Biliary Atresia
Description
Biliary atresia is a rare and serious liver disease that affects newborns. It occurs when the bile ducts inside and outside the liver are blocked, preventing bile from flowing properly. Bile is a fluid produced by the liver that helps digest fats. When it can‘t flow, it builds up in the liver, causing damage. This condition requires early diagnosis and treatment, as it can lead to liver failure if left untreated.
Genes Involved
While the exact causes of biliary atresia are unknown, genetic factors are suspected to play a role. Research is ongoing to identify specific genes associated with the condition. Some studies have suggested links to genes involved in liver development and immune response.
Recognizing the Signs and Symptoms
Biliary atresia often presents with the following symptoms in newborns:
- Jaundice (yellowing of the skin and eyes): This is the most common symptom and is often present at birth or within the first few weeks of life.
- Pale stools: The stool may appear white or clay-colored due to the lack of bile in the digestive system.
- Dark urine: The urine may be darker than usual due to the buildup of bilirubin in the blood.
- Enlarged liver and spleen: The liver and spleen may be enlarged and tender.
- Failure to thrive: The baby may not gain weight or grow at a normal pace due to impaired digestion.
- Abdominal swelling: Fluid may build up in the abdomen.
- Irritability and lethargy: The baby may be irritable or lethargic due to discomfort and poor health.
Causes
The exact cause of biliary atresia remains unknown, but several theories exist:
- Viral infection: Some researchers believe that a viral infection during pregnancy or shortly after birth may trigger an immune response that damages the bile ducts.
- Genetic factors: There is evidence suggesting a genetic predisposition to biliary atresia, but the specific genes involved are not fully identified.
- Abnormal development: It‘s possible that the bile ducts may not develop properly during fetal development.
- Immune system dysfunction: A malfunctioning immune system may attack the bile ducts, causing damage.
Inheritance/recurrence risk
Biliary atresia is not typically inherited in a straightforward Mendelian pattern. The risk of recurrence in subsequent pregnancies is low, but it can be slightly elevated if there is a family history of the condition. However, it is important to consult with a genetic counselor for personalized risk assessment.
