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Research Paper Gaucher Disease by Xheni Kuqo
Research Paper Gaucher Disease by Xheni Kuqo
Gaucher Disease
fatigue and pain, especially in the bones and belly. Symptoms can
appear at any age, from childhood to adulthood.
Type 2 (acute neuronopathic): A rare form of the disorder,
type 2 appears in babies under six months old. It causes an
enlarged spleen, movement problems and severe brain
damage. There is no treatment for Gaucher disease type 2. Babies
with this condition pass away within two to three years.
Type 3 (chronic neuronopathic): Worldwide, Gaucher
disease type 3 is the most common form. It appears before age 10
and causes bone and organ abnormalities and neurological
(brain) problems. Treatments can help many people with Gaucher
disease type 3 live into their 20s or 30s.
type 1. Of all people of Ashkenazi (or Ashkenazic) Jewish descent, nearly 1 in 450
has the disorder, and 1 in 10 carries the gene change that causes Gaucher disease.
Ancestry does not play a role in who gets Gaucher disease types 2 and 3. The
disorder affects people of all ethnicities.
2
Research paper
Worked by: Xheni Kuqo
Advisor: Prof.Dr. Ermira Hodo
It is caused by a problem
with the GBA gene. It is an
autosomal recessive disorder.
This means that each parent
must pass along an abnormal
GBA gene for their child to get
Gaucher. Parents may have
only 1 GBA gene and, therefore, not show any signs of the disease, but
be carriers of the disease.
3
Research paper
Worked by: Xheni Kuqo
Advisor: Prof.Dr. Ermira Hodo
Symptoms of
Gaucher disease vary
from person to person.
Some people with
Gaucher disease have
mild symptoms or none
at all. In other people, symptoms can lead to serious health problems and death.
Signs of all three forms of Gaucher disease include:
Problems affecting the organs and blood: As fatty chemicals build up in the
body, people with Gaucher disease may experience a range of symptoms in the
blood and organs. Sometimes the skin develops brown pigmented spots. Symptoms
range from mild to severe and include:
Anemia: As lipids build up in bone marrow, they destroy red blood cells.
Red blood cells carry oxygen throughout the body. Having too few red blood
cells is called anemia.
Enlarged organs: The spleen and liver get bigger as fatty chemicals build
up, which causes the belly to become enlarged and tender. The enlarged
spleen destroys platelets (blood cells that help blood clot), leading to a low
platelet count and bleeding problems.
Bruising, bleeding and clotting issues: A low platelet count causes
people with Gaucher disease to bruise easily. Their blood doesn’t clot like it
should. They are at risk of heavy or prolonged bleeding, even after minor
injuries, surgery or nosebleeds.
Fatigue: As a result of anemia, people with Gaucher disease often
experience fatigue (feeling tired all the time).
Lung problems: Fatty chemicals
accumulate in the lungs and make it
difficult to breathe.
Problems affecting the bones: When
bones don’t get the blood, oxygen and
nutrients they need, they weaken and
break down. People with Gaucher
disease may have symptoms in the bones
and joints, including:
4
Research paper
Worked by: Xheni Kuqo
Advisor: Prof.Dr. Ermira Hodo
Pain: Decreased blood flow causes pain in the bones. Arthritis, joint pain
and joint damage are common signs of Gaucher disease.
Osteonecrosis: This condition, also known as avascular necrosis, results
from a lack of oxygen reaching the bones. Without enough oxygen, bone
tissue fractures into tiny pieces and dies.
Bones that fracture easily: Gaucher disease causes osteoporosis, a
condition that occurs when the bones don’t get enough calcium. With
osteoporosis (and osteopenia, a mild form of osteoporosis), bones can
break easily. Weakened bones can lead to skeletal abnormalities.
Problems affecting the brain and brain stem: Infants with Gaucher disease
type 2 develop these symptoms within the first six months of life. They may have
skin abnormalities at birth. Symptoms of Gaucher disease type 3 appear by age 10
and become more severe over time.
References:
1. Stirnemann J, Vigan M, Hamroun D, Heraoui D, Rossi-Semeraro L,
Berger MG, et al. The French Gaucher’s disease registry: clinical
characteristics, complications and treatment of 562 patients. Orphanet J
Rare Dis. 2012;9(7):77.
2. Ron I, Horowitz M. ER retention and degradation as the molecular basis
underlying Gaucher disease heterogeneity. Hum Mol Genet.
2005;14(16):2387–98.
3. AE. La maladie de Gaucher dans l’enfance. Faculté de Médicine. 1934.
4. Brady RO, Kanfer JN, Shapiro D. Metabolism of glucocerebrosides. II.
Evidence of an enzymatic deficiency in Gaucher’s disease. Biochem
Biophys Res Commun. 1965;18(18):221–5.
5. Https://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-019-
0759-1
6. Https://www.ninds.nih.gov/health-information/disorders/gaucher-disease
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Research paper
Worked by: Xheni Kuqo
Advisor: Prof.Dr. Ermira Hodo
7. Https://medlineplus.gov/genetics/gene/gba/#resources
8. Https://my.clevelandclinic.org/health/diseases/16234-gaucher-
disease#:~:text=Gaucher%20disease%20type%202%3A%20A,within
%20two%20to%20three%20years.
9. Https://rarediseases.org/rare-diseases/gaucher-disease
10. Https://www.genome.gov/staff/Ellen-Sidransky-MD
11. Https://www.ncbi.nlm.nih.gov/books/NBK1269/
12. Https://europepmc.org/article/MED/20301446/NBK1269#free-full-text
13. Https://www.cerdelga.com/about-gaucher/genetics