their liver condition, and what doses should we use?,How often should my child have liver function tests and other monitoring blood work?,Should my child receive any additional vaccinations beyond the standard schedule to help prevent infections?,Are there any clinical trials or research studies that my child might be eligible for?,What specialists should be part of my child's care team, and how often should we see each one?,Should we consider genetic counseling for our family, and what does this mean for future pregnancies?

Common questions about Acute infantile liver failure-multisystemic involvement syndrome

Related conditions

Other rare diseases commonly researched alongside Acute infantile liver failure-multisystemic involvement syndrome.

• Galactosemia→
• Reye syndrome→