LO

Classic galactosemia (GALT) is an inherited condition in which the body is unable to properly digest
galactose, a sugar found in all foods that contain milk. If a child with GALT eats galactose, undigested
sugars build up in the blood rather than being used for energy. If GALT is left untreated, it can cause
seizures, serious blood infections, liver damage, or even death. However, when the condition is
identified early in life and proper treatment is begun immediately, children with GALT often can lead
healthy lives.
Classic galactosemia (GALT) occurs in 1 in every 30,000 to 60,000 newborns. GALT occurs in people of all
ethnic groups, but it is most common in people of Irish descent.

Follow-up testing will involve a blood test and a urine test to measure the amount of certain

substances present in your baby’s body. Undigested sugars build up in the body when a child has

GALT, so measuring the amounts of these sugars and other substances can help doctors determine

if your baby has a condition. Individuals with GALT have low levels of GALT enzyme and high

amounts of undigested sugars in their body. Genetic testing for classic galactosemia may also be

necessary to confirm the diagnosis.

Signs of classic galactosemia (GALT) can appear within a few days after birth.
Early signs of GALT include:
 Poor weight gain and growth (known as failure to thrive)
 Poor feeding and sucking
 Vomiting
 Diarrhea
 Sleeping longer or more often
 Tiredness
 Irritability
 Low blood sugar (hypoglycemia)


BENIGN LIVER TUMORS IN INFANTS

Hepatic hemangioma
Hepatic hemangioma (HH) is the most
common benign liver tumor of infancy and it
must be differentiated from misnamed hepatic
hemangiomas seen in adults, which correspond
actually to hepatic venous malformations[
A liver hemangioma (he-man-jee-O-muh) is a
noncancerous (benign) mass in the liver. A
liver hemangioma is made up of a tangle of
blood vessels. Other terms for a liver
hemangioma are hepatic hemangioma and
cavernous hemangioma.
 SYMPTOMS

THE LIVER
In most cases, a liver hemangioma doesn't cause any signs or symptoms.

When a liver hemangioma causes signs and symptoms, they may include:

 Pain in the upper right abdomen

 Feeling full after eating only a small amount of food

 Nausea

 Vomiting

C AUSES

It's not clear what causes a liver hemangioma to

form. Doctors believe liver hemangiomas are
congenital — meaning that you're born with them.
A liver hemangioma usually occurs as a single
abnormal collection of blood vessels that is less
than about 1.5 inches (about 4 centimeters) wide.
Occasionally liver hemangiomas can be larger or
occur in multiples. Large hemangiomas can occur
in young children but this is very rare. In most
people, a liver hemangioma will never grow and
never cause any signs and symptoms. But in a
small number of people, a liver hemangioma will
grow to cause complications and require treatment. It's not clear why this happens.
 Treatment options may include:

 Surgery to remove the liver hemangioma. If the hemangioma can be easily

separated from the liver, your doctor may recommend surgery to remove the
mass.

 Surgery to remove part of the liver, including the hemangioma. In some

cases, surgeons may need to remove a portion of your liver along with the
hemangioma.

 Procedures to stop blood flow to the hemangioma. Without a blood supply,

the hemangioma may stop growing or shrink. Two ways to stop the blood flow
are tying off the main artery (hepatic artery ligation) or injecting medication into
the artery to block it (arterial embolization). Healthy liver tissue is unharmed
because it can draw blood from other nearby vessels.

 Liver transplant surgery. In the unlikely event that you have a large
hemangioma or multiple hemangiomas that can't be treated by other means,
your doctor may recommend surgery to remove your liver and replace it with a
liver from a donor.

 Radiation therapy. Radiation therapy uses powerful energy beams, such as X-

rays, to damage the cells of the hemangioma. This treatment is rarely used
because of the availability of safer and more effective treatments.

MESENCHYMAL HAMARTOMA
Mesenchymal hamartoma is the second most frequent benign liver tumor in young
children and constitutes approximately 8% of all tumors in this population, with 80%
of these tumors presenting within the first two years of life [1]. The clinical picture
includes gastrointestinal symptoms, weight loss, and anorexia. The physical
examination of affected individuals includes a palpable homogeneous abdominal
mass, malnutrition, and in advanced cases respiratory distress [2]. Elevated alpha-
fetoprotein levels mandate a differential diagnosiswith hepatoblastoma, using
radiological and pathology tests. Clinical presentations of MHL differ from an asymptomatic
mass (which accidentally to be discovered during the imaging) to cause symptoms such as
abdominal distention, pain, respiratory distress, heart failure, anorexia, vomiting, weight loss,
vascular steal, thrombocytopenia, intralesional hemorrhage, pulmonary hypertension, ascites
(due to rupture of the tumor), edema of the legs, obstructive jaundice and smooth, large, not
painful hepatomegaly.
Treatment
 Excision (curative but surgery has high mortality for large masses)
 Liver transplantation may be necessary (J Clin Pathol 2006;59:542)
 MALIGNANT LIVER TUMORS IN INFANTS

HEPATOBLASTOMA
Hepatoblastoma is a very rare cancerous tumor that starts in the liver. This disease primarily affects
children from infancy to about 3 years of age. Hepatoblastoma cancer cells can spread (metastasize) to
other areas of the body, but this is rare.

What causes hepatoblastoma?

Although the exact cause of liver cancer is unknown, there are a number of genetic conditions that are
associated with an increased risk for developing hepatoblastoma, including Beckwith-Wiedemann
syndrome, Wilson disease, porphyria cutanea tarda, and familial adenomatous polyposis. Other genetic
conditions associated with liver cancer include several inborn errors of metabolism such as tyrosinemia,
glycogen storage diseases, and alpha1-antitrypsin deficiency.

Children who are exposed to hepatitis B or hepatitis C infection at an early age, or those who have biliary
atresia, are also at increased risk for developing hepatocellular carcinoma. Some hepatoblastomas have
genetic alterations in tumor suppressor genes, which would explain the uncontrolled cell growth.

Symptoms may include:

 A large abdominal mass, or swollen abdomen

 Weight loss, decreased appetite

 Early puberty in boys

 Abdominal pain

 Nausea and vomiting

 Jaundice (yellowing of the eyes and skin)

 Fever

 Itching skin

 Enlarged veins on the belly that can be seen through the skin

WHAT IS THE TREATMENT FOR HEPATOBLASTOMA?

Specific treatment for hepatoblastoma will be determined by your child's doctor based on:

 Your child's age, overall health, and medical history

 Extent of the disease

 Your child's tolerance for specific medications, procedures, and therapies

 Expectations for the course of the disease

 Your opinion or preference

Other forms of treatment may include (alone or in combination):

 Surgery to remove tumor and part or all of the liver

 Chemotherapy
 Liver transplant

 Radiation therapy

 Percutaneous ethanol injection. A small needle is used to inject an alcohol called ethanol right into the
tumor to kill cancer cells

 Watchful waiting. Not starting treatment until symptoms appear or change

PROTHROMBIN TIME BLOOD TEST (PT)

This test is done to evaluate the blood for its ability to clot. It is often done before surgery to evaluate how
likely the patient is to have a bleeding or clotting problem during or after surgery. Common causes of a
prolonged PT include vitamin K deficiency, hormone drugs including hormone replacements and oral
contraceptives, disseminated intravascular coagulation (a serious clotting problem that requires immediate
intervention), liver disease, and the use of the anti-coagulant drug warfarin. Additionally, the PT result can
be altered by a diet high in vitamin K, liver, green tea, dark green vegetables, and soybeans.

P ARTIAL THROMBOPLASTIN TIME BLOOD TEST (PTT)

This test is performed primarily to determine if heparin (blood thinning) therapy is effective. It can also be
used to detect the presence of a clotting disorder. It does not show the effects of drugs called “low
molecular weight heparin” or most commonly by the brand name Lovenox. Extended PTT times can be a
result of anticoagulation therapy, liver problems, lupus, and other diseases that result in poor clotting. The
partial thromboplastin time (PTT) is a screening test that helps evaluate a person's ability to
appropriately form blood clots. It measures the number of seconds it takes for a clot to form
in a person's sample of blood after substances (reagents) are added. The PTT assesses the
amount and the function of certain proteins
called coagulation factors that are an important
part of blood clot formation.
Selamat malam, Kebocoran protein berupa albumin dalam urine disebut albuminuria.
Pada keadaan normal, seharusnya protein tidak bocor ke dalam urine. Adanya
kerusakan penyaring di ginjal dapat menyebabkan protein (albumin) dari darah
bocor ke dalam urine sehingga timbul albuminuria. Adanya albuminuria di urine
dapat menjadi tanda awal kerusakan ginjal, paling sering disebabkan oleh diabetes
maupun tekanan darah tinggi. Faktor risiko dan penyebab seseorang mengalami
albuminuria:

 kegemukan
 usia lebih dari 65 tahun
 riwayat keluarga dengan penyakit ginjal
 preeklamsia dalam masa kehamilan, disertai dengan tekanan darah tinggi
 infeksi, toksin, trauma
 penyakit di sistem imun
 mieloma multipel
 obat-obatan
 dehidrasi
 infeksi saluran kemih yang sudah mengganggu ginjal
 A feeding tube, also
known as a gavage
tube, is used to give
nutrition to infants who
cannot eat on their
own. The feeding tube is normally used in a hospital, but it can be used at home
to feed infants. The tube can also be used to give medication to an infant. The
feeding tube can be inserted and then removed for each feeding. Or it can be an
indwelling feeding tube, which means it remains in the infant for multiple
feedings. The feeding tube can be used to give both breast milk and formula.

A feeding tube is a small, soft, plastic tube placed through the nose (NG) or mouth (OG) into the
stomach. These tubes are used to provide feedings and medicines into the stomach until the
baby can take food by mouth.

WHY IS A FEEDING TUBE USED?

Feeding from the breast or bottle requires strength and coordination. Sick or premature babies
may not be able to suck or swallow well enough to bottle or breastfeed. Tube feedings allow the
baby to get some or all of their feeding into the stomach. This is the most efficient and safest way
to provide good nutrition. Oral medicines can also be given through the tube.
 There is a very large number of metabolic pathways. In humans, the most important
metabolic pathways are:

 GLYCOLYSIS - GLUCOSE OXIDATION IN ORDER TO OBTAIN ATP

 CITRIC ACID CYCLE (KREBS' CYCLE ) - ACETYL -CO A OXIDATION IN ORDER TO
OBTAIN GTP AND VALUABLE INTERMEDIATES .
 OXIDATIVE PHOSPHORYLATION - DISPOSAL OF THE ELECTRONS RELEASED BY
GLYCOLYSIS AND CITRIC ACID CYCLE . MUCH OF THE ENERGY RELEASED IN THIS
PROCESS CAN BE STORED AS ATP.
 PENTOSE PHOSPHATE PATHWAY - SYNTHESIS OF PENTOSES AND RELEASE OF THE
REDUCING POWER NEEDED FOR ANABOLIC REACTIONS.
 UREA CYCLE - DISPOSAL OF NH4+ IN LESS TOXIC FORMS
 FATTY ACID Β -OXIDATION - FATTY ACIDS BREAKDOWN INTO ACETYL -COA, TO BE
USED BY THE KREBS ' CYCLE .
 GLUCONEOGENESIS - GLUCOSE SYNTHESIS FROM SMALLER PERCURSORS, TO BE USED
BY THE BRAIN .
 WHAT ARE NORMAL LEVELS OF AST AND ALT?
 The normal range of values for AST (SGOT) is about 10 to 40 units per
liter of serum (the liquid part of the blood).

 The normal range of values for ALT (SGPT) is about 7 to 56 units per
liter of serum.

High levels of ALT in the blood can indicate a liver problem, even before you have signs of liver
disease, such as jaundice, a condition that causes your skin and eyes to turn yellow. An ALT
blood test may be helpful in early detection of liver disease.

The ALT test is usually used to determine whether someone has liver injury or
failure. Your doctor may order an ALT test if you’re having symptoms of liver
disease, including:
 jaundice, which is yellowing of your eyes or skin
 dark urine
 nausea
 vomiting
 pain in the right upper quadrant of your abdomen

What do my ALT test results mean?

NORMAL RESULTS

The normal value for ALT in blood ranges from 29 to 33 units per liter (IU/L) for
males and 19 to 25 IU/L for females, but this value can vary depending on the
hospital. This range can be affected by certain factors, including gender and age.
It’s important to discuss your specific results with your doctor.

ABNORMAL RESULTS

Higher-than-normal levels of ALT can indicate liver damage. Increased levels of

ALT may be a result of:

 hepatitis, which is an inflammatory condition of the liver

 cirrhosis, which is severe scarring of the liver
 death of liver tissue
 a tumor or cancer in the liver
 a lack of blood flow to the liver
 hemochromatosis, which is a disorder that causes iron to build up in the body
 mononucleosis, which is an infection usually caused by the Epstein-Barr virus
 pancreatitis, which is an inflammation of the pancreas
 diabetes

How are the AST test results interpreted?

AST test results vary based on the laboratory completing the analysis, and the
typical ranges reported. The ranges for normal levels also differ depending on
your sex and age. Recent research has shown that even mild increases in AST can
be a sign of a liver problem that requires further investigation. The American
College of Gastroenterology recommends that all abnormal AST results receive
follow up.

POSSIBLE LIVER CONDITIONS BASED ON LEVELS OF AST

ELEVATION

 AST results outside of expected range and less than 5x expected

range: hepatitis B, hepatitis C, alcoholic and nonalcoholic fatty liver,
 hemochromatosis, Wilson’s disease, autoimmune hepatitis, alpha-1
antitrypsin deficiency, medication
 AST results between 5 to 15x expected range: acute viral hepatitis, any of
the conditions related to lower levels of AST changes
 AST results more than 15x expected range: acetaminophen (Tylenol)
poisoning, shock liver (loss of liver blood supply)

The symptoms of liver disease that may cause your doctor to order an AST
test include:
 fatigue.
 weakness.
 a loss of appetite.
 nausea.
 vomiting.
 swelling of your abdomen.
 yellow skin or eyes, which is called jaundice.
 dark urine.

Some of the other conditions that cause AST levels in your liver to be abnormal
are:

 cirrhosis
 liver cancer
 autoimmune diseases
 certain genetic disorders
 nonalcoholic fatty liver disease (NAFLD)
 liver trauma in physical injury