Crigler-najjar syndrome: Treatment, symptoms, advice and help
About crigler-najjar syndrome
Crigler-najjar syndrome is a rare but serious condition which is characterised by impairment in bilirubin metabolism resulting in its excess amount in body. Bilirubin is a product of breakdown of red blood cells which takes place in liver. Deposition of bilirubin in various organs of the body damages them, thereby resulting in typical clinical manifestations.
Crigler-najjar syndrome: Incidence, age and sex
Crigler-najjar syndrome is an extremely infrequent inherited disorder which generally manifests at around birth. No gender predilection has been documented yet.
Signs and symptoms of crigler-najjar syndrome: Diagnosis
Presence of surplus amount of bilirubin leads to its deposition in skin and eyes resulting in yellowish discolouration of both skin and white of eyes. This symptom is called jaundice, which is usually the first manifestation in the affected baby. Damage to the brain, muscles and nerves may also occur due to bilirubin deposition in them, resulting in personality changes and mental confusion. The diagnosis can be confirmed by certain blood tests which will evaluate the liver function. Moreover, presence of excess bilirubin can also be documented and confirmed by a simple blood test. Biopsy of liver tissue may be required in seldom cases where the diagnosis is unclear.
Causes and prevention of crigler-najjar syndrome
Crigler-najjar syndrome is a genetic disorder occurring as a result of presence of abnormal gene. This condition can be inherited and passed along the family line. The presence of an abnormal gene leads to failure of bilirubin metabolism which therefore accumulates in excess amount in different parts of body.
Crigler-ajjar syndrome: Complications
Damage to the brain is the most dreaded complication of this syndrome. It may damage the liver which is a prime organ of body and responsible for various significant functions. Moreover crigler-najjar syndrome may also result in death in the early years, if it is not treated timely.
Crigler-najjar syndrome: Treatment
Once the syndrome is diagnosed in the new born baby, phototherapy must be immediately provided to eliminate excess bilirubin. Certain medications like calcium-based chelating agents may be prescribed to remove bilirubin from the body. The prognosis of Crigler-najjar syndrome depends upon the severity of the syndrome which may differ from person to person.