Incidence of pertussis in the province of Pesaro-Urbino (Italy).

Pertussis vaccination coverage in the Marche region is one of the lowest in Italy, with the province of Pesaro-Urbino remaining stable below 95% coverage since at least 2013. In this paper, we retrospectively analyzed all whooping cough notification cards arriving at the prevention department of the Area Vasta 1 Health Office in the Marche region and relating to the Pesaro-Urbino province (Italy). Between 2012 and 2017, there were 28 reported cases of pertussis with a peak in 2016 (11 cases, of which seven were in Urbino). The 28 patients were mostly male (65%), and had a mean age of 9 years. Three of these were not Italian. Between 2012 and 2017, the district of Pesaro reported the highest number of cases (almost 46.5% of the total), followed by Urbino (28.5%) and Fano (25%). The average incidence in the province in the period in question, still under 2 cases/100,000 inhabitants, arrived in 2016 at 4 cases/100,000 inhabitants. In particular, in Urbino there was an unforeseen incidence >8 cases/100,000 inhabitants. There were no deaths, although two children (both under 12 months of age) were hospitalized. Our data confirm that in 2016 there was a pertussis epidemic in Urbino (Italy).

Report on three cases of pertussis in the Urbino area (Italy).

Pertussis is a contagious, infectious disease that affects mainly children and is caused by Bordetella pertussis. The pertussis vaccine has changed the epidemiology of the disease up to the point when it almost vanished, with a minimum number of cases recorded in Italy (2008) when vaccination coverage was 97%. For the same reason the natural history of the disease was also modified. Indeed, in high-income countries the lack of immunity acquired with the vaccine causes adolescents and adults to become an important source of infection for unvaccinated subjects, the newborn and children who have not completed their primary education. The reduction in the vaccinated pediatric population and the loss of acquired immunity could be the cause of the re-emergence of a disease which, in developing countries, has a 4% mortality rate among children under one year of age. In this work we describe three cases of pertussis that are apparently unrelated. They occurred in the area of Urbino in a period of slightly under a month. Italy is going through a historical moment of great suspicion regarding pediatric vaccination, despite scientific evidence that should allay such suspicion. To increase people's awareness of vaccinations with a view to comments made regarding older children and adults it is our view that more effective intervention methods are needed.

Phenotypic and genetic heterogeneity in Dent's disease--the results of an Italian collaborative study.

BACKGROUND: Dent's disease is an inherited tubulopathy caused by CLCN5 gene mutations. While a typical phenotype characterized by low-molecular-weight (LMW) proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, rickets and progressive renal failure in various combinations often enables a clinical diagnosis, less severe sub-clinical cases may go under-diagnosed. METHODS: By single-strand conformation polymorphism analysis and direct sequencing, we screened 40 male patients from 40 unrelated families for CLCN5 gene mutations. Twenty-four of these patients had the prominent features of Dent's disease, including LMW proteinuria, hypercalciuria and nephrocalcinosis. RESULTS: We identified 24 mutations in the CLCN5 gene in 21/24 patients with a typical phenotype and in 3/16 patients with a partial clinical picture of Dent's disease. Overall, 10 novel CLCN5 mutations were identified (E6fsX11, W58fsX97, 267 del E, Y272C, N340K, F444fsX448, W547X, Q600X, IVS3 +2 G>C and IVS3 -1 G>A), extending the number of mutations identified so far from 75 to 85. The CLCN5 coding sequence was normal in three patients. In the group with an incomplete Dent's disease phenotype, we detected two intronic mutations and one silent substitution leading to the up regulation of an alternatively spliced isoform. CONCLUSIONS: Our data confirm the genetic heterogeneity of Dent's disease. In most classic cases, the clinical diagnosis is confirmed by genetic tests.