Liver diseases

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Children's Hospital
Rue willy-Donzé 6
1205 Geneva
Switzerland

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The Swiss pediatric liver center - HUG
Rue willy-Donzé 6
1211 Geneva 14
Switzerland

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Switzerland

Barbara Wildhaber
Prof
Barbara Wildhaber
Chief Medical Officer of the Pediatric Surgery Division
Valérie McLin
Prof
Valérie McLin
Attending Physician in the Gastroenterology, Hepatology and Pediatric Nutrition Unit
Contenu

Pediatric liver diseases vary. Unlike in adults, they are not associated with lifestyle habits, but are most often linked to a congenital problem. It is important to note that pediatric liver diseases are all rare.

Therefore, if your child's illness is not on this list, it is because we chose to summarize the most common ones.

Atresia of the bile ducts

What is biliary atresia ?

Contenu

Biliary atresia is characterized by an obstruction of bile ducts (all the channels that collect bile synthesized in the liver and transport it to the intestine) that occurs in the perinatal period. It is the most common cause of neonatal cholestasis (biliary retention). It is a rare disease and affects 1 live birth in 18,000 in Europe. Girls are affected a little more often than boys.

What is the cause ?

Contenu

Biliary atresia is a non-hereditary disease of unknown origin.

What are the symptoms ?

Contenu

The diagnosis is determined with the presence of yellowing of the skin (jaundice) at birth, discolored stools (light yellow, gray) and hepatomegaly (an increase in liver volume, which is detected with palpation).

What are the treatments ?

Contenu

Left untreated, bile duct atresia progresses to biliary cirrhosis (narrowing of the liver with severe deterioration of its functionality) within a few months, and leads to the child's death in the first few years of life.

Because there is no medicinal treatment for biliary atresia, it is advisable to perform a Kasaï intervention (hepato-porto-enterostomy). This intervention must be performed quickly once the diagnosis is determined in order to restore the flow of bile to the intestines. In case of progression of biliary cirrhosis despite the operation, liver transplantation is required.

What is the prognosis ?

Contenu

Around 40% of children with bile duct atresia require liver transplantation before the age of 5, and 80% of children undergo transplantation before the age of 20. It is important to note that patient survival is very good (approaching 100%), with a quality of life that is close to normal for most of them.

Progressive intrahepatic familial cholestasis

What is progressive intrahepatic familial cholestasis ?

Contenu

This designation refers to rare genetic liver diseases known as PFIC (Progressive Familial Intrahepatic Cholestasis). They are characterized by an accumulation of bile (cholestasis) in the liver. Due to the faulty transport of bile from hepatocytes (liver cells) to the bile ducts, bile accumulates in the hepatocytes, which are then exposed to the toxic effects of bile acids.

Four types of PFICs have been identified based on the molecules affected by this genetic disease :

  • FIC1 (PFIC-1)
  • BSEP (PFIC-2)
  • MDR-3 (PFIC-3)
  • TJP2 (PFIC-4).

They affect one newborn in 50,000 to 100,000 births.

How are they transmitted ?

Contenu

PFICs diseases that are transmitted in an autosomal recessive manner. In order for the disease to manifest itself, a child must have inherited two defective (recessive) genes, one from each parent. If the parents are not sick, they are considered to be “carriers” of this recessive gene.

More and more studies suggest that carriers may develop the disease but at a later age.

What are the symptoms ?

Contenu

Symptoms appear most often during the first year of life and the disease then develops into cirrhosis. The most common symptom is intense, debilitating pruritis (itching). In babies, deterioration of the baby’s general condition is seen because of the constant discomfort caused by the itching.

Unlike other causes of cholestasis, there is not much visible yellowing of the skin. Growth delays and vitamin deficiencies are also observed. However, manifestations vary depending on the type of PFIC.

  • PFCI-1 is a so-called systemic form (affects several organs), which causes diarrhea, pancreatitis, pneumonia and deafness.
  • PFIC-2 only affects the liver, but it is a more severe form with a risk of developing liver cancer.
  • PFIC-3 is of variable severity ranging from gallstones to cirrhosis.
  • PFIC-4 is another so-called systemic form that is especially associated with hearing disorders.

How is it diagnosed ?

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By performing blood tests, including genetic tests and a liver biopsy. This examination is performed under general anesthesia.

What are the treatments ?

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There is no medicine that will cure it completely. The goal is to facilitate biliary flow to reduce pruritus. Medication such as ursodeoxycholic acid or rifampicin are initially prescribed.

For some cases of PFIC-2, experimental treatments are available. If symptoms persist, surgery may be offered to divert part of the bile flow to either :

  • The skin (in a pocket)
  • The intestine

If the situation worsens despite these interventions (refractory pruritis or cirrhosis), then we resort to a liver transplantation.

What is the prognosis ?

Contenu

he prognosis without liver transplantation is progression to cirrhosis and the risk of liver cancer. The prognosis with liver transplantation is excellent. However, cases of a disease resembling a recurrence of PFIC-2 after a liver transplant have been described.

Congenital liver fibrosis, Caroli disease, Caroli syndrome

What are these diseases and what are their symptoms ?

Congenital liver fibrosis

Contenu

The liver becomes progressively filled with bridges of fibrosis (tissue shrinkage). Blood can no longer pass through the liver normally. This results in increased blood pressure in the vessels upstream from the liver, especially the portal vein (portal hypertension).

Splenomegaly (an increase in spleen volume) is the consequence, as well as varicose veins in the esophagus (dilation of veins around the esophagus) that can be associated with gastrointestinal hemorrhaging (bleeding).

Caroli disease

Contenu

This involves abnormal dilation of bile ducts in the liver. The transport of bile from the liver to the intestine is slowed down and the patient can develop jaundice (yellowing of the skin). Because bile tends to stagnate in the ducts, they can become infected (cholangitis). Since this cholangitis can be severe, it often requires intravenous antibiotic treatment.

Another complication of Caroli's disease is gallstones, which can lead to biliary colic or episodes of pancreatitis.

Caroli syndrome

Contenu

A more common variant of this disease, called Caroli syndrome, is characterized by dilation of the large bile ducts in association with congenital liver fibrosis. Patients with Caroli syndrome have significant liver fibrosis, which may result in the combined symptoms of the two diseases discussed above.

This syndrome may be associated with autosomal recessive polycystic kidney disease (development of cysts in the kidneys) and other hereditary diseases called «ciliopathies».

How are they transmitted ?

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Congenital liver fibrosis and Caroli syndrome are rare genetic diseases that can develop starting in early childhood.

Caroli's disease can occur at any age and affects mainly girls and women. Its etiology is unknown and its occurrence is sporadic.

How is it diagnosed ?

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Diagnosis is based on imaging (ultrasound scan, CT scan, or magnetic resonance cholangiography). Sometimes direct cholangiography (visualization of the bile tree through the injection of a contrast agent) and a liver biopsy are required. Cases of prenatal diagnosis by ultrasound scan have been reported.

What are the treatments ?

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In case of excessive portal hypertension, recurrent infections or severe disruption of liver function, the treatment of choice is liver transplantation. In case of severe renal impairment, a kidney transplant could also be proposed.

In the case of Caroli disease, management depends on the clinical presentation, the location and the disease's state of progress. Treatment may be conservative (antibiotics, ursodeoxycholic acid, biliary drainage) or surgical (including liver transplantation as a last resort).

What is the prognosis ?

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The prognosis varies and depends on the frequency and severity of cholangitis episodes, the presence of associated diseases, and the increased risk of cancer of the bile ducts.

Fulminant hepatitis or acute liver failure

What is acute liver failure ?

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Acute hepatocellular failure (or acute liver failure) is a critical condition that is life-threatening. Hepatocytes (liver cells) work insufficiently, which can lead to serious complications.

What are the causes ?

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There are multiple causes, but they are only identified in about 50% of cases. Some of the known causes include :

  • Metabolic diseases
  • Auto-immune diseases: antibodies produced by the affected organism attack and destroy liver cells
  • Certain substances that are toxic to the liver.
  • Some medication becomes toxic to the liver when it is overdosed (such as paracetamol, often used for pain and fever).
  • “Amanita” mushrooms are an example of a non-medicinal substance that is toxic to the liver.
  • Infections, especially viral infections.

What are the symptoms ?

Contenu

Acute hepatocellular failure occurs suddenly in an apparently healthy patient. Symptoms can vary :

  • A state of consciousness disorder: children become disoriented, agitated, even comatose.
  • Coagulation disorders: bleeding with no visible injury
  • An accumulation of fluid in the abdomen, called “ascites."
  • Kidney failure
  • Metabolic problems, such as low blood sugar (hypoglycemia).

Signs depend on the origin of the liver failure. Doctors usually monitor the child closely in intensive care and try to maintain the functionality of their various organs, including the liver.

If the situation becomes critical, emergency liver transplantation is the only treatment possible.

What is the prognosis ?

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The critical stage is prior to liver transplantation. Afterwards, the prognosis for survival is excellent, although depending on the primary disease, there can be consequences, especially neurological.

Hepatoblastoma and tumors in a child's liver

What are liver tumors ?

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These occur rarely in children, and represent 1% of all solid pediatric tumors; they are malignant in two-thirds of cases.

Benign liver tumors

Contenu

They are mostly of vascular origin (hemangioma, hemangioendothelioma), followed, in order of frequency, by congenital mesenchymal hamartoma, focal nodular hyperplasia and adenoma.

Malignant liver tumors

Contenu

The majority (90%, excluding metastases) are divided into two groups :

  • Hepatoblastoma, which usually occurs before the age of 3 years; its annual incidence is 1 case in 1 million children.
  • Hepatocellular carcinoma, which is much more rare, occurs in adolescents. If it is associated with pre-existing liver disease, it often appears earlier in childhood. 

Finally, a third type of tumor exists, which is much more rare. This is sarcoma, which represents 10% of malignant liver tumors and generally affects school aged children.

What are the symptoms ?

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The tumor most often takes the form of an abdominal mass, which is usually palpable, and is sometimes accompanied by abdominal pain.

How is it diagnosed ?

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The assessment is done with a CT scan or nuclear magnetic resonance imaging (MRI). The images allow for the evaluation of the extent of the tumor. Often, a biopsy of the tumor is carried out under general anesthesia in order to figure out what its precise nature is and to offer the most appropriate treatment.

What are the treatments ?

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For benign tumors, simple ultrasound monitoring is often indicated and surgery should rarely be performed.

The goal for treating malignant tumors is to achieve complete surgical removal of the tumor.

This procedure is almost always accompanied by chemotherapy before and after the operation. In some cases, interventional radiology techniques are proposed.

What is the prognosis ?

Contenu

Advances in medico-surgical management of malignant tumors have greatly contributed to the improvement of the prognosis for children with one of these tumors.

Portal hypertension
Contenu

What is portal hypertension and how is it treated? What is the function of the liver? What happens when the liver is diseased? An animated video has been specially created for children and parents interested in this subject, to better understand portal hypertension.

Created by Pre Valérie McLin (Attending Physician, Swiss pediatric liver center ,and Gastroenterology, Hepatology and Pediatric Nutrition Unit, HUG), this clip has been produced by the Toysfilms company, thanks to the support of the Gourgas Foundation.

Meso-Rex shunt

Contenu

As mentioned in the video, the most common cause of portal hypertension in children is an obstruction of the portal vein outside the liver, called portal cavernoma. It can lead to bleeding esophageal varices or other problems. In this case, surgical treatment can be provided in most cases.

The video talks about a "shunt": this is the classic Rex shunt, also called the meso-Rex shunt. It is a kind of bridge to bypass the obstacle outside the liver, the portal cavernoma: the surgeons use a vein from the child's neck, which can easily be removed, and that will be placed between a large vein of the intestine, the superior mesenteric vein, and the Rex space, a location of the portal vein in the liver that is quite easily accessible by the surgeon. 

In this way, the blood flow, blocked by the cavernoma and in hyperpressure, finds its way back easily through the bridge called the meso-Rex shunt, and can finally flow again normally, without resistance, through the liver. The physiological circuit is restored!

shunt_foie_ang

Choledochal cyst

What is a choledochal cyst ?

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This term refers to congenital dilation of the main bile duct (which brings bile from the liver to the intestine) and/or of the intrahepatic bile ducts (in the liver).

The cyst can develop when the junction between the main bile duct and the pancreatic duct is too far from the intestine. Pancreatic juices (which are irritating) then flow back to the liver through the common bile duct.

This phenomenon causes irritation and promotes the development of a cyst. Its occurrence is very rare, with an incidence in Europe of 1 case in 100,000 births, but the tendency is for it to occur more frequently.

What are the symptoms ?

Contenu

In a small child a choledochal cyst can cause painful abdominal crises or pancreatitis (inflammation of the pancreas), or yellowing of the skin (jaundice), or even the formation of a mass in the right side of the abdomen. Consequences over the very long term may be biliary cirrhosis (shrinkage of the liver with deterioration of its functionality) or, in 30% of cases in adulthood, progression towards cancer of the bile duct.

How is it diagnosed ?

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Diagnosis before birth is possible if choledochal dilation is significant and visible in prenatal ultrasounds. The main risk is to confuse it with bile duct atresia (see the section on bile duct atresia) in cystic form, which would require urgent treatment, while a choledochal cyst can be removed later, at around the age of 3-6 months.

After birth, the diagnosis is made through an ultrasound scan and a magnetic resonance cholangiopancreatography (cholangio-MRI) allows for a definition of the exact morphology of the cyst. 

What are the treatments ?

Contenu

Treatment is always through surgery. It should be performed on a non-emergency basis, but rather quickly after the diagnosis, in order to limit the development of liver fibrosis/cirrhosis or cyst complications. The surgery includes :

  • ablation of all major bile ducts (extra –hepatic) that could develop into cancer (including the gall bladder)
  • reconstruction of the bile duct by an intestinal loop that is mounted to the liver and sutured to the intrahepatic bile duct.

What is the prognosis ?

Contenu

Postoperative results are excellent and there are usually no consequences during recovery.

However, prolonged monitoring with an annual ultrasound scan is required to detect the possible development of a residual millimetric bile duct cancer outside the liver, an extremely rare event.

Wilson’s disease

What is Wilson’s disease ?

Contenu

It is characterized by the toxic accumulation of copper in various organs, mainly the liver and brain.

If affects between 1 person in 30,000 to 1 person in 100,000, depending on the country.

How is it transmitted ?

Contenu

Wilson’s disease is a rare hereditary genetic disease. It is transmitted in an autosomal recessive manner, i.e. the gene responsible for the disease is recessive.

In order for the disease to manifest itself, a child must have inherited two defective (recessive) genes, one from each parent. If the parents are not sick, they are considered to be “carriers” of this recessive gene.

What are the symptoms ?

Contenu

They do not appear until the age of 3 years and most often in adolescence (10-20 years). It takes several years before the accumulation of copper becomes toxic to the body.

Liver involvement may be manifested by the appearance of yellowing of the skin (jaundice), increased liver volume (hepatomegaly) and in the most advanced cases, by fluid accumulation in the abdomen, which is called “ascites.”

Brain involvement occurs later in adolescence. The symptoms vary depending on the damaged area: difficulties in school, tremors, swallowing disorders, difficulties with writing or speech.

Some patients may also have psychiatric disorders.

How is it diagnosed ?

Contenu

It is difficult to determine and requires various complementary tests: blood tests and urinalyses, and often a liver biopsy. A search for a genetic mutation is carried out in the child to confirm the diagnosis, and in family members to identify carriers of the disease.

What are the treatments ?

Contenu

There is a drug therapy that needs to be taken on a lifelong basis. It focuses on decreasing the level of copper in the body.

What is the prognosis ?

Contenu

It depends on early diagnosis and how quickly treatment is initiated. If the diagnosis of Wilson's disease is late (for example, in adolescence), the severity of liver damage often requires a liver transplant.

If the diagnosis is made in adulthood, the neurological consequences are often irreversible.

Alpha-1-antitrypsin deficiency

What is alpha-1-antitrypsin deficiency (a1at) ?

Contenu

A1AT is a protein made by the liver that normally circulates in the blood. It protects the organs against the aggression of enzymes that are released by certain cells during inflammation (an infection, for example).

In this disease, A1AT remains in the liver and does not provide any protection. Enzymes are no longer neutralized and attack mainly the lungs by gradually destroying them. This leads to emphysema (presence of air bubbles in lung tissue).

How is it transmitted ?

Contenu

A1AT deficiency is a genetic disease. It is due to a gene mutation that controls the production of A1AT. It is transmitted in an autosomal recessive manner, i.e. the gene responsible for the disease is recessive. In order for the disease to manifest itself, a child must have inherited two defective (recessive) genes, one from each parent.

If the parents are not sick, they are considered to be “carriers” of this recessive gene.

What are the symptoms ?

Contenu

In the lungs, they often appear in adulthood and are aggravated by tobacco: shortness of breath, coughing, wheezing while breathing and pulmonary infections.

In the liver, an A1AT deficiency causes inflammation (hepatitis), which can lead to cirrhosis. Sometimes jaundice can occur at birth or later.

Symptoms can vary. Some patients remain asymptomatic

How is it diagnosed ?

Contenu

In general, a simple blood test is enough to diagnose this disease by measuring the amount of A1AT in the blood. Other tests can be done to more accurately describe the type of deficiency and to evaluate the condition of the liver: an ultrasound scan of the abdomen, other blood tests and a liver biopsy.

What are the treatments ?

Contenu

To treat pulmonary symptoms occurring in adulthood, bronchodilators and corticosteroids are used. It is strongly recommended that the child is never exposed to smoke.

It is also recommended that the patient is vaccinated against bacteria and viruses that can damage the lungs and liver (influenza, pneumococcus, hepatitis A and B).

In very severe forms of A1AT deficiency, we may resort to a liver or lung transplantation.

Lysosomal acid lipase deficiency (LAL-D)

What is lysosomal acid lipase deficiency (lal-d)?

Contenu

LAL is a protein made by the liver that normally circulates in the blood. It assists with the breakdown of fats in the body.

A deficiency of this protein causes an accumulation of lipids, particularly cholesterol esters and triglycerides, in the liver, heart and other organs, which disrupts their functionality.

This genetic disease causes liver complications and high cholesterol levels in the blood.

How is it transmitted ?

Contenu

It is a genetic disease due to the LIPA gene mutation. It is transmitted in an autosomal recessive manner, i.e. the gene responsible for the disease is recessive.

In order for the disease to manifest itself, a child must have inherited two defective (recessive) genes, one from each parent. If the parents are not sick, they are considered to be “carriers” of this recessive gene.

What are the symptoms ?

Contenu

It can affect people of all ages, from birth to adulthood.

  • In infants, the symptoms are severe and occur in the first few months: severe malabsorption (diarrhea), growth delays, fibrosis and livercirrhosis.
  • In children, symptoms usually appear around the age of five.

In the liver, an increase in the number of liver enzymes is seen, as well as hepatomegaly (increased liver volume), which can progress to fibrosis, cirrhosis and liver failure.

At the cardiovascular level, an increase in bad cholesterol (LDL) is seen, as well as a decrease in the level of good cholesterol (HDL) and accelerated atherosclerosis.

How is it diagnosed ?

Contenu

As is often the case with other rare diseases, diagnosis is frequently delayed because LAL deficiency is often confused with other more common diseases. Since people with LAL deficiency have very little or no LAL enzymes in the blood, it can be diagnosed using an enzyme blood test.

What are the treatments ?

Contenu

There is a treatment called sebelipase-alpha that has been proven in both early presentation in newborns and older children.

What is the prognosis ?

Contenu

If the disease occurs in an infant, it can be extremely severe or even fatal. If the disease occurs later, it is less severe. In some cases, liver transplantation can be a treatment option.

Biliary lithiasis

What is biliary lithiasis ?

Contenu

This involves the presence of stones in the gallbladder and in the intra and extra-hepatic bile ducts (inside and outside of the liver).

What are the causes ?

Contenu

The origin of the biliary lithiasis in a child is found in only 30% of cases. Sometimes it is due to excess cholesterol in the blood. 

It occurs more often in certain chronic diseases, for example hemolytic blood diseases, through prolonged parenteral nutrition, or by extensive resections of the small intestine.

What are the symptoms ?

Contenu

Biliary lithiasis is often asymptomatic and is only accidentally detected during an abdominal ultrasound scan. However, it can cause abdominal pain, called "biliary colic."

Two major complications are acute cholecystitis (inflammation of the gallbladder) and gallstone migration into the main bile duct with a risk of biliary retention (associated with jaundice) or pancreatitis (inflammation of the pancreas).

How is it diagnosed ?

Contenu

An abdominal ultrasound scan allows for a diagnosis and this can be supplemented by magnetic resonance cholangiopancreatography (cholangio-MRI).

A blood test is also performed in addition to the imaging to find the origin of the lithiasis and of any irritation in the liver and/or pancreas.

What are the treatments ?

Contenu

Biliary lithiasis is asymptomatic, with no known cause, and is simply monitored because spontaneous disappearance of the disease is possible.

Biliary lithiasis that is symptomatic or secondary to chronic hemolysis (destruction of red blood cells with anemia, such as in cases of sickle cell disease or spherocytosis), requires surgical treatment, which consists of removing the gall bladder via laparoscopy.

A cholangiogram (visualization of the bile ducts) is often performed during surgery to eliminate a stone that is "stuck" in the bile duct.

In infants, percutaneous cholangiography often clears the bile duct of obstructed stones, but sometimes a laparotomy must be performed.

Auto-immune diseases

What are so-called auto-immune diseases of the liver ?

Contenu

Auto-immune hepatitis (AIH) and sclerosing cholangitis are auto-immune diseases, which means that the body attacks its own cells. In other words, antibodies produced by the body attack the liver.

How is it diagnosed ?

Contenu

Auto-immune hepatitis is more common in girls. The diagnosis is determined through a biopsy of the liver, which shows organ damage. Blood test results are disrupted and can detect the presence of certain antibodies in the blood.Sclerosing cholangitis (PSC or primary sclerosing cholangitis) is more common in boys. It can be associated with inflammatory bowel diseases (Crohn’s disease, ulcerative colitis).

The diagnosis is also determined through a liver biopsy and blood tests (presence of auto-antibodies). Imaging is also used to look for dilation of the bile ducts, which is typical of this disease (a so-called “rosary” image).

Unlike auto-immune hepatitis, sclerosing cholangitis does not respond to immunosuppressants (steroids, azathioprine).

So a wait-and-see attitude is adopted, during which it is important to avoid cholestasis complications: fat-soluble vitamin deficiency and bone fragility.

Due to an increased risk of cancer of the bile ducts, sclerosing cholangitis is often an indication for transplantation.

What are the treatments ?

Contenu

For auto-immune hepatitis, treatment consists of slowing down the patient's immune system in order to reduce inflammation of the liver, which will then minimize the risk of cirrhosis over the long term.

Usually, prednisone and azathioprine (Imurek®) are used as immunosuppressive drugs. Unlike sclerosing cholangitis, auto-immune hepatitis does not respond to immunosuppressants (steroids, azathioprine).

A strategy to monitor the complications from cholestasis is adopted: fat-soluble vitamin deficiency and bone fragility. Due to an increased risk of cancer of the bile ducts, sclerosing cholangitis is often an indication for liver transplantation.

In some cases, the child may have an overlap syndrome.

In the biopsy, one of two images are shown: the biopsy shows signs of AIH on the one hand and PSC on the other. It is important to monitor these children closely to limit the side effects of treatment if the medication does not work.

Metabolic diseases

What is a metabolic disease ?

Contenu

The liver manufactures enzymes and stores them. The food that we eat is “broken down” (degraded) by these enzymes into small molecules, which serve as fuel for the body.

A person with a metabolic disease does not produce an enzyme or produces an insufficient amount of an enzyme. Some “chunks” of nutrients (that were not degraded) then accumulate in the body and poison it.

There are several metabolic diseases and they can affect the metabolism of proteins (tyrosinemia, phenylketonuria, maple syrup disease), sugars (glycogenosis, congenital fructose intolerance, galactosemia) and lipids.

They can also involve processes that take place inside the cell, which is called mitochondrial diseases or lysosomal diseases.

Overall, metabolic diseases occur in 1 newborn out of 800 to 2500 births.

How are they transmitted ?

Contenu

Most are hereditary and are inherited in an autosomal recessive manner. In order for the disease to manifest itself, a child must have inherited two defective (recessive) genes, one from each parent. If the parents are not sick, they are considered to be “carriers” of this recessive gene.

What are the symptoms ?

Contenu

They appear in various ways, sometimes at birth or after a period ranging from a few months to a few years. They are manifest in different ways, for example through :

  • Yellowing of the skin (jaundice),
  • Abdominal distension,
  • Liver failure,
  • A delay in weight gain,
  • Vomiting,
  • Diarrhea,
  • Neurological symptoms: difficulties waking up, etc.
  • Kidney function disorders

In infants, the first symptoms appear suddenly and abruptly. These symptoms are often triggered by eating a new food or by stress as with a childhood disease.

What are the treatments ?

Contenu

Early diagnosis is essential and often determines the disease's progress. For some metabolic disorders, a very strict diet should be followed.

In this way, the disease symptoms can be lowered. This diet consists of eliminating molecules in the child's food that are not broken down.

For example, with tyrosinemia, tyrosine is not allowed. For other metabolic diseases, there are medicinal treatments.

But often, since only gene therapy would be effective, the treatments offered are limited to controlling complications. While waiting for gene therapy, liver transplantation is often the treatment of choice for metabolic diseases.

Transplantation is focused on giving the child the missing enzyme to ensure a future that is as normal as possible, on the one hand, and to spare them the dietary constraints on the other hand.

What is the prognosis ?

Contenu

The prognosis for a metabolic disease varies based on the individual and the type of enzyme deficiency. However, there are two general principles can be retained :

  • the more the attacks occur in young people, the more severe they are
  • the prognosis with or without a liver transplant depends on the number of organs affected by the deficit.
Mucoviscidosis

What is mucoviscidosis ?

Contenu

It is characterized by a mutation in a gene (CFTR) coding for a protein responsible for transporting chlorine through cell membranes throughout the body.

Chlorine cannot circulate normally and this results in increased viscosity of the mucous secretions of the pulmonary and digestive surfaces. The secretions accumulate and cause obstructions, which can become infected.

It affects one child out of 3,500 in European countries.

How is it transmitted ?

Contenu

It is an inherited autosomal recessive genetic disease. It is transmitted in an autosomal recessive manner, i.e. the gene responsible for the disease is recessive.

In order for the disease to manifest itself, a child must have inherited two defective (recessive) genes, one from each parent.

If the parents are not sick, they are considered to be “carriers” of this recessive gene.

What are the symptoms ?

Contenu

The disease affects the lungs, liver and other organs such as the pancreas (insulin-dependent diabetes), the genitals (fertility issues) and the upper respiratory tract (nasal polyposis).

The liver can also be affected through an increase in bile viscosity due to the CFTR protein abnormality in the bile ducts. The bile, which is too viscous, accumulates and leads to multiple obstructions in the bile ducts, which can lead to cirrhosis.

Cirrhosis makes it difficult for blood to pass through the liver, which leads to an accumulation of blood in intra-abdominal organs. This is called portal hypertension,with symptoms that include an increase in the size of the abdomen, a delay in weight gain, and in the most advanced cases, the risk of digestive bleeding. 

Liver damage is rarely associated with yellow skin discoloration (jaundice) or liver failure.

How is it diagnosed ?

Contenu

The diagnosis of cystic fibrosis is based on a so-called “perspiration” test to assess whether the secretion of chlorine is increased, and it can be confirmed by searching for the CFTR genetic mutation.

What are the treatments ?

Contenu

There is no cure. Treatments focus on symptom relief :

  • At the pulmonary level, daily physiotherapy is often indicated, as well as hospitalizations for antibiotic treatment due to superinfections by bacteria.
  • For liver damage, vitamins and ursodeoxycholic acid are prescribed
  • For pancreatic damage, pancreatic enzymes are administered.

Depending on the situation, a transplant may be proposed, either only pulmonary, or only of the liver, or transplantation of both organs.

A liver transplant can cure the genetic anomaly in the liver, so there is no recurrence of the liver disease.

On the other hand, pulmonary and endocrinological lesions persist after a liver transplant alone, and will require the same monitoring as before the transplant.

Congenital portosystemic shunts
Contenu

To date, the prevalence of congenital portosystemic shunts is not known, but the severity of its repercussions is recognized.

Complications of congenital portocaval shunts include benign and malignant hepatic tumors, impaired concentration and attention (encephalopathy), and severe cardiopulmonary complications, all of which have already been remported in infancy. It is therefore a true systemic disease with paediatric presentation and severe repercussions since these can lead to cancer, a liver transplant.

Complications can be diagnosed at any age. To this end we have created an international registry aimed to include all patients from childhood to adulthood.

Our goal is to better characterize malformations and their complications. Above all, our goal is to provide patients with the best care as soon as the diagnosis is made.

We offer multidisciplinary management involving interventional radiology, cardiology if necessary, neurology, and other specialties according to the needs of the child.

Links :

Alagille syndrome

What is Alagille syndrome ?

Contenu

Alagille syndrome is a genetic disorder that includes a certain set of symptoms. It is caused by a chromosomal modification of the JAG1 gene on chromosome 20 or the NOTCH2 gene on chromosome 1.

This rare disease affects 1 child in 100,000 births.

How is it transmitted ?

Contenu

The mutation can either occur during the embryonic period and in this case, it is considered to be acquired, or it is transmitted by one of the parents.

Genetic analysis can confirm the diagnosis.

What are the symptoms ?

Contenu

Prolonged yellow coloring of the skin (jaundice) in the newborn is often the first form of presentation of the disease. This jaundice is associated with neonatal cholestasis (biliary retention) due to a weak biliary network.

A reduction in the number of bile ducts in the liver also leads to an accumulation of “conjugated” bilirubin in the blood.

In addition to jaundice, the child may also have itching (pruritus), which is caused by this high level of conjugated bilirubin.

Other symptoms or signs are found to varying degrees in Alagille syndrome, such as :

  • Cardiac malformations (the most common being stenosis of the pulmonary artery)
  • Vertebral anomalies with the appearance of "butterfly wings" in X-rays
  • A characteristic face shape
  • An iris anomaly called embryotoxon (fatty deposit around the iris)
  • Kidney problems
  • Small body size.

How is it diagnosed ?

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When signs suggestive of this syndrome are shown, genetic analysis can confirm the diagnosis, since mutations of the gene have been identified.

What are the treatments ?

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Treatment depends on the symptoms, which can vary. Some patients essentially only have heart problems.

In the case of persistent jaundice, dietary measures should be taken to avoid vitamin deficiency and to ensure proper growth. Pruritus can be reduced by a medication called rifampicin.

Liver transplantation is indicated if the pruritis is not relieved by drug therapy or if the disease progresses to severe liver complications.

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Last update : 29/06/2023

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