Gauchers Disease

TITLE: Gauchers Disease]

OBJECTIVES:

1. To be able to understand Gauchers Disease.

2. To be able to know the cause of Gaucher’s Disease.

3. To able to know the different sign and symptoms of Gaucher’s Disease.

INTRODUCTION:

Gauchers Disease - is inherited metabolic disorders in with harmful quantities of a fatty substance culled glucocerebroside accumulate in the spleen, liver, lungs bone marrow and sometimes in the brain.

Gauehers Disease was an inherited disease and that both parents must pass on the gene for the disease. It involves also the Sphingolipidoses a lysosomal hydrolytic enzyme is difficult in each disorder. The enzyme is difficult in each disorder. The enzyme deficiencies cause death usually soon after the first month of life with the exception of the adult form of Gauehers disease and of Fabrys disease. The sphinyotipidoses are autosomal recessive disease.

ETIOLOGY

What is Gauchers Disease?

Gauchers disease is an inherited metabolic disorder in which harmful quantities of a fatly substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and sometimes in the brain. There are three types of Gaudier disease. The first category, called type 1, is far by the most common patient in this group usually bruise easily and experience fatigue due to anemia and low blood platelets. They also have an enlarged liver and spleen, .skeletal disorders, and, in some instance, lung and kidney impairment. There are no signs of brain involvement. Symptoms can appear at any age. Type 2 Gaucher disease, liver and spleen enlargement ;ire apparent by 3 months of age. Patient have extensive and progressive brain damage and usually die by 2 years or age. In the third category, called type 3, liver and spleen enlargement is variable, and signs of brain involvement such as seizures gradually become apparent. All Gauchcr patients exhibit a deficiency of an enzyme called glococerebrosidase that is involved in the breakdown and recycling of glucocerebroside. The buildup of his fatty material within cells prevents the cells and organs from functioning properly. Gaucher disease is one several lipid storage disease.

There are three major types of Gaucher's disease. Classification depends on age at the time of diagnosis, and whether the brain and central nervous system are involved:

• Type I. In this form of the disease, there's no brain involvement. It can occur in any age, although it's most prevalent in adults, with an average of 20 years old at the time of diagnosis. It's by tar the most common type of Gaucher’s disease.

• Type 2. This form of Gaucher's disease is rare and occurs in infants with severe signs and symptoms such as liver and spleen enlargement, developing by 3 months of age. These babies have brain damage that is extensive and progresses rapidly.

• Type 3. This form of Gaucher's disease, also rare, occurs in children and adolescents. It tends to be chronic and progresses more slowly than does type 2. Although the brain is affected, brain involvement tends to lie relatively mild. Signs and symptoms, such as enlargement of the liver and spleen, vary in intensity.

HISTORY OF PATIENT

A patient from UK Vladimir Tomov is chairman of the national gaucher association of

Bulgaria. Her 14 years old daughter Radoslava has gaucher disease. Radoslava is very retty but her pale complexion and enlarged stomach, which she carefully hides behind oose clothing, gives testimony to her need for enzyme replacement therapy.

Radoslava was diagnose when She was 5 years old, she bled easily and we took her to octor for the test. First we were told it might be cancer but when we were transferred to ncologist (cancer expert), the discovered she has gaucher disease.

Two years later Radoslava began infusion of Ceredase but this was stop after 12 months

because there was no money to pay for the treatment. She started to deteriorate.

Radoslava began infusions again for 6 months but this was stop due of funds. Although

she improve during this period, she soon began to get worse after a treatment stopped.

PATHOPHYSIOLOGY

Gaucher disease is named after the French physician Philippe Charles Ernest Gaucher, who first described this disease in 1882 in a 32-year-old person whose liver and spleen were enlarged. In 1924, the German physician H. Lieb isolated a particular fatty compound from the spleens of people with Gaucher disease. Ten years later, the French physician A. Aghion identified this compound as glucocerebroside. Glucocerebroside is a component of the cell membranes of red and white blood cells. In 1965, the American physician Roscoe O. Brady and coworkers demonstrated that the accumulation of glucocerebroside results from a deficiency of the enzyme glucocerebrosidase. Dr. Brady's research provided the basis for developing enzyme replacement therapy, using glucocerebrosidase to replace the missing enzyme in Gaucher patients.

The human body contains specialized cells called macrophages that remove worn-out cells by degrading them to simple molecules for recycling. This process is analogous to eating and digesting food. The macrophages "eat" worn-out cells and degrade them inside cell compartments called lysosomes that serve as the "digestive tracts" of cells. The enzyme glucocerebrosidase is located within the lysosomes and is responsible for breaking down glucocerebroside into glucose and a fat called ceramide.

People with Gaucher disease lack the normal form of the glucocerebrosidase enzyme and are unable to break down glucocerebroside. Instead, the glucocerebroside remains stored within the lysosomes, preventing the macrophages from functioning normally. Enlarged macrophages containing undigested glucocerebroside are called Gaucher cells. These cells are the hallmark of this disease. Gaucher disease is the most common of 10 so-called "storage" disorders. The most widely known