Hutchinson-Gilford progeria syndrome, or HGPS, is a genetic disorder characterized by premature aging and early death. HGPS is a sporadic genetic disorder, which indicates that it generally happens at random and occurs in families only rarely. It was first described in 1886 by Jonathan Hutchinson (1828-1913), a British surgeon, and independently reported in 1897 by Hastings Gilford (1861-1941), also a British surgeon. Kids with HGPS appear normal at birth but begin to show signs of the disorder during the first two years of life.
Their development slows down; this condition is called failure to thrive or FTT. The child is short and little for his or her age, develops wrinkled skin like that of an elderly person, loses the body fat beneath the skin, and has a fragile-looking body with joints that stick out and easily dislocated hips. The child’s facial features are also distinctive, with big eyes, loss of scalp hair, a beaklike nose, thin lips, a small chin, and big ears.
Some children have missing teeth or teeth that are late to come in. The child’s physique ages six to eight times faster than regular aging; nevertheless, these children do not develop certain age-related problems like cataracts or an increased risk of cancer.
The disorder does not interfere with intellectual improvement or with sitting, standing, and walking. Children with HGPS can visit school with other kids and participate in actions with them. The disease leads to death at an early age from heart attack or stroke triggered by premature hardening of the arteries. Kids with HGPS frequently experience angina chest pain triggered by an inadequate supply of oxygen to the heart muscle. They also endure from high blood pressure and enlargement of the heart.
HGPS is a very uncommon disorder, thought to have an effect on in between one in 8 million and one in 4 million kids. About 130 cases have been reported in medical journals since the illness was first described in 1886. There were seven kids in the United States with progeria in 2005. As of 2008, 97 % of reported cases of HGPS had been found in Caucasians. The cause for this racial disparity is not but recognized; since some researchers think that the disorder is misdiagnosed in some cases, it is feasible that the racial difference is a minimum of partly a matter of reporting.
HGPS affects boys slightly more often than girls; the gender ratio is about 1.5 boys for every girl. For many years it was thought that HGPS does not run in families. Since the early 2000s, however, two families have been identified with more than one youngster affected by the disorder. The first is really a family in India with 5 kids with HGPS, first described by a pediatrician in Calcutta in 2005. The other is a family in Belgium with two kids with HGPS that was diagnosed in 2006.
Hutchinson-Gilford progeria syndrome is triggered by a mutation in a gene on chromosome 1 known as the LMNA gene. This gene tells cells how you can make a protein called lamin A, which helps to shape the cell nucleus inside the cell. The defective gene involved in HGPS can't give the cell correct instructions for making lamin A. As a result, the cell nucleus develops into a strange and twisted shape rather than the normal round shape. It isn't recognized, nevertheless, just how the unstable shape of the cell nucleus is related towards the characteristic symptoms of HGPS.
Children with HGPS are usually diagnosed around two years of age, when the changes in their skin, their distinctive facial features, and their failure to develop usually become apparent. The diagnosis could be confirmed by a blood test that was created in 2003 after the gene that causes the disorder was first identified. The doctor may also take a little sample of skin to examine it under the microscope for the changes that indicate HGPS, but this test isn't essential to diagnose the disorder.
There is no treatment that can cure HGPS. Therapy is intended to give the youngster as regular a life as feasible. Some kids are given a every day aspirin to counteract the threat of heart attack or stroke, and doctors commonly suggest a high-calorie diet plan to help them gain weight. Children with HGPS might also benefit from physical therapy to maintain their muscles and joints from weakening. Children with HGPS should see the doctor periodically to have the condition of their heart and major blood vessels checked and to have their food intake adjusted when necessary.
HGPS is invariably fatal; 90 % of kids having the disorder die of heart attacks or stroke. The average life expectancy is thirteen years, although some children die as young as six or seven. The longest-lived person with HGPS died at twenty-nine. Since HGPS is a genetic disorder, there's no recognized way to stop it.
HGPS is of interest to researchers, together with such other disorders of accelerated aging as Werner syndrome, because they think these illnesses may hold clues to the regular procedure of human aging. In regard to a feasible remedy for HGPS, a clinical trial of a drug called lonafarnib, originally created to treat cancer, began in Might 2007. Some researchers are experimenting with development hormone as a feasible treatment for HGPS, but the results have not been encouraging.
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