Cystic Fibrosis 8/23/2014 GROWTH DEFICIENCY IN CYSTIC FIBROSIS IS
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1 8/23/214 GROWTH DEFICIENCY IN CYSTIC FIBROSIS IS OBSERVABLE AT BIRTH AND PREDICTIVE OF EARLY PULMONARY FUNCTION by Rebecca Joan Nelson Case Western Reserve University Cleveland, Ohio Thesis Advisor: Rebecca Darrah, MS, PhD Committee Members: Craig Hodges, PhD Anne Matthews, RN, PhD Conflict of Interest Disclosures In relation to this presentation, I declare that there are no conflicts of interest. Cystic Fibrosis Autosomal recessive genetic disease 1:3,5 Caucasian births and an estimated 3, people in the United States. Average lifespan of a patient with CF to 37.8 years. 1
2 8/23/214 CFTR Caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR) 7q31.2, and is composed of 27 exons spanning approximately 25 kb 86.7% of patients have one or two F58 mutations Phenotypic Manifestations in CF Multi-organ disease Nose Esophagus Heart Lungs Liver Gallbladder Intestinal tract Lungs Spleen Stomach Pancreas Reproductive tracts Bone Sweat glands Respiratory Digestive Growth Deficiency Growth Deficiency in CF Cystic Fibrosis Foundation Patient Report, 212 2
3 8/23/214 Growth Deficiency in CF Lower caloric intake Higher energy expenditure Malabsorbtion Haller et al., 214 Babies with CF are Significantly Smaller at Birth Study in Tuscany, Italy On average g (8.7 oz) lighter (P=.3) Full term: 25.7 g (7.25 oz) lighter (P=.2) Weight at Age 4 Correlates with Pulmonary Function in CF Weight percentile at age 4 Yen, Quinton, and Borowitz (212) 3
4 8/23/214 Research Question Correlation between growth and pulmonary function in patients with CF Growth deficiency in CF has been observed at birth Is there a correlation between birth weight and the severity of medical complications associated with cystic fibrosis? Aim 1 Determine the mean birth weights of patients with CF and compare these birth weights to national averages matched for gender Babies with CF Weigh Significantly Less than the National Averages Cystic Fibrosis National Average Males p<.1 n=4 Sex Females p=.1 n=39 4
5 8/23/214 Birth Weight Does Not Differ by Gender Males (n=4) Females (n=39) Sex 1 p=.28 Birth Weight in CF Does Not Differ by Year of Birth Age (years) ANOVA: p=.424 Birth Weight in CF Does Not Differ by Genotype F58 Homozygous (n=48) F58 Heterozygous (n=31) Genotype 1 p=.24 5
6 8/23/214 Birth Weight in CF Does Not Differ By Presence of Meconium Ileus Yes MI (n=28) No No (n=51) MI (n=51) Meconium 1 Ileus p=.7 Summary of Findings Patients with CF have significantly lower birth weights than the national average, matched for gender Gender, age, genotype, and presence of MI do not contribute to any significant difference in birth weight Aim 2 Determine if there is a correlation between birth weight and variability of clinical phenotype of patients with CF 6
7 FEV1% at age 1 FEV1% at age 6 8/23/214 FEV 1 % and Birth Weight Birth Weight in CF Contributes to 8% of the Variance of Pulmonary Function at Age b=.1 R 2 =.8 p= Birth Weight in CF Contributes to 7% of the Variance of Pulmonary Function at Age b=.1 R 2 =.7 p=.5 7
8 FEV1% at age 15 FEV1% FEV1% FEV1% at age 2 FEV1% FEV1% 8/23/214 Birth Weight is not Correlated with FEV 1 % at age n=45 p=.93 Birth Weight is not Correlated with FEV 1 % at age n=17, p=.683 Overall FEV 1 % by age 15 Age Age Age Age
9 %IBW %IBW %IBW 8/23/214 Summary Slide Growth deficiency in CF is observable at birth Gender, year of birth, genotype, and MI are not associated with birth weight in patients with CF Birth weight is associated with pulmonary function at age 6, and trends towards association at age 1 No association is observed at ages 15 and 2 Percent Ideal Body Weight Actual (present) weight IBW X = %IBW Nutritional Status %IBW Morbidly obese 2 Obese Overweight Normal 9-19 Mild malnutrition 8-89 Moderate malnutrition 7-79 Severe malnutrition 7 Original %IBW over the ages b=.1, R 2 =.7, p= Age 6 Age 1 b=.1, R 2 =.6, p=.6 Age n=45, p=.16 9
10 %IBW %IBW %IBW 8/23/214 Summary Slide Growth deficiency in CF is observable at birth Gender, year of birth, genotype, and MI are not associated with birth weight in patients with CF Birth weight is associated with FEV 1 % at ages 6 and 1, but not at age 15 and 2 Birth weight trends towards association with %IBW at ages 6 and 1 No association is observed at ages 15 Meconium Ileus and %IBW in CF MI No MI MI (n=28) No MI (n=3) p=.3 MI (n=24) No MI (n=35) p=.22 Age (years) MI (n=14) No MI (n=31) p=.8 Birth Weight is Only Associated With %IBW at Age 6 in Patients Born Without MI With Meconium Ileus Without Meconium Ileus R 2 =.4, p=.74, n=28 R 2 =.229, p<.1, n=3 1
11 %IBW %IBW %IBW %IBW 8/23/214 Birth Weight Only Trends Towards Association With %IBW at Age 1 in Patients Born Without MI With Meconium Ileus Without Meconium Ileus R 2 =.39, p=.37, n=24 R 2 =.16, p=.6, n=35 Birth Weight Only Trends Towards Association With %IBW at Age 15 in Patients Born Without MI With Meconium Ileus Without Meconium Ileus R 2 =.19, p=.64, n=14 R 2 =.16, p=.8, n=31 Summary Slide Growth deficiency in CF is observable at birth Gender, year of birth, genotype, and MI are not associated with birth weight in patients with CF Birth weight is associated with FEV 1 % at ages 6 and 1, but not at age 15 and 2 In Birth patients weight born trends without towards MI, birth association weight with is %IBW associated at ages 6 and with 1 %IBW at age 6 and trends towards association at ages 1 and 15 No association is observed at ages 15 11
12 8/23/214 No Difference in the Birth Weights of Patients With And Without Pseudomonas Colonization Colonization under age 9 (n=26) Over 1 years old, no colonization (n=22) Colonization Status p=.93 No Difference in Birth Weight of Patients with CFRD and Adult Patients Without CFRD No CFRD (n=16) CFRD (n=15) CFRD Status 1 p=.13 In Patients With CFRD, Birth Weight Contributes to 26% of the Variability in Age of CFRD Diagnosis Age at CFRD diagnosis R 2 =.26, p=.4. 12
13 8/23/214 Summary Slide Growth deficiency in CF is observable at birth Gender, year of birth, genotype, and MI are not associated with birth weight in patients with CF Birth weight is associated with FEV 1 % at ages 6 and 1, but not at age 15 and 2 In patients born without MI, birth weight is associated with %IBW at age 6 and trends towards association at ages 1 and 15 Age of Pseudomonas colonization is not associated with birth weight in patients with CF No difference between birth weights of patients with CFRD and adult patients without CFRD In patients with CFRD, birth weight is positively correlated with age of CFRD diagnosis Conclusions: Aim 1 Growth deficiency in patients with CF is observable at birth Males were 29.4 g (1.24 oz) lighter than national average Females were g (9.4 oz) lighter than the national average No significant difference between sex, genotype, current age, meconium ileus Growth Deficiency in CF Lower caloric intake Higher energy expenditure Malabsorbtion Haller et al.,
14 8/23/214 Conclusions Aim 2 Early pulmonary function is correlated with birth weight As patients age, additional factors become more important than birth weight In patients born without MI, nutritional status is correlated with birth weight Before newborn screening, patients without MI may not have been diagnosed with CF at birth may have not received early treatments Patients with MI receive more aggressive nutritional treatment early on in life Conclusions Aim 2 Additional morbidities of CF Pseudomonas colonization No difference between birth weight and those with early colonization vs those with no colonization. CFRD No difference between birth weights of those with CFRD and adults without CFRD. In patients with CFRD, birth weight is positively correlated with age of CFRD diagnosis Clinical Implications Growth deficiency Additional factors may be causing growth deficiency prenatally, could they also cause growth deficiency in childhood and adulthood? Birth weight is the first indicator of pulmonary function in early childhood Early CF diagnosis or early nutritional intervention influence nutritional status 14
15 8/23/214 Significance for Genetic Counseling Birth weight as an early predictor for pulmonary function and nutritional status. Early intervention (pre or postnatally) Increase the specificity of NBS by including birth weight into the calculation Birth weight is not the be all end all Encourage patients, parents, and clinicians to focus on increasing the patient s weight. Limitations Self-reported birth weights Response bias Young study population Patients who have more serious complications were more likely to be seen in the CFC Small population Retrospective cross-sectional study design Future Directions Future research into the cause of low birth weight Placental function Looking at growth hormones in fetuses with CF Larger study population with older patients Use of birth weight as an indicator of early aggressive treatment Correlation between birth weight and %IBW in a population without an early diagnosis bias for patients with MI 15
16 8/23/214 Acknowledgements Committee Chair Becky Darrah Committee Members Craig Hodges Anne Matthews Cystic Fibrosis Center at Rainbow Babies and Children s Hospital Jay Hilliard Elliott Dasenbrook Ellen Divoky Staff of the CFC Statistics Kevin Cavanagh Questions? 16
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