We know that it is normal for newborn babies to have a slight yellowing of their skin, or jaundice. Most of the time, this will subside within a few days. However, sometimes this yellowing can be more than normal and last longer. That is when we need to be a little concerned. Because, this could be due to Crigler-Najjar Syndrome, a rare but potentially serious genetic condition. So, let's talk about this in a little more detail today.
What is Crigler-Najjar Syndrome?
Simply put, Crigler-Najjar Syndrome is a rare genetic condition that occurs when there is too much of a toxic substance called `(Bilirubin)` in our blood. Now you are probably wondering what this `(Bilirubin)` is, right?
Think about it, the red blood cells in our body have a certain lifespan. When that lifespan ends, they die. This yellow pigment that is produced when red blood cells break down is called `(Bilirubin).` Normally, this happens in the body of a healthy person: Our liver takes this `(Bilirubin)`, removes its toxic nature, and turns it into something non-toxic. Then it is excreted from the body with feces.
However, the liver of a person with Crigler-Najjar syndrome cannot properly break down this bilirubin. Then, the toxic bilirubin starts to accumulate in the blood. This is a serious condition that can be life-threatening if not treated properly.
Are there types of Crigler-Najjar syndrome?
Yes, there are two main types of Crigler-Najjar Syndrome:
- Type 1 (CN1): This is the most severe and life-threatening type. Many children with this condition have a hard time surviving due to complications of the disease, especially brain damage. Prompt and intensive treatment is essential.
- Type 2 (CN2): This is a slightly less serious condition than type 1. Children with this type have less severe symptoms because the liver is able to process bilirubin to some extent. Therefore, they can live a normal life span.
Who does this condition affect? How common is it?
Crigler-Najjar Syndrome is a genetic condition that can affect anyone. It is caused by a mutation in a gene called `(UGT1A1)`. Imagine, if both parents are carriers of this defective gene, and the child receives a defective copy of the gene from both of them, this condition (that is, `(Autosomal Recessive)`) occurs. If this defective gene comes from only the mother or only the father, it may be a less serious condition, such as `(Gilbert's Syndrome)`, and another `(Bilirubin)` related condition.
Crigler-Najjar Syndrome affects about one in a million newborns worldwide. That means it's a very, very rare disease.
How does this affect the child's body?
If your little one has this condition, their skin and the whites of their eyes will turn yellow. This is called jaundice. This happens because the liver is unable to process bilirubin properly, causing a build-up of bilirubin in the blood. Although jaundice is common in newborns, babies with Crigler-Najjar syndrome may have jaundice for a longer period of time, possibly throughout their lives.
This can be life-threatening. Because if your baby's body gets too much bilirubin, it can travel to the brain and cause irreversible brain damage. This is called Kernicterus. Therefore, doctors will tailor a treatment plan to your baby's symptoms to prevent these dangerous consequences.
What are the symptoms of Crigler-Najjar syndrome?
The severity of symptoms varies depending on the type (Type 1 or Type 2). Type 1 is the most severe.
If a newborn baby has this condition, their skin and the whites of their eyes will turn yellow, which is called jaundice. Jaundice is common in newborns because their livers are not fully developed. This usually gets better within the first week or two of life. However, in babies with Crigler-Najjar syndrome, this jaundice continues after birth.
What is Kernicterus?
If bilirubin builds up too much in a child's brain, nerves, and tissues, children with Crigler-Najjar syndrome develop a condition called kernicterus. Kernicterus is a life-threatening condition that damages the brain. These symptoms usually appear after a month or so, or in early childhood. Sometimes, these symptoms can appear later in life, either if treatment for Crigler-Najjar syndrome is stopped, or if bilirubin levels suddenly increase due to another illness (fever, infection), or if the baby's liver is damaged.
Mild symptoms of kernicterus may include:
- Clumsiness
- Muscle spasms
- Sensory (feeling, seeing, hearing) problems
- Difficulty performing fine tasks (e.g., holding something, buttoning things, etc.)
- Uncontrolled movements such as constant twisting and writhing of the body (Choreoathetosis)
- Tooth enamel not developing properly
Severe symptoms of Kernicterus may include:
- Hearing difficulties or deafness
- Excessive fatigue, constant sleepiness (Lethargic)
- Difficulty eating and swallowing
- Fever
- Nausea or vomiting
- Sometimes the muscles suddenly become weak (Hypotonia) and/or sometimes the muscles become stiff (Hypertonia)
- Cognitive development issues
What is the reason for this?
As we mentioned earlier, the main reason for this is a mutation in the gene called `(UGT1A1)`. This `(UGT1A1)` gene instructs the liver to make an enzyme called glucuronyl transferase. This enzyme is very important because it helps to convert `(Bilirubin)` from "unconjugated" to "conjugated" and remove it from the body.
Think of it like this: Bilirubin is a yellow waste product. The liver is like a factory. Inside this factory, there are workers called enzymes that are produced by the UGT1A1 gene. Their job is to take this "bad" bilirubin and turn it into a "good" bilirubin, which is water-soluble and can be easily eliminated from the body. Then it combines with bile, passes through the intestines, and is excreted in the stool.
However, if you have a mutation in the `(UGT1A1)` gene, those "workers" (enzymes) are not produced properly, or they cannot work properly. Then that "bad", toxic `(Bilirubin)` accumulates in the blood and tissues. When something like this toxic accumulates in the blood, if not treated properly, life-threatening symptoms can occur.
How do you diagnose this?
If your baby has jaundice, which means that the level of bilirubin is higher than expected in a newborn, or if the jaundice gets worse quickly in the first few days or weeks after birth, you should see a doctor right away. In addition to a physical examination, the doctor will do several other tests to find out exactly why the skin and whites of the eyes are yellow. The tests used to diagnose Crigler-Najjar Syndrome are:
- Genetic testing: This helps to find the mutation in the gene (UGT1A1) that is causing the symptoms.
- Blood Bilirubin Level Test: This measures the total amount of bilirubin in the blood, as well as the "bad" bilirubin (unconjugated bilirubin).
- Liver function tests: Check how well the liver is working.
- You may also need to take a small piece of the liver (liver biopsy) and examine it to check enzyme activity.
The doctor will also ask you if anyone in your family has had these types of genetic conditions, to get an idea of the diagnosis before doing the tests.
What are the treatments for this?
The main goal of treatment for Crigler-Najjar Syndrome is to reduce the level of bilirubin in the body and prevent kernicterus. These treatments may include:
- Phototherapy: This is the main and most commonly used treatment. This involves using special blue lights to remove bilirubin through the skin. Imagine that these lights change the shape of the bilirubin molecules, making them soluble in water, combined with bile, and excreted from the body. During this treatment, a protective cover is placed over the baby's eyes and as much of the skin as possible is exposed to the light. This has to be done for several hours a day, possibly for the rest of their lives.
- Liver transplant: This is the only permanent cure for CN1. This involves surgically removing the diseased liver and replacing it with a healthy liver (or part of a liver). The new liver is able to process bilirubin properly, which helps to return bilirubin levels to normal. This is usually done early in life to prevent brain damage.
- Phenobarbital: This medication is sometimes used for CN2. It can slightly increase the activity of the liver enzymes that process bilirubin. However, it does not work for CN1.
- Plasmapheresis or Exchange Transfusion: These methods are used to quickly remove bilirubin from the blood if the bilirubin level suddenly becomes too high, causing a risk of brain damage.
- Control fever and infections: Fever and infections can cause elevated bilirubin levels, so it is important to control them quickly.
Are there any side effects of the treatment?
Phototherapy is generally a safe treatment. However, sometimes it can cause dry skin and diarrhea. Also, you need to be careful about your child's hydration.
Using new ``LED`` blue lights is less likely to cause damage to the skin than older fluorescent lights.
As we age and grow older, the skin thickens, which can reduce the ability of the `(Phototherapy)` light to reach the `(Bilirubin)` molecules. This can reduce the success of the treatment, and you may need to consider a liver transplant.
Things to consider when caring for a child
Caring for a child with Crigler-Najjar Syndrome can be a challenge.
- (Phototherapy)` It is very important to do the treatment exactly as the doctor says, at the right time. In most cases, this can be adjusted to be done at home.
- While the baby is under the light, comfort him, talk to him, and touch him.
- Proper hydration is essential.
- Always pay attention to your child's skin color, behavior, and eating habits. If you notice any changes, tell your doctor immediately.
- If you develop symptoms like fever, vomiting, or diarrhea, see your doctor immediately, as these can cause your bilirubin levels to increase suddenly.
Can this be prevented?
No. Crigler-Najjar Syndrome cannot be prevented because it is a genetic condition. However, if you are planning to have a child, if someone in your family has this genetic condition, or if you are concerned about it, talk to your doctor about genetic counseling and genetic testing. This will help you find out your risk of having a child with this condition.
What will life be like with this condition? (Prognosis)
This depends on the type of disease (CN1 or CN2) and how quickly and successfully it is treated.
- Children with type CN2 , if treated properly, can usually expect a good recovery and a normal lifespan.
- Children with CN1 are at high risk of developing brain damage due to kernicterus if they are not diagnosed within the first few months of life and treated with intensive phototherapy and then a liver transplant. In such cases, life expectancy may be limited. However, with prompt and appropriate treatment, especially a liver transplant, they can live a normal life.
Many people require lifelong treatment and disease management.
Is there a permanent cure for this?
Yes, as we have said before, a liver transplant can cure Crigler-Najjar Syndrome, especially the CN1 variant. Since the new, healthy liver is able to process Bilirubin properly, the Bilirubin level returns to normal, eliminating the need for phototherapy.
When should I see a doctor?
Crigler-Najjar Syndrome can cause irreversible, life-threatening symptoms. Therefore, if your baby's jaundice does not improve within a few days or seems to be getting worse, see a doctor immediately.
In addition, if you notice any of these symptoms, see a doctor immediately:
- Developmental delays in the child
- High fever
- Jaundice that does not improve or worsens after phototherapy
- Difficulty eating, weight loss
- If the child is constantly sleepy and uninterested
- Unusual body movements or jerks
Questions to ask the doctor
When you go to see the doctor, be prepared to ask questions like these:
- Does my child have Crigler-Najjar syndrome type 1 or 2?
- How long does my child need phototherapy? How many hours per day?
- Are there any side effects to these treatments? What can be done about them?
- Will my child need a liver transplant? If so, when is the best time to do it?
- How serious is my child's diagnosis and what can I expect in the long term?
- Can I do phototherapy at home? What equipment is needed?
- What are the things I need to pay special attention to when taking care of my child?
- When should I come for my next check-up?
A diagnosis of Crigler-Najjar Syndrome can be a challenge for both the child and their caregivers. It is understandable to feel scared and anxious when your child is born with yellow skin and eyes. If you are feeling overwhelmed, stressed, or anxious while caring for your child with this diagnosis, it is important to talk to a mental health counselor and take care of yourself. When you are healthy and strong, you can best help your child navigate this journey.
So, what are the things we need to remember? (Take-Home Message)
Crigler-Najjar Syndrome is a rare but potentially serious genetic condition. The key is to diagnose the disease early and start proper treatment.
- If your baby's jaundice (yellow color) seems to be more than normal, or if it seems to be going on for a long time, definitely see a doctor. Don't waste time.
- There are two types of this condition; CN1 is the most severe and requires prompt and intensive treatment.
- Phototherapy is the most commonly used treatment. For CN1, a liver transplant is the best and most permanent solution.
- This is a genetic condition and cannot be prevented. However, it is important to seek genetic counseling when planning a family.
The important thing is to know that you are not alone. With the support of doctors, family, and other parents with children like this, you can face this challenge. With proper treatment and loving care, you can help your child live a good, as normal a life as possible.
` Crigler-Najjar Syndrome, Bilirubin, Jaundice, Liver, Genetic disorder, Kernicterus, Phototherapy, Newborns
💬 අදහස් (0)
තවමත් කිසිදු අදහසක් පළ කර නොමැත. ඔබේ අදහස පළමු වරට මෙහි එක් කරන්න.
ඔබේ අදහස එක් කරන්න