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Hutchinson-Gilford Progeria Syndrome (Progeria)
Transcript of Hutchinson-Gilford Progeria Syndrome (Progeria)
Signs & Symptoms
Tests & Diagnostics
Keep patients with Progeria well-hydrated to decrease cardiovascular demands.
Headaches occur frequently in these children.
Keep the patient's room dark and cool
Decrease the amount of noises in the room
Watch for signs of a stroke
Small, frequent meals
These children take in enough calories, but they do not grow at a normal rate.
Parents have reported that small, frequent meals
• Hutchinson-Gilford Progeria Syndrome (HGPS), also known as Progeria, is a autosomal dominant genetic disorder.
• It’s a very rare disease that causes children who suffer from the disease to rapidly age.
• Hutchinson-Gilford Progeria Syndrome was named after Dr. Jonathan Hutchinson and Dr. Hasting Gilford, who were the two doctors that discovered the disease.
• Around ages 18-24 months, children who suffer from Progeria experience signs and symptoms of rapid aging.
• The average life expectancy for a child with Progeria is 13 years of age.
• Most children with Progeria suffer from a myocardial infarction or stroke, leading to their death.
• While there isn’t a cure for Progeria, ongoing clinical trials are working to discover treatments for this disease.
Small body stature
Normal size at birth but a slow growth pattern
Veins are prominent
Diminished body fat and muscle
Loss of eyebrows, eyelashes, and hair
• Manifestations of progeria include atherosclerosis, osteoporosis, loss of subcutaneous fat and muscle, and poor growth.
• While children affected by progeria show several signs of normal aging for older adults, these children are not at an increased risk of developing cancer or cataracts.
• Progeria is caused by a buildup of the protein, progerin. Progerin is very similar to the protein, lamin A, which is a protein responsible for DNA repair, nuclear integrity, and gene expression. Progerin is found in large quantities in older adults, as well.
• Smooth muscle cells in the vessels of children with progeria decrease in quantity and harden. There’s also a marked build-up of progerin in these vessels.
• Autosomal-dominant genetic mutation
• Patient has shown signs of baldness, aged looking skin, pinched nose, and a small face
• The patient also can have hip dislocation, cardiovascular disease, and stiffness of joints
• There is a genetic test that can be done that looks for the mutation of the gene LMNA (Lamin A) that causes HGPS.
• HGPS happens when the mutation causes abnormal Lamin A protein (progerin) which is needed to maintain the integrity of the cell.
Farnesyltransferase Inhibitors - Lonafarnib
Mechanism of action:
In normal cells prelamin A has a molecule attached to it called the farnesyl molecule, which is removed
FTIs inhibit the attachment of Progerin to the farnesyl molecule
This restores the nucleus and stabilizes damage caused by Progeria
Side effects of FTIs used for Progeria are diarrhea and changes in blood liver tests.
The Progeria Research Foundation's clinical study:
Found a 50% increase in annual weight gain for trial patients
Decreases in arterial pulse wave velocity and carotid artery echodensity for trial patients
Increases in skeletal rigidity and sensorineural hearing for trial patients
Pharmacologic & Nonpharmacologic Treatments
• There is no cure found for progeria.
• Many of the treatments focus on fixing cardiovascular problems because of the high mortality rate due to heart attacks
• They can undergo coronary artery bypass surgery to relieve complications from progressive artherosclerosis
• Physical therapy- joint stiffness and hip problems
• Extration of primary teeth- prevent overcrowding
Increased weight gain, bone structure, flexibility of blood vessels
o Low dose aspirin- prevent heart attacks and stroke
o Statins- to lower cholesterol
o Anticoagulants- help prevent blood clots
o Growth hormone- help increase height and weight
o Lonafarnib, farnesyltransferase inhibitor (FTI)
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