Night blindness in cystic fibrosis : the key role of vitamin A in the digestive system

Vitamin A is a fundamental micronutrient that regulates various cellular patterns. Vitamin A deficiency (VAT) is a worldwide problem and the primary cause of nocturnal blindness especially in low income countries. Cystic fibrosis (CF) is a known risk factor of VAD because of liposoluble vitamin malabsorption due to pancreatic insufficiency. We describe a case of a 9-year-old girl who experienced recurrent episodes of nocturnal blindness due to profound VAD. This little girl is paradigmatic for the explanation of the key role of the gut\u2013liver axis in vitamin A metabolism. She presents with meconium ileus at birth, requiring intestinal resection that led to a transient intestinal failure with parenteral nutrition need. In addition, she suffered from cholestatic liver disease due to CF and intestinal failure-associated liver disease. The interaction of pancreatic function, intestinal absorption and liver storage is fundamental for the correct metabolism of vitamin A

A QUALITATIVE CHARACTERIZATION OF THE CFTR GENE BY mRNA ANALYSIS

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Successful ceftazidime-avibactam treatment of post-surgery Burkholderia multivorans genomovar II bacteremia and brain abscesses in a young lung transplanted woman with cystic fibrosis

Burkholderia cepacia complex (Bcc) includes several phenotypically similar but genotypically distinct gram-negative bacteria (GNB) that can colonize the respiratory tract of Cystic Fibrosis (CF) patients. Pathogens are difficult to treat due to intrinsic resistance to multiple antibiotics and are associated to a more rapid decline in lung function and to increased mortality, particularly after lung transplantation. For all these reasons, chronic infection by Burkholderia (B) cenocepacia is presently considered a relative or absolute contraindication in almost all lung transplant centres. We report the case of a young adult CF patient chronically colonized by B multivorans genomovar II, with diabetes and end-stage renal disease treated with renal replacement therapy: a few months after lung transplantation, she developed post-surgery B multivorans bacteremia and multiple brain abscesses. This severe infection did not improve despite multiple standard antibiotic regimen. The introduction of ceftazidime-avibactam, a new \u3b2-lactam/ \u3b2-lactamase inhibitor combination resulted in clinical recovery and in radiological and biochemical improvement

Identification of insulin secretory defects and insulin resistance during oral glucose tolerance test in a cohort of cystic fibrosis patients

Background: Cystic fibrosis (CF)-related diabetes is a leading complication of CF and is associated with pulmonary and nutritional deterioration, years before an evident hyperglycemia, possibly because of insulin deficiency and resistance. Aim: To evaluate glucose tolerance, insulin secretion, and insulin sensitivity by a widely applicable method suitable for accurate and prospective measurements in a CF population. Methods: A total of 165 CF subjects (80 females) aged 17 \ub1 5 years and 18 age- and sex-matched healthy controls (CON) received an oral glucose tolerance test with glucose, insulin and C-peptide determinations. Insulin sensitivity was defined on the basis of glucose and insulin concentrations using the oral glucose insulin sensitivity index, whereas \u3b2-cell function was determined on the basis of a model relating insulin secretion (C-peptide profile) to glucose concentration. Results: Fifteen percent of CF patients had glucose intolerance and 6% had diabetes without fasting hyperglycemia and 3% had diabetes with fasting hyperglycemia. \u3b2-cell function was reduced in CF patients compared with CON (70.0 \ub1 4.1 vs 117.9 \ub1 11.6 pmol/min per m 2 per mM, P < 0.001) and decreased significantly with age by -2.7 pmol/min per m 2 per mM per year (confidence interval (CI) -4.5 to -0.82), i.e. almost 4% yearly. The early insulin secretion index was also reduced. Insulin sensitivity was similar to CON. CF patients who attained glucose tolerance comparable to CON had lower \u3b2-cell function and higher insulin sensitivity. Conclusion: The major alteration in insulin secretion and insulin sensitivity of CF patients is slowly declining \u3b2-cell function, consisting of delayed and reduced responsiveness to hyperglycemia, that in CF patients with normal glucose tolerance may be compensated by an increased insulin sensitivity

Cytokine secretion in children with acute Mycoplasma pneumoniae infection and wheeze

The aim of this study was to evaluate cytokine secretion in children with acute Mycoplasma pneumoniae infection and wheeze. We studied 25 patients aged 2-14 years with an acute episode of wheezing (15 with acute M. pneumoniae infection) and 16 healthy controls of similar gender and age (8 with laboratory evidence of asymptomatic acute M. pneumoniae infection). Serum interleukin (IL)-2, interferon (IFN)-gamma, IL-4, and IL-5 concentrations were measured in samples obtained at enrollment, using enzyme-linked immunosorbent assay kits. In the presence of wheezing, IL-5 concentrations were significantly higher in subjects with acute M. pneumoniae infection (33.415 +/- 22.138 pg/mL) than in those without such infection (2.320 +/- 1.846 pg/mL, P < 0.0001). The children with acute M. pneumoniae infection and wheeze had higher IL-5 concentrations (33.415+/-22.138 pg/mL) than those with asymptomatic acute infection and without wheeze (1.740 +/- 2.299 pg/mL, P < 0.0001). No significant between-group differences were observed in terms of IL-2, IFN-gamma, or IL-4 levels, or the prevalence of atopy. Our results show that children with wheezing and acute M. pneumoniae infection have a specific cytokine profile characterized by a significant increase in serum levels of IL-5. This immune response may be important for understanding the pathophysiological mechanisms by which this pathogen contributes to the development of wheeze-related symptoms, and for identifying new treatment strategies