Calcium, phosphorus, and vitamin D levels in a series of cystic fibrosis patients: a cross-sectional study

Producción CientíficaCystic fibrosis (CF) is a monogenic disease with different types of mutations that mainly affect the respiratory-digestive system. Calcium (Ca), phosphorus (P), and vitamin D (Vit-D) are essential nutrients for maintaining adequate growth and development, as well as key components in crucial metabolic pathways. Proper diagnosis, treatment, and response are decisive components of precision medicine. Therefore, we conducted a cross-sectional study to evaluate Ca, P, and Vit-D levels along with health and nutritional indicators, regarding their non-skeletal functions, in a series of CF patients. Anthropometric and clinical evaluation, biochemical analysis, dietary survey, and respiratory and pancreatic status were performed. Even though the results showed that all patients had normal dietary and serum Ca levels, 47% of patients had deficient Vit-D intake, 53% of patients had hypovitaminosis D, 35% had insufficient Vit-D levels, 18% had hypophosphatemia, 76% had elevated alkaline phosphate levels, 29% had hypercalciuria, and 65% had hyperphosphaturia. There were no significant differences between homozygous and compound heterozygous patients. Ca, P, and Vit-D levels were associated with body mass index; body composition; physical activity; diet; growth hormones; and the immune, liver, and kidney systems. We suggest a periodically evaluation of Ca and P losses

Fatal respiratory failure in a term newborn due to non-previously described compound heterozygous ABCA3 mutations

The adenosine triphosphate binding cassette member A3 (ABCA3) is a lipid transporter involved in pulmonary surfactant biogenesis. ABCA3 deficiency is increasingly being recognized as a cause of respiratory distress syndrome in term neonates. The clinical spectrum and severity of lung disease caused by ABCA3 mutations vary widely. We present a term newborn who presented respiratory distress short afterbirth. Despite treatment and supportive care, she developed a refractory progressive hypoxic respiratory failure and she died. She received repeated surfactant doses always with transient improvement. She was found to be a compound heterozygote for 2 non-previously described ABCA3 gene mutations, one inherited from each parent

Magnesium Status and Calcium-Magnesium Ratios in a series of Cystic Fibrosis Patients

Producción CientíficaAbstract: Magnesium (Mg) is an essential micronutrient that participates in various enzymatic reactions that regulate vital biological functions. The main aim was to assess the Mg status and its association with nutritional indicators in seventeen cystic fibrosis (CF) patients. The serum Mg and calcium (Ca) levels were determined using standardized methods and the dietary Mg intake by prospective 72 h dietary surveys. The mean serum Ca (2.45 mmol/L) and Mg (0.82 mmol/L) had normal levels, and the mean dietary intake of the Ca (127% DRI: Dietary Reference Intake) and Mg (125% DRI) were high. No patients had an abnormal serum Ca. A total of 47% of the subjects had hypomagnesemia and 12% insufficient Mg consumption. One patient had a serum Mg deficiency and inadequate Mg intake. A total of 47 and 82% of our series had a high serum Ca/Mg ratio of >4.70 (mean 4.89) and a low Ca/Mg intake ratio of <1.70 (mean 1.10), respectively. The likelihood of a high Ca/Mg ratio was 49 times higher in patients with a serum Mg deficiency than in normal serum Mg patients. Both Ca/Mg ratios were associated with the risk of developing cardiovascular disease (CVD), type 2 diabetes (T2D), metabolic syndrome (MetS), and even several cancers. Therefore, 53% of the CF patients were at high risk of a Mg deficiency and developing other chronic diseases

Down syndrome as risk factor for respiratory syncytial virus hospitalization : A prospective multicenter epidemiological study

Respiratory syncytial virus (RSV) infection in childhood, particularly in premature infants, is associated with significant morbidity and mortality. To compare the hospitalization rates due to RSV infection and severity of disease between infants with and without Down syndrome (DS) born at term and without other associated risk factors for severe RSV infection. In a prospective multicentre epidemiological study, 93 infants were included in the DS cohort and 68 matched by sex and data of birth (±1 week) and were followed up to 1 year of age and during a complete RSV season. The hospitalization rate for all acute respiratory infection was significantly higher in the DS cohort than in the non-DS cohort (44.1% vs 7.7%, P<.0001). Hospitalizations due to RSV were significantly more frequent in the DH cohort than in the non-DS cohort (9.7% vs 1.5%, P=.03). RSV prophylaxis was recorded in 33 (35.5%) infants with DS. The rate of hospitalization according to presence or absence of RSV immunoprophylaxis was 3.0% vs 15%, respectively. Infants with DS showed a higher rate of hospitalization due to acute lower respiratory tract infection and RSV infection compared to non-DS infants. Including DS infants in recommendations for immunoprophylaxis of RSV disease should be considered