Criggler Najjar (CN) is an exceedingly rare genetic disorder that results in severe jaundice in new-borns. This is due to the accumulation of bilirubin, a pigment produced during breakdown of the red blood cells and converted to a non-toxic excretable form by an enzyme produced in the liver.
This syndrome occurs due to complete (type 1) or partial (type 2) lack of this essential enzyme. Type 1 is a life threatening condition as very high bilirubin levels can cause a condition called kernicterus wherein bilirubin causes irreversible brain damage and hearing loss. Type 2 is the milder variant in which the enzyme is present in subnormal amounts and thereby can be treated using medications that lower the bilirubin levels.
What causes Criggler Najjar?
The syndrome that occurs in 1 in a million is an inherited condition that runs in families. The disease occurs when the child inherits the defective genes from both the parents who are carriers. Carriers have only one defective gene that results in subnormal liver enzyme but enough to sustain body requirements. Hence carriers carry a defective gene copy but do not manifest disease.
How is Criggler Najjar treated?
Babies suffering from this disease require phototherapy for long hours. This therapy entails keeping the baby naked with just the eyes and genitalia covered under phototherapy units that emit light of a specific wavelength.
2. Exchange Transfusion
This causes the toxic bilirubin to be converted to a water soluble form that is then excreted along with urine. If the bilirubin still remains in the danger range, then exchange transfusion is done wherein the baby’s blood is replaced. At times, babies may require multiple exchange transfusions before they stabilize and are discharged from the nursery on home phototherapy.
3. Liver Transplant
As these children grow their skins become thicker and phototherapy effectiveness decreases. They remain persistently jaundiced. Though the risk of kernicterus is the highest in the new-born period it may occur at any age. The only permanent cure is a liver transplant that provides a new liver with capability to produce the required enzyme. A close relative, preferably either of the parents, require to donate a part of their liver that later regenerates itself. After the transplant the jaundice is rapidly
A close relative, preferably either of the parents, require to donate a part of their liver that later regenerates itself. After the transplant the jaundice is rapidly resolved, the phototherapy requirement ceases and the child can lead a normal life with no fear of neurological deterioration.
Criggler Najjar treatment at Apollo Hospitals
Despite CN being such a rare disease we feel proud to have done 5 transplants for it and another is scheduled in the coming week. All the children are doing well on follow up.
The first child was a 2-year-3-months-old girl from Yemen in the year 2008. She had already developed some slurring of speech, difficulty in walking and weakness in both the legs indicating early brain damage. Our pediatric neurologist, an authority in her field opined that her neurological changes could possibly reverse after a liver transplant.
Amal became the first successful liver transplant recipient for Criggler Najjar syndrome in India. More than 8 years since then, she is like any normal girl going to regular school with normal speech, gait, and cognitive abilities.
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