Hello I am needing help in a presenation of pathophysiology upper level course.

Question

Hello I am needing help in a presenation of pathophysiology upper level course. I am doing a presentation on kernicterus caused from hyperbilirubin, but I am doing the case as if I am presenting to a class. So it is difficult to get some lab results and test as it seems that total bilirubin levels give away the diagnosis. I guess I am asking how can I explain that the patient has kernicterus from rH incompatabilty? The patient is 9 years old and I iwll add some lab test results that I have included already (see below), if you can just help maybe explain RH incompatability and how I can talk about it in presentation?

History:

Any family history of significance? (hereditary diseases)

Family is originally from South Asia

Family has had a history of neonatal hyperbilirubin  (hereditary)

Any familial history regard kidney or liver failure? Yes mother remembers that one of her family members had a child pass away from liver disease.

Reactive to light and noise? Does not seem to react to noise, mother states that his reaction to noise started to diminish a couple days ago. The patient when tested for reaction to noise was unresponsive and when light test was administered, there were noticeable “odd” eye movements.

What # child is it for mother? First, second, etc..? This is the second child and the first was noted to have jaundice as a neonate and underwent light-therapy for it.

What has his food been intake been prior to him coming in?

Patient has had a decrease in appetite

Changes in mood? The patient has been very fussy and has been constantly crying (high-pitch). Seems to be restless.

How many wet diapers? Dirty diapers?May have been less than usual 3-5 a day

does the baby cry when you touch the abdomen or press it lightly?Yes, the baby does cry when abdomen is pressed upon

Imaging & test requests:

Physical: patient has been in hospital for 5+ hours and nurse has noticed patients back started to arch.

Ultrasound abdomen, specifically kidney and liver:

In the ultrasound you notice that the liver is enlarged, “swollen”.  Hepatic vein dilation, obstruction of common bile duct.

The kidney seems to have thickened renal capsules.

CT

EKG

Iron B12 and Folate levels

Iron: 50 mcg/dl

B12: 55 ng/l

Folate:9 ng/ml

Brain MRI

Light Meter àTranscutaneous bilirubin (TcB) measurement??

abdominal CT scan

reveals hepatomegoly and portal vein dilation

Liver biopsy

Reveals necrotic tissues in the liver

Tuberculosis test-negative

Colonoscopy

ERCP test

Reveals obstruction in the common bile duct

CSF

Elevated WBC:14.53 10^9/L

Elevated protein

Reduced glucose>45 mg/dl

Serum electrolytes

Sodium level :194 mEq/dl

Hepatitis test

Reticulocyte count: less than 1% normal values are 2-6%

Peripheral blood smear

RBC reduced

WBC increased

ABO typing with Rh factor test of MOTHER AND CHILD

Rh-negative and the infant is Rh-positive.????

ABO antibody test

Comb’s Test: Positive

ALT, AST, + ALP (liver tests)

AST: 165 units/L elevated

ALT: 50 units/L elevated

Gram strain to test for sepsis

Tox screen

Bilirubin levels :Total serum bilirubin level 20.7 to 59.9 mg/dl---0.5mg/dL/hr

First round showed bilirubin at 29 mg/dL @

Second round showed it has increased to 32 mg/dl  @

Rushed to emergency room

Blood culture

Explanation / Answer

Kernicterus (Bilirubin encephalopathy) is an acquired metabolic encephalopathy of the neonatal period. Its etiology and pathogenesis overlap to some extent with HIE. Kernicterus is caused by unconjugated hyperbilirubinemia that develops either as a result of hemolytic disease (Rh incompatibility, hereditary spherocytosis, other hemolytic disorders) or because of inability of the liver to conjugate bilirubin. The latter is seen in a rare defect of glucuronyl transferase, the Crigler-Najjar syndrome, and in premature babies in whom this enzyme is not fully functional. Unconjugated (indirect) bilirubin in serum is bound to albumin. Unbound, unconjugated, circulating bilirubin crosses the blood-brain barrier and, because it is lipid soluble, it penetrates neuronal and glial membranes. Hypoalbuminemia, low pH, which weakens the albumin-bilirubin bond, and drugs (salicylates, sulfonamides) that compete with bilirubin for albumin binding, increase the amount of unconjugated unbound bilirubin. Prematurity and low birth weight are the greatest risk factors for bilirubin-induced brain injury.

Kernicterus

High T2 signal in globus pallidus

Bilirubin has a special affinity for the globus pallidus, the hippocampus, and the subthalamic nucleus. Many other structures, including the striatum, thalamus, cranial nerve nuclei, inferior olives and dentate nuclei of the cerebellum are less frequently affected. In the hippocampus, kernicterus involves the CA2-CA3 sectors of the pyramidal layer, unlike HIE, which affects CA1. The reason for the topography of the lesions are not known. In severe kernicterus, affected structures have a bright yellow color (kernicterus means nuclear jaundice). Microscopically, they show neuronal necrosis (eosinophilic neurons similar to HIE) and, in burned-out cases, neuronal loss, gliosis and atrophy. Bilirubin binds to cell membranes and is toxic to neurons and oligodendroglia. It damages mitochondria, inhibits oxidative phosphorylation, and causes calcium release promoting apoptosis. It also stunts axonal and dendritic growth. The acute toxic injury is aggravated by inflammatory reactions of microglia and astrocytes.

Immaturity of the blood-brain barrier probably plays a role in kernicterus. Infusion of bilirubin in experimental animals, after "opening" of the barrier by injecting hypertonic solutions, causes bilirubin staining. Bilirubin encephalopathy affects parts of the brain that are also involved in perinatal HIE. According to one school of thought, kernicterus is simply due to leakage of bilirubin in areas where the blood-brain barrier has been damaged by HIE.

Babies with bilirubin encephalopathy are lethargic, hypotonic or hypertonic, and have a high pitched cry, opisthotonus, seizures, and may die if bilirubin is not lowered. The MRI shows high T2 signal in the globus pallidus. Patients surviving kernicterus have severe permanent neurologic symptoms (choreoathetosis, spasticity, hearing loss, ataxia, mental retardation). Less severe injury is associated with mild neurological abnormalities, including hearing loss, which may be the only abnormality.

Kernicterus as a result of Rh incompatibility is now rare. Rh isoimmunization can be prevented if an Rh negative mother is given an intramuscular injection of anti Rho(D) immune globulin within 72 hours of the birth of an Rh positive baby or in any situation in which significant fetal maternal hemorrhage may have occurred. The systematic use of phototherapy in the NICU reduces bilirubin by breaking it down to water soluble derivatives. The level of bilirubin required to cause kernicterus varies widely, even among mature infants, depending on other risk factors. Some cases of kernicterus are seen in premature babies with relatively modest levels of bilirubin. These babies often also have GMH-IVH and PVL.

Rh Incompatibility

Rh incompatibility is a condition that occurs during pregnancy if a woman has Rh-negative blood and her baby has Rh-positive blood.

"Rh-negative" and "Rh-positive" refer to whether your blood has Rh factor. Rh factor is a protein on red blood cells. If you have Rh factor, you're Rh-positive. If you don't have it, you're Rh-negative. Rh factor is inherited (passed from parents to children through the genes). Most people are Rh-positive.

Whether woman had Rh factor doesn't affect your general health. However, it can cause problems during pregnancy.

When the woman is pregnant, blood from your baby can cross into your bloodstream, especially during delivery. If you're Rh-negative and your baby is Rh-positive, your body will react to the baby's blood as a foreign substance.

Your body will create antibodies (proteins) against the baby's Rh-positive blood. These antibodies usually don't cause problems during a first pregnancy. This is because the baby often is born before many of the antibodies develop.

However, the antibodies stay in your body once they have formed. Thus, Rh incompatibility is more likely to cause problems in second or later pregnancies (if the baby is Rh-positive).

The Rh antibodies can cross the placenta and attack the baby's red blood cells. This can lead to hemolytic anemia in the baby.

Hemolytic anemia is a condition in which red blood cells are destroyed faster than the body can replace them. Red blood cells carry oxygen to all parts of the body.

Without enough red blood cells, your baby won't get enough oxygen. This can lead to serious problems. Severe hemolytic anemia may even be fatal to the child.

A difference in blood type between a pregnant woman and her baby causes Rh incompatibility. The condition occurs if a woman is Rh-negative and her baby is Rh-positive.

When you're pregnant, blood from your baby can cross into your bloodstream, especially during delivery. If you're Rh-negative and your baby is Rh-positive, your body will react to the baby's blood as a foreign substance.

Your body will create antibodies (proteins) against the baby's Rh-positive blood. These antibodies can cross the placenta and attack the baby's red blood cells. This can lead to hemolytic anemia in the baby.

Rh incompatibility usually doesn't cause problems during a first pregnancy. The baby often is born before many of the antibodies develop.

However, once you've formed Rh antibodies, they remain in your body. Thus, the condition is more likely to cause problems in second or later pregnancies (if the baby is Rh-positive).

With each pregnancy, your body continues to make Rh antibodies. As a result, each Rh-positive baby you conceive becomes more at risk for serious problems, such as severe hemolytic anemia.

Rh incompatibility is diagnosed with blood tests. To find out whether a baby is developing hemolytic anemia and how serious it is, doctors may use more advanced tests, such as ultrasound.

Specialists Involved

An obstetrician will screen for Rh incompatibility. This is a doctor who specializes in treating pregnant women. The obstetrician also will monitor the pregnancy and the baby for problems related to hemolytic anemia. He or she also will oversee treatment to prevent problems with future pregnancies.

A pediatrician or hematologist treats newborns who have hemolytic anemia and related problems. A pediatrician is a doctor who specializes in treating children. A hematologist is a doctor who specializes in treating people who have blood diseases and disorders.

Diagnostic Tests

If you're pregnant, your doctor will order a simple blood test at your first prenatal visit to learn whether you're Rh-positive or Rh-negative.

If you're Rh-negative, you also may have another blood test called an antibody screen. This test shows whether you have Rh antibodies in your blood. If you do, it means that you were exposed to Rh-positive blood before and you're at risk for Rh incompatibility.

If you're Rh-negative and you don't have Rh antibodies, your baby's father also will be tested to find out his Rh type. If he's Rh-negative too, the baby has no chance of having Rh-positive blood. Thus, there's no risk of Rh incompatibility.

However, if the baby's father is Rh-positive, the baby has a 50 percent or more chance of having Rh-positive blood. As a result, you're at high risk of developing Rh incompatibility.

If your baby's father is Rh-positive, or if it's not possible to find out his Rh status, your doctor may do a test called amniocentesis.

For this test, your doctor inserts a hollow needle through your abdominal wall into your uterus. He or she removes a small amount of fluid from the sac around the baby. The fluid is tested to learn whether the baby is Rh-positive. (Rarely, an amniocentesis can expose you to Rh-positive blood).

Your doctor also may use this test to measure bilirubin levels in your baby. Bilirubin builds up as a result of red blood cells dying too quickly. The higher the level of bilirubin is, the greater the chance that the baby has hemolytic anemia.

If Rh incompatibility is known or suspected, you'll be tested for Rh antibodies one or more times during your pregnancy. This test often is done at least once at your sixth or seventh month of pregnancy.

The results from this test also can suggest how severe the baby's hemolytic anemia has become. Higher levels of antibodies suggest more severe hemolytic anemia.

To check your baby for hemolytic anemia, your doctor also may use a test called Doppler ultrasound. He or she will use this test to measure how fast blood is flowing through an artery in the baby's head.

Doppler ultrasound uses sound waves to measure how fast blood is moving. The faster the blood flow is, the greater the risk of hemolytic anemia. This is because the anemia will cause the baby's heart to pump more blood.

Rh incompatibility is treated with a medicine called Rh immune globulin. Treatment for a baby who has hemolytic anemia will vary based on the severity of the condition.

Goals of Treatment

The goals of treating Rh incompatibility are to ensure that your baby is healthy and to lower your risk for the condition in future pregnancies.

Treatment for Rh Incompatibility

If Rh incompatibility is diagnosed during your pregnancy, you'll receive Rh immune globulin in your seventh month of pregnancy and again within 72 hours of delivery.

You also may receive Rh immune globulin if the risk of blood transfer between you and the baby is high (for example, if you've had a miscarriage, ectopic pregnancy, or bleeding during pregnancy).

Rh immune globulin contains Rh antibodies that attach to the Rh-positive blood cells in your blood. When this happens, your body doesn't react to the baby's Rh-positive cells as a foreign substance. As a result, your body doesn't make Rh antibodies. Rh immune globulin must be given at the correct times to work properly.

Once you have formed Rh antibodies, the medicine will no longer help. That's why a woman who has Rh-negative blood must be treated with the medicine with each pregnancy or any other event that allows her blood to mix with Rh-positive blood.

Rh immune globulin is injected into the muscle of your arm or buttock. Side effects may include soreness at the injection site and a slight fever. The medicine also may be injected into a vein.

Treatment for Hemolytic Anemia

Several options are available for treating hemolytic anemia in a baby. In mild cases, no treatment may be needed. If treatment is needed, the baby may be given a medicine called erythropoietin and iron supplements. These treatments can prompt the body to make red blood cells.

If the hemolytic anemia is severe, the baby may get a blood transfusion through the umbilical cord. If the hemolytic anemia is severe and the baby is almost full-term, your doctor may induce labor early. This allows the baby's doctor to begin treatment right away.

A newborn who has severe anemia may be treated with a blood exchange transfusion. The procedure involves slowly removing the newborn's blood and replacing it with fresh blood or plasma from a donor.

Newborns also may be treated with special lights to reduce the amount of bilirubin in their blood. These babies may have jaundice (a yellowish color of the skin and whites of the eyes). High levels of bilirubin cause jaundice.

Reducing the blood's bilirubin level is important because high levels of this compound can cause brain damage. High levels of bilirubin often are seen in babies who have hemolytic anemia. This is because the compound forms when red blood cells break down.

Kernicterus

High T2 signal in globus pallidus

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