In order to evaluate the role of Mycoplasma pneumoniae and Chlamydia pneumoniae in reactive airway disease, 71 children aged 2±14 yrs with an acute episode of wheezing and 80 age-matched healthy children were studied.Sera for the determination of specific antibody levels and nasopharyngeal aspirates for the detection of M. pneumoniae and C. pneumoniae deoxyribonucleic acid were obtained on admission and after 4±6 weeks. All children with wheezing received a standard therapy with inhaled corticosteroids and bronchodilators for 5±7 days; when antibiotic was added on the basis of the judgement of the paediatrician in charge, clarithromycin 15 mg . kg body weight -1 . day -1 for 10 days was used.Acute M. pneumoniae and C. pneumoniae infections were detected significantly more often in children with wheezing than in controls. In patients infected with one of the two pathogens, a history of recurrent wheezing was significantly more frequent than in those without either infection. During a 3-month follow-up period, among nonantibiotic-treated children, those with acute M. pneumoniae and/or C. pneumoniae infection showed a significantly higher recurrence of wheezing than those without acute M. pneumoniae and/or C. pneumoniae infection (p=0.03).These results highlight the apparently significant relationship of Mycoplasma pneumoniae and Chlamydia pneumoniae with wheezing in children, particularly in subjects with a history of recurrent episodes, and the possible improvement in the course of reactive airway disease within paediatric patients with acute Mycoplasma pneumoniae and/or Chlamydia pneumoniae infection.

Sporadic porphyria cutanea tarda (PCT) is caused by a reduced activity of uroporphyrinogen decarboxylase (URO-D) in the liver. Mild to moderate iron overload is common in PCT, as iron is one of the factors which trigger the clinical manifestations of the disease through the inactivation of URO-D. A role for genetic hemochromatosis in the development of iron overload in sporadic PCT has been hypothesized in the past. The aim of this work was to investigate whether mutations of HFE, which is a candidate gene for hemochromatosis, play the role of genetic susceptibility factors for PCT in Italian patients, who have a high prevalence of acquired triggering factors, such as hepatitis C virus (HCV) chronic infection and alcohol. We determined HFE genotypes of 68 male patients with PCT. Our data do not confirm an association of PCT with the Cys282Tyr HFE mutation, strongly associated with hemochromatosis in Northern European countries. A second mutation of HFE, His63Asp, however, had a significantly increased frequency as it was present in half of the patients. Surprisingly, the presence of the His63Asp mutation was not related to the iron status of patients, suggesting that a subtle abnormality of iron metabolism induced by this mutation could escape detection by the standard parameters of iron status. In PCT patients with liver disease, the presence of the mutation could contribute to the inactivation of URO-D, either directly or through a synergistic action with other factors that cause liver damage. (HEPATOLOGY 1998;27;181-184.)

No abstract

Severe iron overload has been reported in patients with the beta-thalassaemia trait. Studies performed before the discovery of the haemochromatosis gene (HFE) have yielded conflicting results: some suggest that iron overload might arise from the interaction of the beta-thalassaemia trait with heterozygosity for haemochromatosis, some with homozygosity for haemochromatosis and others that it was unrelated to haemochromatosis. We have studied the clinical phenotype, iron indices and HFE genotypes of 22 unrelated patients with the beta-thalassaemia trait and haemochromatosis, the inheritance of chromosome 6p and 1q haplotypes in families of non-homozygous C282Y probands and serum measures of iron status in relatives heterozygous for C282Y with or without the beta-thalassaemia trait. We demonstrate that the beta-thalassaemia trait aggravates the clinical picture of C282Y homozygotes, favouring higher rates of iron accumulation and the development of severe iron-related complications. We suggest that the coexistence of the beta-thalassaemia trait might also increase the risk of iron overload in patients with HFE genotypes at a mild risk of haemochromatosis. Our findings do not support the hypothesis that the association of the beta-thalassaemia trait with a single C282Y or H63D allele might lead to iron overload and suggest that other non-HFE-related inherited factors are present in haemochromatosis patients with incomplete HFE genotypes.

the expression of the disease is affected by genetic factors. 3,4 We evaluate the relation between genotype and phenoHaplotype analysis in Australian patients of Irish or Scottish type in 47 Italian male patients with homozygous genetic origin provides evidence of a common ancestral haplotype hemochromatosis (GH). Phenotype evaluation was characterized by the combination of D6S265-1, HLA-A3, based on the ratio of amount of iron removed (IR) by D6S105-8 alleles. is associated with a common mutation. Besides the HLApresent in 13 of 52 (25%) chromosomes in class I and A3 linked haplotype, a further haplotype restricted to GH in 24 of 42 (57%) chromosomes in class II (P Å .0027).chromosomes, which possesses HLA-A11 and the allele 2 of Homozygotes and heterozygotes for the ancestral haplo-HLA-F (restriction fragment length polymorphism), has been type had higher iron indices than patients carrying two described. 10 It is likely that this haplotype harbors a second haplotypes other than the ancestral one. Seven of the independent mutation different from the ancestral one. Seveight patients homozygous for the ancestral haplotype eral other haplotypes have been found in GH 5,6,8 suggesting were in class II, heterozygotes were equally distributed the possibility of heterogeneous molecular defects in contrast between the two classes, whereas 14 of 18 carriers of to the original hypothesis of a unique ancestral mutation as other haplotype combinations were in class I. Our reresponsible for all GH cases in white population. Both clinical presentation and body iron stores differ in three different clinical centers in northern Italy. They were aged 25 patients with genetic hemochromatosis (GH). Women usually to 68 years (mean { SD: 44.5 { 11). Inclusion criteria were: (1) no develop symptoms and signs of the disease later in their life known causes of secondary iron overload; (2) hepatocellular hemosidbecause of menstrual blood losses and pregnancy. Age, di-erin deposits of IIIЊ-IVЊ; (3) HII greater than 2 and/or a total amount of iron removed (IR) by phlebotomy to achieve iron depletion higher etary habits, and factors such as blood donations and blood than 5 g; and (4) availability of relatives to perform molecular studies losses can modify hepatic iron stores. Heavy alcohol intake and unambiguously assign haplotypes linked to the GH gene. Excluand chronic viral hepatitis facilitate the development of liver sion criteria were: (1) female sex; (2) history of chronic blood losses damage in patients with GH. 1,2 Phenotypic concordance beor blood donations; and (3) history of blood transfusions or parenteral tween siblings with homozygous GH provides evidence that iron administration.The presence of fibrosis or cirrhosis was determined at liver biopsy. Cardiopathy was based on physical signs of heart failure and/or left ventricular dilatation with low left ventricular ejection fraction and luteinizing hormone levels were considered affected by pituitary hy-