An overview of international literature from cystic fibrosis registries. Part 3. Disease incidence, genotype/phenotype correlation, microbiology, pregnancy, clinical complications, lung transplantation, and miscellanea

Abstract

This is the third article related to a review of the literature based on data from national cystic fibrosis (CF) patient registries up to June 2008 and covering a total of 115 published studies. It focuses on several topics: CF incidence, genotype/phenotype correlation, microbiology, pregnancy/paternity, clinical complications, lung transplantation, and others. Seventy seven papers meeting the inclusion criteria were found to be related to the topics listed above. Another seven studies, already evaluated in previous papers of this series, were recalled for specific topics. Incidence is described by several studies, results being quite different from one country to another and quite inhomogeneous among regions within the same country. Studies on genetics address the genotype/phenotype correlation and look for a predictive value of CFTR mutations in terms of clinical outcome, with controversial results. Papers on microbiology describe the clinical relevance of different pathogens and their role in the progress of CF lung disease. A few articles give information on the features of CF women undergoing a pregnancy and try to identify the ones associated with a better outcome. Studies on clinical complications discuss prevalence and the role of haemoptysis, pneumothorax, CF related diabetes, ABPA and cancer. Papers on lung transplantation focus on models able to improve the selection criteria for transplantation candidates and the factors linked to post transplantation survival. Finally, several studies deal with a number of interesting topics related to CF epidemiology: clinical trial methodology, quality of care comparison among countries and centers, relationship between diagnosis and age/gender, and evaluation of pharmacological therapy. On the whole, CF Registries have already contributed to important advances in the knowledge of the natural history of CF, establishing the foundations for future improvement in CF research and care.

An overview of international literature from cystic fibrosis registries. Part 4: Update 2011

“…Quite a large number of papers report registry data. We have already provided reviews of this literature; the last update was in June 2008 [2][3][4]. Since then, several papers based on national registry data have been published worldwide.…”

The Genetics of CFTR: Genotype - Phenotype Relationship, Diagnostic Challenge and Therapeutic Implications

“…Superimposed to these genetic sources of variability the powerful role of environmental and random factors on both steps should not be undervalued. Due to these sources of variability, the genotypephenotype relationship in CF is still poorly understood (Salvatore et al, 2011) with, therefore, our diagnostic, prognostic and therapeutic abilities severely limited.…”

A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis

“…Cystic fibrosis (CF; MIM #219700) is the most common life-shortening, childhood-onset, autosomal recessive disorder in populations of European descent, with an average incidence estimated at 1 in 3,500 live births and a carrier frequency of 1 in 30 [1]. Prenatal diagnosis (PND) of CF is available to couples in which both parents are known to be carriers of a CF mutation.…”