Progeria, Progeria disease
In media, un bambino nato con progeria muore all’età di 13 anni. Vedono i loro corpi avanzare rapidamente attraverso il normale processo di invecchiamento che colpisce sviluppando sintomi fisici, spesso con calvizie prematura, malattie cardiache , assottigliamento delle ossa e artrite.
La progeria è estremamente rara, ci sono solo circa 48 persone che vivono con questa malattia. Esiste, però, una famiglia i cui 5 bambini sono tutti malati.
Progeria is a progressive genetic disorder that causes children to age rapidly, beginning in their first two years of life. The condition is rare; since the first child with progeria was described in 1886, only about 100 cases of progeria have been documented in the scientific literature.
Children with progeria, also known as Hutchison-Gilford progeria syndrome (HGPS), generally appear normal at birth. By 6 to 12 months, signs and symptoms, such as skin changes and hair loss, begin to appear. The average life expectancy for a child with progeria is 13, but some with the disease die younger and some live longer,up to the age of 30. For at least 90 percent of children with progeria, the cause of death is a complication of the progressive stiffening of the arteries that lead to the heart and brain.There's no cure for progeria, but ongoing research shows some promise for treatment.
SymptomsUsually within the first year of life, growth of a child with progeria slows markedly so that height and weight fall below average for his or her age, and weight falls low for height. A child with progeria develops an appearance typical of those with the disorder, including a narrowed face and beaked nose, which makes the child look old.
Motor development and mental development remain normal. Other signs and symptoms of this progressive disorder include:
Hair loss (alopecia), including eyelashes and eyebrows
Hardening and tightening of skin on trunk and extremities (scleroderma)
Loose, aged-looking skin
Head too large for face
Prominent scalp veins
Small lower jaw (micrognathia)
Delayed and abnormal tooth formation
Loss of body fat and muscle
CausesIn 2003, researchers announced the discovery of a single gene mutation responsible for Hutchison-Gilford progeria syndrome. The gene is known as lamin A (LMNA), which makes a protein necessary to holding the center (nucleus) of a cell together. Researchers believe the genetic mutation renders cells unstable, which appears to lead to progeria's characteristic aging process.
Unlike many genetic mutations, Hutchison-Gilford progeria isn't passed down in families. Rather, the gene change is a chance occurrence that researchers believe affects a single sperm or egg just before conception. Neither parent is a carrier, so the mutations in the children's genes are new (de novo).
There are, however, other progeroid syndromes that run in families. They include Wiedemann-Rautenstrauch syndrome and Werner's syndrome. In Wiedemann-Rautenstrauch syndrome, also known as neonatal progeroid syndrome, onset of aging begins in the womb, and signs and symptoms are apparent at birth. Werner syndrome begins in adolescence or early adulthood. These inherited progeroid syndromes also cause rapid aging and shortened life span.
Tests and diagnosisNo diagnostic test confirms progeria. Doctors typically make a diagnosis based on signs and symptoms, such as failure to grow and hair loss, that typically aren't fully evident until your child is nearly 2. However, with the discovery of the genetic mutation that causes progeria, it's possible to use genetic testing for LMNA mutations at the first suspicion of progeria. The sooner you know your child has progeria, the sooner your doctor can recommend treatments that may help ease the signs and symptoms of the disorder.
A blood test may reveal that your child has a low level of high-density lipoprotein (HDL) cholesterol, the so-called good cholesterol that helps keep arteries open. This laboratory finding isn't diagnostic by itself, but may lend support to a diagnosis of progeria.