What is Gaucher’s disease?

 Gaucher's disease is the most common of the lysosomal storage diseases. It is pronounced as GO-SHEY.  It results from deficiency of a specific enzyme in the body caused by genetic mutation present in both parents. This deficiency leads to accumulation of an abnormal fatty substance in different organs of the body such as liver, spleen, brain, bone marrow and lungs.

 How is Gaucher's disease transmitted?

What is Glycogen? What is its role in our body?

Glycogen is the storage form of glucose (sugar) in the body. It is a complex material made of individual glucose molecules linked together in long chains with many branches off the chains (just like a tree). Glycogen is mainly stored in the liver and muscle cells, but the kidneys and intestines also store some limited amounts of glycogen.


Metabolism is the process by which our body breaks down the food we eat and converts it to energy. 

  1. What is Haemophagocytic lymphohistiocytosis?

Hemophagocyticlymphohistiocytosis (HLH) is a rare but potentially fatal disease of normal but overactive cells calledhistiocytes and lymphocytes that commonly appears in the first year of life, although it has been seen in all age groups.

  1. What are the types of HLH?

What is Hepatitis A?

Hepatitis A is an infection of the liver caused by a virus called Hepatitis A virus.

How does this disease spread?

Hepatitis A is an enterally transmitted disease that is it is food borne. It spreads from one to another through contaminated food or water.

Hepatitis B in Children


What is Hepatitis B?

Hepatitis B is a disease caused specifically by hepatitis B virus. The virus infects the liver and may result in inflammation (swelling) of the liver cells (hepatitis). This results in liver dysfunction. The spectrum of the disease ranges widely from asymptomatic disease or mild jaundice (which subside spontaneously) to chronic infection causing liver failure, permanent liver damage (Cirrhosis) or liver cancer (hepatocellular carcinoma).


How common is Hepatitis B?


What is Hepatoblastoma?

Hepatoblastoma is a rare tumor of liver. It is however the most common cancerous liver tumor in early childhood. Usually affects children younger than 3 years more so younger than 18 months. The frequency is more in low birth weight babies.

What is liver?

Liver is one of the vital organs of our body with wide range of functions. The liver consists of highly specialized tissues that regulate a wide variety of biochemical reactions necessary for vital functions of our body.


Where is the liver located in our body?

The liver is located just beneath the right rib cage below the right diaphragm and the right lung. The lower border can be felt 2 cm below the right rib cage in infants and younger children. The liver is surrounded by right diaphragm, stomach, intestine (duodenum) and gall bladder.


What is an 'Liver Function Test?

These are a group of blood tests which reflect the function of the liver. Abnormalities in these tests are helpful in determining the type and extent of damage to the liver if any.


What constitutes an LFT?

The following tests constitute an LFT:

  • serum bilirubin-total, direct, indirect

  • serum enzymes- ALT(earlier called as- SGPT), AST (earlier called as- SGOT)

  • serum GGT

  • serum Alkaline phosphatase

  • serum albumin

  • Prothrombin time / international normalization ratio (PT/INR)



Which child with liver disease needs liver transplantation?

Liver transplantation is sometimes the only treatment for children  with acute or chronic liver disease that is progressive, life-threatening and unable to be successfully treated with other therapies such as medications and surgery. In children the most common indication is failed surgery for biliary atresia, a congenital condition. Liver transplantation has about a 90% one-year survival rate and thousands of people have benefited from this remarkable surgery all over the world and now in India.

When should you seek an opinion on liver transplantation?

What is NAFLD?

NAFLD i.e. non alcoholic fatty liver disease is a medical condition, in which the fat content of the liver is increased. This causes damage to liver cells and their death. Further, the function of liver is disturbed, and it becomes increasingly stiff or fibrosed (cirrhosis)

Usually, such a degeneration of liver is seen in chronic alcoholics. However, NAFLD constitutes a group of patients who do not consume a significant amount of alcohol, and still exhibit similar changes in liver. Hence the name, non alcoholic fatty liver disease.

CLF Intro movie

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