Primary ciliary dyskinesia: A multicenter survey on clinical practice and patient management in Italy.

INTRODUCTION: There are no recent data on primary ciliary dyskinesia (PCD) distribution, diagnosis and treatment in Italy. METHODS: A descriptive study based on a survey questionnaire. It consisted of three sections (patients, diagnosis, and treatment), and sent to all the Italian PCD Centers. RESULTS: Questionnaires obtained from 20/22 centers in 12/20 regions showed that the total number of PCD patients treated at the participating centers was of 416. Out of all centers, 55% follow <20 patients, two centers have >40 patients, and 75% follow both pediatric and adults. Age at diagnosis was between 4 and 8 years in 45% of the centers, <3 years in three centers. Nasal nitric oxide, transmission electron microscopy and ciliary high-speed video microscopy are performed in 75%, 90%, and 40% of centers, respectively. Immunofluorescence is available in five centers. Genetic analysis is offered in 55% of the centers, and in seven centers >50% of the patients have a known genetic profile. Patients treated at all centers receive inhaled saline solutions, corticosteroids and chest physiotherapy. Prophylactic antibiotics and mucolytics are prescribed in 95% and 50% of the centers, respectively. Pseudomonas infection is treated with oral or inhaled antibiotics. CONCLUSIONS: Many Italian centers care for a small number of pediatric and adult patients, and diagnosis is often delayed. We found a great variability in the available diagnostic procedures, as well in the prescribed therapies. Our study will help to uniform diagnostic algorithm and share treatments protocols for PCD in Italy and allowed to set specific national goals.

Comparison of esophageal pH and multichannel intraluminal impedance testing in pediatric patients with suspected gastroesophageal reflux.

BACKGROUND: Multichannel intraluminal impedance (MII) is a pH-independent method of assessing gastroesophageal reflux. AIM: To evaluate the diagnostic accuracy of MII-pH as compared with conventional pH monitoring in detecting reflux events (REs) and symptom association in different age groups. METHODS: : A prospective direct comparison of 2 diagnostic techniques on 291 consecutive patients referred for suspected gastroesophageal reflux disease. Sensitivity and diagnostic accuracy of MII-pH versus pH monitoring and symptom association were measured. RESULTS: MII-pH detected 13631 REs, 6260 (46%) of which were nonacid. The prevalence of weakly acid refluxes in the 24 hours and postprandial period as well as the proximal extension of refluxate were significantly greater in infants as compared with children (P < 0.001, P < 0.001, and P < 0.01, respectively). The diagnostic accuracy of combined MII-pH in revealing all RE and acid RE were significantly higher in infants as compared with children (92% vs 82%, P < 0.01 and 83% vs 76%, P < 0.04, respectively). The addition of MII to conventional pH monitoring significantly increases the diagnostic yield of symptom association analysis in revealing an association between atypical symptoms and refluxes irrespective of age, whereas in studying typical symptoms it was true only for infants. CONCLUSIONS: Addition of MII to conventional pH monitoring significantly increases the diagnostic yield in detecting REs, prevalently in infants, and in revealing an association between refluxes and symptoms, prevalently respiratory ones and in infants group.

Association of interleukin-10 gene haplotypes with Pseudomonas aeruginosa airway colonization in cystic fibrosis.

We genotyped three polymorphisms of the promoter region of the interleukin-10 (IL-10) gene in 220 CF patients from the CF Center of Bari, and tested for an association between genetic variants of the cytokine and chronic airway colonization with Pseudomonas aeruginosa. We found that carriers of the high-IL-10-producing-GCC haplotype had significantly higher risk of chronic pulmonary infection with the pathogen.

Phenotypic expression of genotype-phenotype correlation in cystic fibrosis patients carrying the 852del22 mutation.

Currently, more than 1,000 mutations have been identified in the cystic fibrosis transmembrane regulator (CFTR) gene. While some mutations are common worldwide, the majority are restricted in certain ethnic groups. We have found that in Southern Italy, the 852del22 mutation is well represented with a frequency of 3.5%. We have screened, by reverse dot blot, denaturing gradient gel electrophoresis (DGGE), and gene sequencing, the entire coding regions of CFTR gene in 371 consecutive cystic fibrosis (CF) patients from Southern Italy and have identified 17 patients carrying rare genotypes, among which 13 [6 M; median age 21.7 years (range: 4.5-47.7 years)] carry the 852del22 mutation. To assess the phenotypic expression of CF in patients with the 852del22 mutations we have compared these patients with a group of age and gender matched patients homozygous for the DeltaF508 mutation [n = 34; 19 M; median age 19.9 years (range: 3.8-34.6 years)]. Overall, we found no difference in terms of complications, patient survival (17.6% vs. 30.7%; P = NS), estimated time needed to develop a severe lung disease (22.1 vs. 24.5 years; P = NS), nutritional status, and rate of infection or colonization by most common pathogens between patients in the two groups. Finally, we have found that a late diagnosis was associated with a poor outcome (severe lung disease) regardless of genotype. Our data show that 852del22 mutation results in a phenotypic expression of disease as severe as that determined by the more typical DeltaF508 and, as in the latter case, there is no strict genotype/phenotype correlation.