Download What are the symptoms of Gaucher disease?

IS-2
Assignment # ___
Tamalpais High School
Diseases: Genetics versus Pathogen
Name __________________
Period _____
Introduction
In this assignment you will be asked to serve as the infectious disease experts on a disease that you are
assigned to investigate as a group. Find your disease below and answer the questions about your disease
after reading your disease literature. Prepare a whiteboard with summarized information, so you can share
the information about your specific disease. Your information should be in the form of a patient
presentation and should cover all of the information that your handout asks for below.
1. Cri Du Chat syndrome
a. Symptoms (name at least 3)
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b. Diagnosis
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c. Treatment
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d. Etiology
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2. Amebiasis
a. Symptoms (name at least 3)
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b. Diagnosis
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c. Treatment
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d. Etiology
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3. Gaucher Disease
a. Symptoms (name at least 3)
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b. Diagnosis
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c. Treatment
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d. Etiology
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4. Ebola Hemorrhagic Fever
a. Symptoms (name at least 3)
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_____________________________________________________________________________________________
b. Diagnosis
___________________________________________________________________________________________
___________________________________________________________________________________________
c. Treatment
___________________________________________________________________________________________
___________________________________________________________________________________________
d. Etiology
___________________________________________________________________________________________
___________________________________________________________________________________________
5. Noonan Syndrome
a. Symptoms (name at least 3)
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b. Diagnosis
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c. Treatment
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d. Etiology
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6. Factor V Leiden thrombophilia
a. Symptoms (name at least 3)
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b. Diagnosis
___________________________________________________________________________________________
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c. Treatment
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___________________________________________________________________________________________
d. Etiology
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7. Taeniasis
a. Symptoms (name at least 3)
_____________________________________________________________________________________________
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b. Diagnosis
___________________________________________________________________________________________
___________________________________________________________________________________________
c. Treatment
___________________________________________________________________________________________
___________________________________________________________________________________________
d. Etiology
___________________________________________________________________________________________
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8. Cryptosporidiosis
a. Symptoms (name at least 3)
_____________________________________________________________________________________________
_____________________________________________________________________________________________
b. Diagnosis
___________________________________________________________________________________________
___________________________________________________________________________________________
c. Treatment
___________________________________________________________________________________________
___________________________________________________________________________________________
d. Etiology
___________________________________________________________________________________________
___________________________________________________________________________________________
What is cri du chat syndrome?
Cri du chat syndrome - also known as 5p- syndrome and cat cry syndrome - is a rare genetic condition that
is caused by the deletion (a missing piece) of genetic material on the small arm (the p arm) of
chromosome 5. The cause of this rare chromosomal deletion is unknown.
What are the symptoms of cri du chat syndrome?
The symptoms of cri du chat syndrome vary among individuals. The variability of the clinical symptoms
and developmental delays may be related to the size of the deletion of the 5p arm.
The clinical symptoms of cri du chat syndrome usually include a high-pitched cat-like cry, mental
retardation, delayed development, distinctive facial features, small head size (microcephaly), widelyspaced eyes (hypertelorism), low birth weight and weak muscle tone (hypotonia) in infancy. The cat-like
cry typically becomes less apparent with time.
Most individuals who have cri du chat syndrome have difficulty with language. Half of children learn
sufficient verbal skills to communicate. Some individuals learn to use short sentences, while others
express themselves with a few basic words, gestures, or sign language.
Other characteristics may include feeding difficulties, delays in walking, hyperactivity, scoliosis, and
significant retardation. A small number of children are born with serious organ defects and other lifethreatening medical conditions, although most individuals with cri du chat syndrome have a normal life
expectancy.
Both children and adults with this syndrome are usually friendly and happy, and enjoy social interaction.
How is cri du chat syndrome diagnosed?
The diagnosis of cri du chat syndrome is generally made in the hospital at birth. A health care provider
may note the clinical symptoms associated with the condition. The cat-like cry is the most prominent
clinical feature in newborn children and is usually diagnostic for the cri du chat syndrome.
Additionally, analysis of the individual's chromosomes may be performed. The missing portion (deletion)
of the short arm of chromosome 5 may be seen on a chromosome analysis. If not, a more detailed type of
genetic test called FISH analysis may be needed to reveal the deletion.
What is the treatment for cri du chat syndrome?
No specific treatment is available for this syndrome. Children born with this genetic condition will most
likely require ongoing support from a team made up of the parents, therapists, and medical and
educational professionals to help the child achieve his or her maximum potential. With early and
consistent educational intervention, as well as physical and language therapy, children with cri du chat
syndrome are capable of reaching their fullest potential and can lead full and meaningful lives.
Is cri du chat syndrome inherited?
Most cases of cri du chat syndrome are not inherited. The chromosomal deletion usually occurs as a
random event during the formation of reproductive cells (eggs or sperm) or in early fetal development.
People with cri du chat typically have no history of the condition in their family.
About 10 percent of people with cri du chat syndrome inherit the chromosome with a deleted segment
from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a
balanced translocation, in which no genetic material is gained or lost. Balanced translocations usually do
not cause any medical problems; however, they can become unbalanced as they are passed to the next
generation. A deletion in the short arm of chromosome 5 is an example of an unbalanced translocation,
which is a chromosomal rearrangement with extra or missing genetic material. Unbalanced translocations
can cause birth defects and other health problems such as those seen in cri-du-chat syndrome.
Learning About Gaucher Disease
What is Gaucher disease?
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid)
called glucocerebroside cannot be adequately degraded. Normally, the body makes an enzyme called
glucocerebrosidase that breaks down and recycles glucocerebroside - a normal part of the cell membrane.
People who have Gaucher disease do not make enough glucocerbrosidase. This causes the specific lipid to
build up in the liver, spleen, bone marrow and nervous system interfering with normal functioning.
There are three recognized Types of Gaucher disease and each has a wide range of symptoms. Type 1 is
the most common, does not affect the nervous system and may appear early in life or adulthood. Many
people with Type 1 Gaucher disease have findings that are so mild that they never have any problems
from the disorder. Type 2 and 3 do affect the nervous system. Type 2 causes serious medical problems
beginning in infancy, while Type 3 progresses more slowly than Type 2.There are also other more unusual
forms that are hard to categorize within the three Types.
Gaucher disease is caused by changes (mutations) in a single gene called GBA. Mutations in the GBA gene
cause very low levels of glucocerebrosidase. A person who has Gaucher disease inherits a mutated copy
of the GBA gene from each of his/her parents.
Gaucher disease occurs in about 1 in 50,000 to 1 in 100,000 individuals in the general population. Type 1
is found more frequently among individuals who are of Ashkenazi Jewish ancestry. Type 1 Gaucher
disease is present 1 in 500 to 1 in 1000 people of Ashkenazi Jewish ancestry, and approximately 1 in 14
Ashkenazi Jews is a carrier. Type 2 and Type 3 Gaucher disease are not as common.
What are the symptoms of Gaucher disease?
Symptoms of Gaucher disease vary greatly among those who have the disorder. The major clinical
symptoms include:
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Enlargement of the liver and spleen (hepatosplenomegaly).
A low number of red blood cells (anemia).
Easy bruising caused, in part, by a low level of platelets (thrombocytopenia).
Bone disease (bone pain and fractures).
Other symptoms depending on the type of Gaucher disease include heart, lung and nervous system
problems.
The symptoms of Type 1 Gaucher disease include bone disease, hepatosplenomegaly, anemia and
thrombocytopenia, and lung disease.
The symptoms in Type 2 and Type 3 Gaucher disease include those of Type 1 and other problems
involving the nervous system such as eye problems, seizures and brain damage. In Type 2 Gaucher
disease, severe medical problems begin in infancy. These individuals usually do not live beyond age two.
There are also some patients with Type 2 Gaucher disease that die in the newborn period, often with
severe skin problems or excessive fluid accumulation (hydrops). Individuals with Type 3 Gaucher disease
may have symptoms before they are two years old, but often have a more slowly progressive disease
process and the extent of brain involvement is quite variable. They usually have slowing of their
horizontal eye movements.
Recently it has been observed that both patients with Gaucher disease and Gaucher carriers have an
increased risk of developing Parkinson disease and related disorders.
How is Gaucher disease diagnosed?
The diagnosis of Gaucher disease is based on clinical symptoms and laboratory testing. A diagnosis of
Gaucher disease is suspected in individuals who have bone problems, enlarged liver and spleen
(hepatosplenomegaly), changes in red blood cell levels, easy bleeding and bruising from low platlets or
signs of nervous system problems.
Laboratory testing involves a blood test to measure the activity level of the enzyme glucocerebrosidase.
Individuals who have Gaucher disease have very low levels of this enzyme activity. A second type of
laboratory test involves DNA analysis of the GBA gene for the four most common GBA mutations. Both
enzyme and DNA testing can be done prenatally. A bone marrow or liver biopsy is not necessary to
establish the diagnosis.
When the specific gene mutation causing Gaucher disease is known in a family, DNA testing can be used
to accurately identify carriers. However it is often not possible to predict the patient's clinical course based
upon DNA testing.
What is the treatment for Gaucher disease?
Enzyme replacement therapy is now available as an effective treatment for individuals who have
symptoms from Gaucher disease. The treatment involves giving a modified form of the enzyme,
glucocerbrosidase, by intravenous infusion every two weeks. Enzyme replacement therapy helps to stop
progression and often reverse many of the symptoms of Gaucher disease, but does not affect the nervous
system involvement.
Several other therapies including oral treatments are in various stages of development.
Other treatments that have been required include: removal of the spleen (splenectomy); blood
transfusions; pain medications; and joint replacement surgery.
Is Gaucher disease inherited?
Gaucher disease is inherited in families in an autosomal recessive manner. Normally, a person has two
copies of the genes that provide instructions for making the enzyme, glucocerbrosidase. For most
individuals, both genes work properly. When one of the two genes is not functioning properly, the person
is a carrier. Carriers do not have Gaucher disease because they have one normally functioning gene that
makes enough of the enzyme to carry out normal body functions. When an individual inherits an altered
gene from each carrier parent, he or she has Gaucher disease.
Carrier parents have, with each pregnancy, a 1 in 4 (25 percent) chance to have a baby born with Gaucher
disease; a 1 in 2 (50 percent) chance to have a child who is a carrier like themselves; and a 1 in 4 (25
percent) chance to have a child who is neither affected nor a carrier.
What is Noonan Syndrome?
Noonan syndrome is a disorder that involves unusual facial characteristics, short stature, heart defects
present at birth, bleeding problems, developmental delays, and malformations of the bones of the rib cage.
Noonan syndrome is caused by changes in one of several autosomal dominant genes. A person who has
Noonan syndrome may have inherited an altered (mutated) gene from one of his or her parents, or the
gene change may be a new change due to an error carried by the egg or sperm or occurring at conception.
Alterations in four genes - PTPN11, SOS1, RAF1 and KRAS - have been identified to date.
Noonan syndrome is present in about 1 in 1,000 to 1 in 2,500 people.
What are the symptoms of Noonan Syndrome?
Symptoms of Noonan syndrome may include the following:
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A characteristic facial appearance.
Short stature.
Heart defect present at birth (congenital heart defect).
A broad or webbed neck.
Minor eye problems such as strabismus in up to 95 percent of individuals.
Bleeding problems such as a history of abnormal bleeding or bruising.
An unusual chest shape with widely-spaced and low set nipples.
Developmental delay of varying degrees, but usually mild.
In males, undescended testes (cryptorchidism).
How is Noonan syndrome diagnosed?
The diagnosis of Noonan syndrome is based on the person's clinical symptoms and signs. The specialist
examines the person looking for the specific features of Noonan syndrome.
Individuals who have Noonan syndrome have normal chromosome studies. Four genes - PTPN11, SOS1,
RADF1 and KRAS - are the only genes that are known to be associated with Noonan syndrome.
Approximately 50 percent of individuals with Noonan syndrome have mutations in the PTPN11 gene.
Twenty percent of those with Noonan Syndrome have mutations in the SOS1. Mutations in the RAF1 gene
account for between 10 and 15 percent of Noonan syndrome cases. About 5 percent of people with
Noonan syndrome have mutations in the KRAS gene and usually have a more severe or atypical form of
the disorder. The cause of Noonan syndrome in the remaining 10 to 15 percent of people with this
disorder is not yet known. .
What is the treatment for Noonan syndrome?
Treatment for individuals who have Noonan syndrome is based on their particular symptoms. Heart
problems are treated in the same way as they are for individuals in the general population. Early
intervention programs are used to help with developmental disabilities, when present. Bleeding problems
that can be present in Noonan syndrome may have a variety of causes and are treated according to their
cause. Growth problems may be caused by lack of growth hormone and may be treated with growth
hormone treatment. Symptoms such as heart problems are followed on a regular basis.
Is Noonan syndrome inherited?
Noonan syndrome is inherited in families in an autosomal dominant pattern. This means that a person who
has Noonan syndrome has one copy of an altered gene that causes the disorder. In about one-third to twothirds of families one of the parents also has Noonan syndrome. The parent who has Noonan syndrome
has a 1 in 2 (50 percent) chance to pass on the altered gene to a child who will be affected; and a 1 in 2 (50
percent) chance to pass on the normal version of the gene to a child who will not have Noonan syndrome.
In many individuals who have Noonan syndrome, the altered gene happens for the first time in them, and
neither of the parents has Noonan syndrome. This is called a de novo mutation. The chance for these
parents to have another child with Noonan syndrome is very small (less than 1 percent).
What is factor V Leiden thrombophilia?
Factor V Leiden thrombophilia is an inherited disorder of blood clotting. Factor V Leiden is the name of a
specific mutation (genetic alteration) that results in thrombophilia, or an increased tendency to form
abnormal blood clots in blood vessels. People who have the factor V Leiden mutation are at somewhat
higher than average risk for a type of clot that forms in large veins in the legs (deep venous thrombosis, or
DVT) or a clot that travels through the bloodstream and lodges in the lungs (pulmonary embolism, or PE).
Factor V Leiden is the most common inherited form of thrombophilia. Between 3 and 8 percent of the
Caucasian (white) U.S. and European populations carry one copy of the factor V Leiden mutation, and
about 1 in 5,000 people have two copies of the mutation. The mutation is less common in other
populations.
A mutation in the factor V gene (F5) increases the risk of developing factor V Leiden thrombophilia. The
protein made by F5 called factor V plays a critical role in the formation of blood clots in response to
injury. The Factor V protein is involved in a series of chemical reactions that hold blood clots together. A
molecule called activated protein C (APC) prevents blood clots from growing too large by inactivating
factor V. In people with the factor V Leiden mutation, APC is unable to inactivate factor V normally. As a
result, the clotting process continues longer than usual, increasing the chance of developing abnormal
blood clots.
Information courtesy of: Genetics Home Reference
What are the symptoms of factor V Leiden thrombophilia?
The symptoms of factor V Leiden vary among individuals. There are some individuals who have the F5
gene and who never develop thrombosis, while others have recurring thrombosis before the age of 30
years. This variability is influenced by the number of F5 gene mutations a person has, the presence of
other gene alterations related to blood clotting, and circumstantial risk factors, such as surgery, use of oral
contraceptives and pregnancy.
Symptoms of Factor V Leiden include:
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Having a first DVT or PE before 50 years of age.
Having recurring DVT or PE.
Having venous thrombosis in unusual sites in the body such as the brain or the liver.
Having a DVT or PE during or right after pregnancy.
Having a history of unexplained pregnancy loss in the second or third trimester.
Having a DVT or PE and a strong family history of venous thromboembolism.
The use of hormones, such as oral contraceptive pills (OCPs) and hormone replacement therapy (HRT),
including estrogen and estrogen-like drugs) taken after menopause, increases the risk of developing DVT
and PE. Healthy women taking OCPs have a three- to four-fold increased risk of developing a DVT or PE
compared with women who do not take OCP. Women with factor V Leiden who take OCPs have about a
35-fold increased risk of developing a DVT or PE compared with women without factor V Leiden and
those who do not take OCPs. Likewise, postmenopausal women taking HRT have a two- to three-fold
higher risk of developing a DVT or PE than women who do not take HRT, and women with factor V
Leiden who take HRT have a 15-fold higher risk. Women with heterozygous factor V Leiden who are
making decisions about OCP or HRT use should take these statistics into consideration when weighing the
risks and benefits of treatment.
Information courtesy of: The American Heart Association
How is factor V Leiden thrombophilia diagnosed?
Your doctor would suspect a diagnosis of thrombophilia if you have a history of venous thrombosis and/or
a family history of venous thrombosis. The diagnosis is made using a screening test called a coagulation
screening test or by genetic testing (DNA analysis) of the F5 gene.
How is factor V Leiden thrombophilia treated?
The management of individuals with factor V Leiden depends on the clinical circumstances. People with
factor V Leiden who have had a DVT or PE are usually treated with blood thinners, or anticoagulants.
Anticoagulants such as heparin are given for varying amounts of time depending on the person's situation.
It is not usually recommended that people with factor V Leiden be treated lifelong with anticoagulants if
they have had only one DVT or PE, unless there are additional risk factors present. Having had a DVT or
PE in the past increases a person’s risk for developing another one in the future, but having factor V
Leiden does not seem to add to the risk of having a second clot. In general, individuals who have factor V
Leiden but have never had a blood clot are not routinely treated with an anticoagulant. Rather, these
individuals are counseled about reducing or eliminating other factors that may add to one's risk of
developing a clot in the future. In addition, these individuals may require temporary treatment with an
anticoagulant during periods of particularly high risk, such as major surgery.
Factor V Leiden increases the risk of developing a DVT during pregnancy by about seven-fold. Women
with factor V Leiden who are planning pregnancy should discuss this with their obstetrician and/or
hematologist. Most women with factor V Leiden have normal pregnancies and only require close followup during pregnancy. For those with a history of DVT or PE, treatment with an anticoagulant during a
subsequent pregnancy can prevent recurrent problems.
Information courtesy of: The American Heart Association
What do we know about heredity and factor V Leiden thrombophilia?
Factor V Leiden is the most common inherited form of thrombophilia. The risk of developing a clot in a
blood vessel depends on whether a person inherits one or two copies of the factor V Leiden mutation.
Inheriting one copy of the mutation from a parent increases by fourfold to eightfold the chance of
developing a clot. People who inherit two copies of the mutation, one from each parent, may have up to 80
times the usual risk of developing this type of blood clot. Considering that the risk of developing an
abnormal blood clot averages about 1 in 1,000 per year in the general population, the presence of one copy
of the factor V Leiden mutation increases that risk to 1 in 125 to 1 in 250. Having two copies of the
mutation may raise the risk as high as 1 in 12.