Presse Med
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First described as a disease of the pancreas, cystic fibrosis is a genetically inherited progressive disease affecting multiple organ systems. Pulmonary and pancreatic involvement is common in individuals with cystic fibrosis, and the former is attributable to most of the mortality that occurs with the condition. This chapter provides an overview of a clinical approach to the pulmonary and pancreatic manifestations of cystic fibrosis.
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Cystic fibrosis (CF) is a monogenic autosomal recessive disorder affecting around 75,000 individuals worldwide. It is a multi-system disease but the main morbidity and mortality is caused by chronic lung disease. Due to newborn screening, a multidisciplinary approach to care and intensive symptomatic treatment, the prognosis has dramatically improved over the last decades and there are currently more adults than children in many countries. ⋯ It is foreseeable that new combinations of compounds will further improve the correction of CFTR function. Other strategies including premature stop codon read-through drugs, antisense oligonucleotides that correct the basic defect at the mRNA level or gene editing to restore the defective gene as well as gene therapy approaches are all in the pipeline. All these strategies are needed to develop disease-modifying therapies for all patients with CF.
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Suicide is one of the leading causes of maternal mortality. Mental disorders, especially mood disorders, have been identified in most perinatal suicide cases. ⋯ Systematic screening for psychiatric conditions in the perinatal period is a priority. For women suffering from an acute psychiatric disorder, or a history of mental illness, multidisciplinary management should be implemented.