PROGERIA

Untuk memenuhi tugas matakuliah Bahasa Inggris

yang dibina oleh Bapak Yulius Irham, S.Pd., MM

Oleh Kelompok 9 :
1. Dwi Ajeng Setyoningrum (P17220181009)
2. Aprilia Dwi Nisa Anjani (P17220181019)
3. Veren Aurelli Nasywa (P17220183034)
4. Faulya Isro’atul Chandya (P17220183037)

POLITEKNIK KESEHATAN MALANG

JURUSAN KEPERAWATAN
D3 KEPERAWATAN LAWANG
Januari 2020
 Causes, Symptoms, and Treatment of Progeria

Progeria is a rare genetic condition that causes a person to age prematurely.

Children with progeria appear healthy, but by the age of 2 years, they look as if they
have become old too fast. There are different types of progeria, but the classic type
is known as Hutchinson-Gilford progeria syndrome (HGPS).

It is caused by a mutation in the lamin A (LMNA) gene, and it involves severe

hardening of the arteries from a young age.

Children with this condition live on average for 14 years, because of the likelihood
of developing atherosclerosis.

Around the world, 134 children are thought to have progeria across 46 countries.
It is believed to affect 1 in every 4 million newborns of both sexes and all
ethnicities.

Thirty years ago, little was known about the cause of progeria. In 2003, a progeria
gene was discovered. This has given hope that a cure might one day be found.

It is sometimes called "Benjamin Button disease," after Scott Fitzgerald's fictional

character. However, in the story, "The Curious Case of Benjamin Button,"
Fitzgerald's character ages backward. People with progeria age forward but
quickly.

FAST, FACT ABOUT PROGERIA

Here are some facts about progeria. More information is available in the main
article.
 Progeria refers to a genetic condition in which a child ages rapidly.
 The condition is extremely rare, affecting around 1 in every 4 million
children.
  The disease can lead to fatal heart complications and a heightened risk
of stroke.
 Progeria is incurable, but symptoms can be managed.
 A drug called Ionafarnib can extend the average 14 year life expectancy by
1.6 years.

CAUSES
Progeria is a genetic condition.
Most children with progeria have a mutation on the gene that encodes for lamin
A, a protein that holds the nucleus of the cell together. This protein is also known
as progerin.
The defective protein is thought to make the nucleus unstable. This instability
makes cells more likely to die younger, leading to the symptoms of progeria.
It seems to happen because of a rare genetic change. One parent may have the
mutation, even though they do not have progeria.
There is not usually any family history, but if there is already one child in the
family with progeria, there is a 2 to 3 percent chance that another sibling will have
it.
Genetic testing can show whether a parent has the mutation or not.

SYMPTOMS
A newborn with progeria looks healthy, but by the age of between 10 months and
24 months, features of accelerated aging start to appear.
Signs of progeria include:
 limited growth and short stature
 lack of body fat and muscle
 loss of hair, including eyelashes and eyebrows
 early signs of skin aging, including thin skin
 stiffness in the joints
 visible veins
 stroke
  narrow, wrinkled, or shrunken face
 a head that is large compared with the body
 a small jaw bone
 slow and abnormal tooth development
 a high-pitched voice
 limited range of motion and possible hip dislocation
 generalized atherosclerosis, leading to cardiovascular and heart disease
The connective tissue in the skin tends to become tough and hardened.
Tests may also show signs of insulin resistance, but cholesterol and triglyceride
levels should be normal.
Progeria does not impact the child's brain development or intelligence, and it does
not mean a higher risk of infection. It does not affect motor skills, so children with
the condition can sit, stand, and walk like any other child.
Children from any ethnic background can have progeria, but they will have a
similar appearance.

TRAETMENT
There is no cure for progeria, but occupational and physical therapy can help the
child keep moving if their joints are stiff.
Heart health is critical for people with progeria, so the doctor may prescribe
statins, nitroglycerin for angina, and routine therapy for congestive heart failure.
Eating healthily and getting regular exercise are important.
Some patients may have cardiac surgery to slow the progression of heart disease.
Self-care tips may include eating different foods when the lipid, or fat, profile
begins to change, and eating small meals regularly to maximize calorie intake.
Sun screen is important for protecting the skin, and padding in shoes can help
minimize discomfort caused by a lack of fat padding on the body.
OUTLOOK
In children with progeria, genetic factors increase the risk of developing
progressive heart disease from an early age.
Children with progeria commonly experience cardiovascular events, such
as hypertension, or high blood pressure, stroke, angina, an enlarged heart, and
heart failure. These conditions are linked to aging.
The increased risk of heart disease means that life expectancy is normally between
8 years and 21 years, with an average of 14.6 years.

DIAGNOSIS
A doctor may suspect progeria by observing the signs and symptoms, for
example, aging skin and hair loss.
A test for HGPS is available. This can make diagnosis and treatment possible
from an earlier age.

RESEARCH
The cause of progeria has only recently been identified, but significant work is
taking place to try to understand it.
One possible treatment for progeria is farnesyltransferase inhibitors (FTIs). These
are currently used for treating cancer, but scientists believe they might reverse the
nuclear structure abnormalities that are thought to cause progeria.
Studies on mice with progeria-like signs and symptoms suggest that FTIs may
offer some improvement.
In September 2012, results were released for a first clinical drug trial treatment for
children with Progeria, using an FTI.
The findings showed significant improvements in bone structure, weight gain, and
the cardiovascular system.
In 2014, another study indicated that an FTI known as lonafarnib may increase
lifespan by an average of 1.6 years.
Scientists are interested in understanding progeria. It may offer new insights into
the aging process.
The Progeria Research Foundation has created a diagnostic testing program.
 SPECIAL PEOPLE WITH SPECIAL HEART

1. Adalia Rose

Birthday : December 10, 2006

Nationality : American
Age : 13 Years
Sun Sign : Sagittarius
Born In : Round Rock, Texas, United States
Famous As : YouTuber

2. Sam Berns

Born : Sampson Gordon Berns

October 23, 1996
Providence, Rhode Island, U.S.
Died : January 10, 2014 (aged 17)
Foxborough, Massachusetts, U.S.

Cause of death: Complications from Progeria

Nationality : American

Education : Foxborough High School

Occupation : Activist

Known for : HBO documentary on progeria,

spreading progeria awareness