Newsgroup: it.istruzione.universita
Titolo: AIUTO:malattia che provoca invecchiamento nei bambini

Se qualcuno mi puo' dare una mano, gli sarei molto grato.
Sto preparando una tesina per l'esame di Stto.
Mi piacerebbe trattare la malattia che provoca l'invecchiamento precoce nei
bambini, ma non riesco a scoprire il nome, e soprattutto delle informazioni
su di essa.
Se avete informazioni fatemele sapere all'indirizzo
man...@cbmail.it
GRAZIE!!!!!

 su di essa.
Ecco qui!
Dr. Paolo Tomasi
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PROGERIA
Alternative titles; symbols
HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
TEXT
Precocious senility of striking degree is characteristic of this exceedingly
rare disorder. Death from coronary artery disease is frequent and may occur
before 10 years of age. Hastings Gilford (1904) gave the name progeria to
this disorder in an article in which he also assigned the term ateleiosis to
a pituitary growth hormone deficiency (262400). He provided no photographs
of progeria and indicated that 'only two well-marked instances have so far
been recorded.' Death from angina pectoris at age 18 years was noted.
Jonathan Hutchinson (1886) had previously written about the disorder
(McKusick, 1952). Ogihara et al. (1986) described a Japanese patient with
progeria who survived to age 45, dying of myocardial infarction. Clinically,
he seemed typical except for the unusually long survival. According to
reviews of the literature, the age at death ranges from 7 to 27.5 years,
with a median age of 13.4 years. Dyck et al. (1987) reported coronary artery
bypass surgery and percutaneous transluminal angioplasty in a 14-year-old
girl with this disorder.
Recessive inheritance was suggested by the report from Egypt of affected
sisters, children of first cousins (Gabr et al., 1960). Paterson (1922)
recorded the cases of 2 possibly affected brothers; photographs were not
published and the diagnosis is not completely certain. The full report was
simply the following: 'A boy, aged 8 years. Condition has been present since
birth. The father and mother are first cousins. There are 4 children in the
family; the girls are unaffected, both boys are affected. The senile
condition of the skin and facies should be noted. The vessels show
arteriosclerosis. (There is almost complete absence of subcutaneous fat.)'
Erecinski et al. (1961) described photographically typical progeria in 2
brothers, and, among the 9 offspring of 2 sisters, Rava (1967) found 6
affected. Khalifa (1989) described a consanguineous Libyan family in which 2
males and 1 female in 2 sibships related as cousins had seemingly typical
Hutchinson-Gilford progeria. Repeated nonhealing fractures were the
presenting manifestation in the proband. Maciel (1988) reported an inbred
Brazilian family in which presumed Hutchinson-Gilford progeria had occurred
in members of 2 sibships related as first cousins once removed. Although
autosomal recessive inheritance was unmistakable, it was by no means certain
that this involved true progeria. The 2 brothers reported as having progeria
by Parkash et al. (1990) probably had mandibuloacral dysplasia (248370).
DeBusk (1972) maintained that of 19 cases reported to that date in which
consanguinity was sought, in only 3 were the parents related. Conceivably
progeria is a dominant and the rare instances of affected sibs are the
result of germinal mosaicism. Fatunde et al. (1990) described a family in
which 3 of 6 sibs had progeria. A seventh sib, who had died before the time
of study, may have been affected. DeBusk (1972) and Jones et al. (1975)
reported a paternal age effect, supporting autosomal dominant inheritance.
In 20 cases in which parental age was known, the mean paternal and maternal
ages were 35.6 and 28.8 years, respectively, and the median ages 31 and 28,
respectively. In 7 U.S. cases, the mean paternal age was 37.1. Brown (1979)
favored autosomal dominant inheritance (most cases resulting from new
mutation) because of the paternal age effect, the low frequency of parental
consanguinity, and the report of progeric monozygotic twins with 14 normal
sibs.
Ayres and Mihan (1974) suggested that a fault in vitamin E metabolism may be
at the root of progeria and recommended vitamin E therapy for its
antioxidant effect. In cultured skin fibroblasts of patients with progeria,
Goldstein and Moerman (1978) demonstrated an increased fraction of
heat-labile enzymes and other altered proteins. Freshly obtained cells,
namely, erythrocytes, showed similar heat-lability of G6PD and
6-phosphogluconate dehydrogenases in a girl with progeria. Both parents
showed intermediate values, consistent with recessive inheritance. The
primary source of the multiple protein defects is unknown. Normal HLA
antigens were found by Brown et al. (1980).
Brown et al. (1990) described identical twins with progeria who developed
heart failure at the age of 8 and died within 1 month of each other.
Cytogenetic analysis showed an inverted insertion in the long arm of
chromosome 1 in 70% of cells. Brown et al. (1990) suggested that a gene for
progeria may be located on chromosome 1. Evidence for possible bioinactive
growth hormone was presented with a suggestion of treatment of progeria with
growth hormone.
Rodriguez et al. (1999) reported the case of a 35-week gestation female
fetus with a severe prenatal form of progeria. The patient was born by
cesarean section. Severe growth retardation and oligohydramnios had been
detected at 32 weeks by ultrasonography. This was the first patient reported
in the English literature; 3 cases of neonatal HGPS had been reported in
France (De Martinville et al., 1980; Labeille et al., 1987). All 4 patients
died early, 2 on the first day of life and the others at 6 and 20 months of
age, respectively. Unlike classic HGPS, however, none of the 4 presented
clinical signs of coronary occlusion. Faivre et al. (1999) concluded that
the patient reported by Rodriguez et al. (1999) could not in fact have had
Hutchinson-Gilford progeria syndrome. They also thought it unlikely that the
infant had Wiedemann-Rautenstrauch syndrome, also known as neonatal
progeroid syndrome (264090). Rodriguez and Perez-Alonso (1999) defended the
'diagnosis of progeria syndrome [as] the only one possible.'
SEE ALSO
Brown and Darlington (1980); Goldstein and Moerman (1975); Harley et al.
(1981); Rautenstrauch et al. (1977); Viegas et al. (1974)
Clinical Synopsis
Growth :
Short stature
Skin :
Alopecia
Facies :
Facial hypoplasia
Micrognathia
Cardiac :
Premature arteriosclerosis
Premature coronary artery disease
Angina pectoris
Myocardial infarction
Congestive heart failure
Endocrine :
Absence of subcutaneous fat
Skel :
Repeated nonhealing fractures
Misc :
Premature aging
Paternal age effect
Inheritance :
Probably autosomal dominant with rare instances of affected sibs due to
germinal mosaicism
Copyright © 2000 Johns Hopkins University
REFERENCES
1. Ayres, S. C.; Mihan, R. :
Progeria: a possible therapeutic approach. (Letter) J.A.M.A. 227: 1381-1382,
1974.
PubMed ID : 4406015
2. Brown, W. T. :
Human mutations affecting aging--a review. Mech. Aging Dev. 9: 325-336,
1979.
PubMed ID : 155763
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Friedman, S.; Cervantes, C.; Bandyopadhyay, S.; Zaslav, A.; Kunaporn, S.;
Serotkin, A.; Lifshitz, F. :
Hutchinson-Gilford progeria syndrome: clinical, chromosomal and metabolic
abnormalities. (Abstract) Am. J. Hum. Genet. 47 (suppl.): A50 only, 1990.
4. Brown, W. T.; Darlington, G. J. :
Thermolabile enzymes in progeria and Werner syndrome: evidence contrary to
the protein error hypothesis. Am. J. Hum. Genet. 32: 614-619, 1980.
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Detection of HLA antigens on progeria syndrome fibroblasts. Clin. Genet. 17:
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The Hutchinson-Gilford progeria syndrome. J. Pediat. 80: 697-724, 1972.
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Progeria de Gilford-Hutchinson a debut neonatal chez des jumeaux
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Progeria, a pathologic study. J. Pediat. 57: 70-77, 1960.
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Ateleiosis and progeria: continuous youth and premature old age. Brit. Med.
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Heat-labile enzymes in circulating erythrocytes of a progeria family. Am. J.
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Decreased sensitivity of old and progeric human fibroblasts to a preparation
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17. Hutchinson, J. :
Case of congenital absence of hair, with atrophic condition of the skin and
its appendages, in a boy whose mother had been almost wholly bald from
alopecia areata from the age of six. Lancet I: 923 only, 1886.
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Older paternal age and fresh gene mutation: data on additional disorders. J.
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Case of progeria. Proc. Roy. Soc. Med. 16: 42 only, 1922.
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Su un nucleo familiare di progeria. Minerva Med. 58: 1502-1509, 1967.
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Diagnosis of progeria syndrome is the only one possible. (Letter) Am. J.
Med. Genet. 87: 453-454, 1999.
PubMed ID : 10594889
29. Rodriguez, J. I.; Perez-Alonso, P.; Funes, R.; Perez-Rodriguez, J. :
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242-248, 1999.
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