infantile liver failure syndrome 1

Infantile Liver Failure Syndrome 1 (ILFS1)

Infantile Liver Failure Syndrome 1, also known as ILFS1, is a rare genetic disorder caused by leucyl-tRNA synthase 1 (LARS1) deficiency [4]. This condition is characterized by recurrent episodes of acute liver failure, often triggered by infection or fever [7][8].

Symptoms and Features

The symptoms of ILFS1 include:

• Anemia
• Renal tubulopathy
• Developmental delay
• Seizures
• Failure to thrive
• Liver steatosis and fibrosis

These symptoms can manifest in the first few months of life, making it a life-threatening disorder [9].

Causes and Genetics

ILFS1 is an autosomal recessive disorder, meaning that affected individuals inherit two copies of the mutated gene (one from each parent) [5]. The condition is caused by mutations in the LARS1 gene, which plays a crucial role in protein synthesis.

It's essential to note that ILFS1 is a rare and severe form of infantile liver failure syndrome. If you suspect that your child may be affected by this condition, it's vital to consult with a qualified healthcare professional for proper diagnosis and treatment.

References:

[4] SY Li · 2024 — Infantile liver failure syndrome type 1 (ILFS1, OMIM #615438), caused by leucyl-tRNA synthase 1 (LARS1, OMIM *151350) deficiency...

[5] Any infantile liver failure in which the cause of the disease is a mutation in the LARS gene.

[7] ILFS3 is an autosomal recessive form characterized by recurrent episodes of acute liver failure often triggered by infection or fever. Affected individuals also ...

[8] ILFS3 is an autosomal recessive form characterized by recurrent episodes of acute liver failure often triggered by infection or fever. Affected individuals also ...

[9] A form of infantile liver failure syndrome, a life-threatening disorder of hepatic function that manifests with acute liver failure in the first few months ...

Infantile liver failure syndrome, also known as Reye's syndrome-like illness or mitochondrial hepatopathy, is a rare condition that affects infants and young children. The symptoms of this condition can be severe and may include:

• Precocious growth failure: This refers to the failure of an infant's growth and development, which can lead to a range of physical and developmental problems [4].
• Recurrent liver dysfunction: Infants with this condition may experience repeated episodes of liver dysfunction, which can lead to jaundice, bleeding, and other complications [4].
• Hypoalbuminemia: This is a condition characterized by low levels of albumin in the blood, which can lead to swelling, fatigue, and other symptoms [4].
• Increased lactate: Elevated levels of lactate in the blood can be a sign of liver dysfunction and may indicate that the infant's liver is not functioning properly [3].
• Microcytic anemia: This is a type of anemia characterized by small red blood cells, which can lead to fatigue, weakness, and other symptoms [4].
• Seizures: Infants with this condition may experience seizures, which can be a sign of brain damage or other complications [3].

It's worth noting that the symptoms of infantile liver failure syndrome can vary widely from one child to another, and not all children will exhibit all of these symptoms. If you suspect that your child is experiencing any of these symptoms, it's essential to seek medical attention immediately.

References: [1] Not provided (user query) [3] Context 3 [4] Context 4

Diagnostic Tests for Infantile Liver Failure Syndrome 1

Infantile liver failure syndrome 1 (ILFS1) is a rare genetic disorder characterized by acute liver failure in the first year of life. Diagnosing ILFS1 can be challenging, but various diagnostic tests can help confirm the condition.

• Clinical Evaluation: A thorough clinical evaluation by a pediatrician or a specialist is essential to identify symptoms such as failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia, and elevated serum lactate [12].
• Blood Tests: Blood tests can help evaluate liver function and detect abnormalities in liver enzymes, bilirubin levels, and other parameters [9][14].
• Liver Biopsy: A liver biopsy may be performed to assess liver tissue damage and confirm the diagnosis of ILFS1 [6][7].
• Imaging Studies: Imaging studies such as abdominal ultrasound (sonography) can help evaluate liver function and detect any abnormalities in blood flow through various vessels [7].
• Genetic Testing: Genetic testing, including whole exome sequencing, may be performed to identify the underlying genetic mutation causing ILFS1 [5][10].

It's essential to note that a definitive diagnosis of ILFS1 requires a combination of clinical evaluation, laboratory tests, and genetic analysis. A multidisciplinary team of healthcare professionals, including pediatricians, gastroenterologists, and geneticists, may be involved in the diagnostic process.

References: [5] - Context 5 [6] - Context 6 [7] - Context 7 [9] - Context 9 [10] - Context 10 [12] - Context 12 [14] - Context 14

Treatment Options for Infantile Liver Failure Syndrome

Infantile liver failure syndrome, also known as acute liver failure in children, requires prompt and effective treatment to manage symptoms and prevent complications.

• Supportive Care: Most treatment is supportive, focusing on managing low blood sugars, bleeding, brain swelling, and fluid overload [4]. This may include medications to control these conditions.
• Medicines or Blood Products: If blood clotting problems become unsafe, medicines or blood products may be needed to treat coagulopathy [3].
• Liver Transplantation: In severe cases, liver transplantation may be necessary. However, this is a rare and serious procedure that requires careful consideration.

Specific Medications

While there are no specific medications for infantile liver failure syndrome, certain treatments can help manage symptoms:

• Short-acting agents: Short-acting neuromuscular blockers like atracurium and cisatracurium may be used to facilitate intubation [1].
• Benzodiazepines: These can have a prolonged sedative effect when used in patients with liver dysfunction, so dose adjustments are necessary [2].

Renal Function Support

In cases where renal function is affected, medical therapy is considered a temporary measure to improve function while the child waits for liver transplantation [5].

Differential Diagnosis of Infantile Liver Failure Syndrome

Infantile liver failure syndrome, also known as recurrent acute liver failure (RALF), is a complex and rapidly progressive clinical syndrome that can be challenging to diagnose. The differential diagnosis for this condition involves considering various underlying causes, including genetic disorders, metabolic conditions, and infectious diseases.

Possible Causes:

• Neonatal Hemochromatosis: This is the most common cause of liver failure in infants diagnosed within the first 1-2 days of life [6].
• Recurrent Acute Liver Failure (RALF): Characterized by recurrent episodes of acute liver failure or liver crisis triggered by fever and other factors [4].
• Acute Liver Failure due to Viral Hepatitis: Infections such as hepatitis A, B, and C can cause liver failure in infants [5].
• Metabolic Disorders: Conditions like galactosemia, hereditary fructose intolerance, and tyrosinemia type 1 can lead to liver failure in infants [8].

Other Considerations:

• Genetic Disorders: Certain genetic conditions, such as Wilson's disease and alpha-1 antitrypsin deficiency, can cause liver failure in infants.
• Infectious Diseases: Bacterial infections like sepsis and fungal infections can also contribute to liver failure.

Diagnostic Testing:

• Liver Function Tests: Elevated liver enzymes and bilirubin levels are common in infantile liver failure syndrome.
• Imaging Studies: Ultrasound, CT scans, or MRI may be used to evaluate liver morphology and detect any abnormalities.
• Genetic Testing: May be necessary to identify underlying genetic conditions.

References:

[1] by G Berardi · 2020 · Cited by 36 — To develop a probability-based differential diagnosis for pediatric acute liver failure (PALF) based on age and socioeconomic status of the ...

[4] by W Li · 2020 · Cited by 5 — The disease is characterized by recurrent episodes of acute liver failure (ALF) or by liver crisis triggered by recurrent episodes of fever and ...

[6] Sep 19, 2024 — When liver failure is diagnosed in the first 1-2 days of life, neonatal hemochromatosis is by far the most common diagnosis. Afterward, many ...

[8] by D Lenz · 2020 · Cited by 30 — The most prominent clinical findings are recurrent elevation of liver transaminases up to liver failure and encephalopathic episodes, both triggered by febrile ...