ABSTRACT
CONTEXT: In 2012, The North American Cystic Fibrosis Foundation (NACFF) published new guidelines for the treatment of vitamin D deficiency in individuals with cystic fibrosis (CF). OBJECTIVE: The objectives of our study were to assess the efficacy of these guidelines, and to test the effect of increasing vitamin D dosage on pulmonary function and exacerbations. DESIGN: Pulmonary function tests and serum concentrations of 25-hydroxyvitamin D [25(OH)D] were measured 1 year before increasing vitamin D dosage according to the guidelines and at least 1 year later. In addition, days of hospitalization and pulmonary exacerbations were counted and an average per year (average number of days of hospitalization and average number of pulmonary exacerbations [PEA], respectively) was calculated. SETTING AND PARTICIPANTS: A total of 90 patients from The Cystic Fibrosis Clinic at Hadassah Mount-Scopus Hospital, Jerusalem, Israel. RESULTS: The mean serum concentration of vitamin D increased significantly from 20.97âng/mL (52.34ânmol/L) at baseline to 25.41âng/mL (63.42ânmol/L) at the end of follow-up (Pâ<â0.001). The number of PEA decreased significantly from 2.79â±â3.96 to 2.15â±â2.91 (Pâ=â0.007). The change in vitamin D levels was correlated with a decrease in PEA (correlation coefficientâ=â-0.318, Pâ=â0.002). CONCLUSIONS: The NACFF guidelines for management of vitamin D deficiency improve vitamin D levels in patients with CF but did not reach the normal values in most patients. The increase in vitamin D serum levels was, however, associated with a decrease in number of pulmonary exacerbations.
Subject(s)
Cystic Fibrosis/blood , Dietary Supplements , Disease Progression , Vitamin D Deficiency/therapy , Vitamin D/analogs & derivatives , Adolescent , Child , Child, Preschool , Cystic Fibrosis/complications , Cystic Fibrosis/physiopathology , Dietary Supplements/standards , Female , Follow-Up Studies , Humans , Infant , Length of Stay/statistics & numerical data , Lung/physiopathology , Male , Practice Guidelines as Topic , Respiratory Function Tests , Treatment Outcome , Vitamin D/administration & dosage , Vitamin D/blood , Vitamin D/standards , Vitamin D Deficiency/etiology , Vitamin D Deficiency/physiopathology , Vitamins/administration & dosage , Vitamins/standardsABSTRACT
BACKGROUND: Population carrier screening (PCS) has been available in Israel since 1999 and universally subsidized since 2008. We sought to evaluate its impact. METHODS: A retrospective review of governmental databanks, the national CF registry and CF centers. RESULTS: CF rate per 100,000 live births has decreased from 14.5 in 1990 to 6 in 2011. From 2004-2011 there were 95 CF births: 22 utilized PCS; 68 (72%) had 2 known CFTR mutations; 37% were pancreatic sufficient. At diagnosis, age was 6 (0-98) months; 53/95 had respiratory symptoms, 41/95 failure to thrive and 19/95 pseudomonas. Thirty-four (36%) were Arabs and 19 (20%) orthodox Jews, compared to 20% and 8% respectively, in the general population. CONCLUSIONS: PCS markedly reduced CF birth rates with a shift towards milder mutations, but was often avoided for cultural reasons. As children regularly have significant disease at diagnosis, we suggest a balanced approach, utilizing both PCS and newborn screening.
Subject(s)
Cystic Fibrosis , Neonatal Screening , Prenatal Diagnosis , Adult , Birth Rate , Cystic Fibrosis/diagnosis , Cystic Fibrosis/ethnology , Cystic Fibrosis/genetics , Cystic Fibrosis Transmembrane Conductance Regulator/genetics , Family Health , Female , Genetic Carrier Screening/methods , Genetic Carrier Screening/statistics & numerical data , Genetic Counseling/organization & administration , Humans , Infant , Infant, Newborn , Israel/epidemiology , Male , Mutation , National Health Programs/statistics & numerical data , Neonatal Screening/methods , Neonatal Screening/trends , Pregnancy , Prenatal Diagnosis/methods , Prenatal Diagnosis/trends , Risk Assessment/methodsABSTRACT
OBJECTIVES: Patients with cystic fibrosis (CF) presenting with meconium ileus (MI) tend to have worse outcomes than those without MI. We evaluated the clinical characteristics and survival rates among Israeli patients with CF with and without MI after a prolonged follow-up (15-30 years). PATIENTS AND METHODS: A multicenter retrospective study. Forty-nine patients with CF, representing 13.8% of all patients with CF in Israel, presented with MI (current age 17.4 +/- 7.9 years) between 1975 and 2006. They were compared with 38 patients with CF (current age 19.3 +/- 6.5 years) without MI matched by sex and CF transmembrane conductance regulator mutation. RESULTS: A total of 66.2% of patients with MI and 73.6% without MI were followed for a prolonged period (24.9 +/- 2.7 years). Of the patients with MI, 31 were managed operatively, whereas 18 were treated successfully with gastrograffin enema, with similar clinical outcomes. Five patients in the MI group and 3 in the control group died during the study period. Bacterial colonization, z score of body mass index, and pulmonary function tests were similar in patients with and without MI in the long term. In younger patients, many clinical parameters were more prevalent in patients with MI (P = 0.004). However, these differences disappeared after the long-term follow-up (up to 31-years). CONCLUSIONS: Patients with CF presenting with MI had similar pulmonary function and nutritional status, as well as survival rates as did the control patients without MI. The distinct genetic mutation found in our population may explain in part the favorable results compared with other studies. In addition, it seems that early diagnosis and treatment of MI in patients with CF may be beneficial, subsequently lowering morbidity, and increasing survival.
Subject(s)
Cystic Fibrosis/complications , Ileus/complications , Meconium , Adolescent , Adult , Age Factors , Body Mass Index , Child , Cystic Fibrosis/mortality , Cystic Fibrosis/therapy , Diatrizoate Meglumine/therapeutic use , Disease Progression , Enema , Female , Humans , Ileus/therapy , Infant , Israel , Lung , Male , Respiratory Function Tests , Retrospective Studies , Risk Factors , Survival Analysis , Treatment Outcome , Young AdultABSTRACT
BACKGROUND: Increased levels of oxidative stress result in pulmonary damage contributing to the development of chronic lung disease in cystic fibrosis (CF). The aim of this study was to investigate the longitudinal effect of serum vitamin A and E levels on the incidence of pulmonary exacerbations in pancreatic insufficient (PI) and pancreatic sufficient (PS) patients with CF. MATERIALS AND METHODS: Patient records were retrospectively examined over a 3-year period and serum vitamin A and E levels were retrieved. Subsequently, levels of vitamin A and E were prospectively measured over a 2-year period at the onset of intravenous antibiotic therapy for acute exacerbation and at the first recovery visit. RESULTS: Retrospectively, 597 pulmonary exacerbations were identified in 102 patients, 74 PI and 28 PS, with a mean age of 11.1 +/- 6.4 years (range, 1.5-27 y). An increased number of exacerbations was directly correlated with lower vitamin A and E levels, even within the normal range. Prospectively, 62 exacerbations were analyzed (43 PI patients and 19 PS patients). At onset of exacerbation, vitamin A and E levels were reduced in the PI patients (P < 0.001; P < 0.001) and the PS patients (P < 0.005; P < 0.07). CONCLUSIONS: Reduced serum levels of vitamin A and E even in the normal range are associated with an increased rate of pulmonary exacerbations in CF. Further studies are required to confirm the necessity of supplementation of vitamins A and E to PS patients.