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Crigler-Najjar Syndrome- A Rare Genetic Disorder

About

When levels of the toxic substance known as Bilirubin increases in the blood, it can then cause a severe condition of Crigler-Najjar Syndrome.

Crigler-Najjar Syndrome is an extremely rare case with only around 100 known cases in the world.[1]

Crigler-Najjar Syndrome can:
- Affect males and females equally and are not gender specific
- Require a medical diagnosis
- Lab tests may be required
- Can be cured if treated early

Infants are at the highest risk of developing this disorder. They can either develop Type 1 or Type 2 of this disorder. Type 1 of this disease is the severe kind and the affected individuals can die in childhood if left untreated. Type 2 is less severe where individuals affected by it most likely survive into adulthood.

Symptoms

Affected infants with Type 1 of this disorder start showing symptoms at the time of birth itself. The symptoms can be:
- Persistent yellowing of the skin
- Mucous membranes and whites of the eyes showing signs of Jaundice
- Developing Kernicterus, a life-threatening neurological condition
- Vomiting
- Fever
Type 2 of this disorder is less serious where infants will usually show signs of jaundice.

Treatment

Self-care: Since this condition is detected soon after birth, it cannot be treated at home by any home remedies. Immediate consultation with the doctor is necessary.

Medication: Doctors will first try to find out the type of the disorder. Depending on that they will aim at reducing the levels of toxic Bilirubin in the blood. For the same, doctors can opt for phototherapy, Plasmapheresis or a liver transplant. Liver transplant is the only definitive treatment to resolve Type 1. For Type 2, doctors may usually recommend treatment with Phenobarbital.

Specialists: Consult a physician if the cases worsen. Visit mfine website for more information related to various health-related issues. You can also opt to come on board for holistic treatment.

Gastroenterologist

Dr. Nagarjuna Yarlagadda

Dr. Nagarjuna Yarlagadda

MD- General Medicine, DM (Gastro) (PGI)

34+ years exp

...More

Sunshine Hospitals

Hyderabad

Gastroenterologist

Dr. Venugopal Pareek

Dr. Venugopal Pareek

MS, DNB, FBMS, FIAGES, FAIS, FMAS

20+ years exp

...More

Sunshine Hospitals, Secunderabad

Hyderabad

Gastroenterologist

Dr. Datta Ram

Dr. Datta Ram

MS, MRCS (Edin), DNB (Surgical Gastroenterology)

15+ years exp

...More

Sunshine Hospitals

Hyderabad

Gastroenterologist

Dr. Maruthesh Gowda

Dr. Maruthesh Gowda

MRCS(London), FRCS(London)

15+ years exp

...More

Koshys Hospital

Bangalore

Gastroenterologist

Dr. Prithvi Priyadarshini

Dr. Prithvi Priyadarshini

MD (Internal Medicine), DNB, DM (Gastroenterology)

14+ years exp

...More

Axon Specialty Hospital

Bangalore

Gastroenterologist

Dr. Swathi G

Dr. Swathi G

MD (General Medicine), DM (Gastroenterology)

7+ years exp

...More

Sunshine Hospitals, Secunderabad

Hyderabad

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