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March 7, 2015 Jacquelyn M Zirbes, DNP CF or CRMS What is the Difference ?

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Presentation on theme: "March 7, 2015 Jacquelyn M Zirbes, DNP CF or CRMS What is the Difference ?"— Presentation transcript:

1 March 7, 2015 Jacquelyn M Zirbes, DNP CF or CRMS What is the Difference ?

2  Clinical disease  Sweat Chloride > 60 mmol/L *  Or Intermediate Range of 40-59mmol/L  And 2 CFTR Gene Mutations identified Adult Diagnosis

3  Allergic bronchopulmonary aspergillosis  Chronic pansinusitis or nasal polyposis  Bronchiectasis  Haemoptysis  Idiopathic recurrent pancreatitis  Portal hypertension  Delayed puberty  Azoospermia secondary to congenital bilateral absence of the vas deferens Cystic Fibrosis in the Adult/Adolescent

4  Chronic Sinopulmonary Disease  Characteristic GI abnormalities  Nutritional Abnormalities  Salt Loss  Male Genital abnormalities resulting a azoospermia Classic CF Characteristics

5 Sinus Disease

6 Health Lung CF Lung Disease

7 Gastrointestinal Abnormalities

8 Nutritional Needs

9 Male Azoospermia

10 The Younger Age Group

11  Infancy  Chest xray  FTT  Low Protein  Chronic Diarrhea  ABD Distension  Cholestasis  S.a. Pneumonia  Vit A & E deficiency Classic Signs and Symptoms  Neonatal  Meconium ileus  Protracted jaundice  Abdominal  Intestinal atresia

12  CRMS=  CFTR-Related Metabolic Syndrome=  Cystic Fibrosis Transmembrane Conductance Regulator Protein Related Metabolic Disorder The Word: The Initials

13  Older individuals with sweat chloride < 60 and combination of mutations have been characterized as ‘‘atypical CF,’’ ‘‘non- classical CF,’’ ‘‘CFTR-related disorders,’’ ‘‘low-risk genotype,’’ or ‘‘mild variant CF,’’  But the adults now present for diagnostic evaluation because of signs or symptoms, whereas infants identified by CF NBS are symptom free. The Adult

14

15  High IRT on NBS  Sweat chloride values <60 mmol/L And  Up to 2 CFTR mutations, at least 1 of which is not clearly categorized as a “CF disease causing mutation”  No multi-organ symptoms of cystic fibrosis  Does not imply CF is present at this time What is CRMS

16 Newborn Screening

17 CRMS and NBS Step 1: IRT testing NBS State Laboratories < 98.4%ile Screen Negative ≥ 98.4%ile High IRT Step 2: CFTR mutation testing at Stanford University (40 mutations panel) No mutations Screen Negative 2 mutations Screen Positive 1 mutation Indeterminate Step 4:Referral to CF Center Step 3: DNA Scanning and Focused sequencing Stanford University 2 mutations/variants Screen Positive 1 mutation Carrier Genetic Counseling Services Offered

18 CFTR2 Reference http://www.cftr2.org

19 CFTR and Sweat Chloride Sullivan & Freedman, 2009

20  Milder clinical course than CF  Pancreatic Sufficient  Well nourished, do not require PERT or caloric supplements  CF pseudomonas>CRMS pseudomonas  Some individuals do develop CF disease CRMS in Infants Ren, et. al 2010

21  Genetic concepts and formal counseling  Refer to correct resources  Explain difference between CF and CRMS  Uncertainty of Prognosis  Full Life expectancy  CRMS symptoms DO need to be treated  Baseline and ongoing follow-up with monitoring plan Recommendation CRMS

22  Repeat sweat chloride at 6 months  Symptom free infants twice yearly visits during first year then once yearly.  Oropharyngeal culture with every visit  X-rays if symptomatic– airway clearance if signs  Spirometry when able  Smoke free environment  Influenza vaccine Recommendations Continues

23  High IRT on NBS  Sweat chloride values <60 mmol/L And  Up to 2 CFTR mutations, at least 1 of which is not clearly categorized as a “CF disease causing mutation”  No multi-organ symptoms of cystic fibrosis  Does not imply CF is present at this time Recap of CRMS

24  Phenotype more important than genotype  CFF recommends genetic counselor discussion  Communication with primary care to concurrently provide care  Many infants with CRMS will be healthy during early childhood  Male higher risk of infertility  Benefit from new treatments  Update families as information becomes available  Treat P aeruginosa.  Research biomarkers and identification of genetic modifier to help with more accurate prognosis Consensus

25 References  Borowitz, D., Robinson, K., Rosenfeld, M., Davis, S., Sabadosa, K., Spear, S., Michel, S. Parad, R., White, T., Farrell, P., Marshall, B., Accurso, F. (2009). Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis. Journal of Pediatrics, 155, 6, suppl.4, 73-93.  Borowitz, D., Parad, R., Sharp, J., Sabadosa, K., Robinson, K., Rock, M., Farrell, P., Sontag, M., Rosenfeld, M. Davis, S., Marshall, B., & Accurso, F. (2009). Cystic Fibrosis Foundation Practice Guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond. Journal of Pediatrics: 155: S106-16.  Castellani, C., Cuppens, H., Macek, M. Jr., Cassiman J., Kerem E., Durie, P., et al. (2008) Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. Journal of Cystic Fibrosis: 7: 179-96.  Farrell, P., Rosenstein, B., White, T., Accurso, F., Castellani, C., Cutting G., et al. (2008) Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. Journal of Pediatrics,: 153: S4-14.  Feldmann, D., Couderc, R., Audrezet, M., Ferec, C., Bienvenu, t., Desgeorges, M., et al. (2003) CFTR genotypes in patients with normal or borderline sweat chloride levels. Human Mutation, 22: 340.

26  O’Connor GT, Quinton HB, Kahn R, et al.; ( 2002). Northern New England Cystic Fibrosis Consortium.Case-mix adjustment for evaluation of mortality in cystic fibrosis. Pediatric Pulmonology, ;33(2):99-105.  O’Connor GT, Marshall, B, Quinton H, et al.( 2006). Public Reporting of Cystic Fibrosis Outcomes: Methods for Case-Mix Adjustment [abstract]. Pediatric Pulmonology - Supplement.;29S:119-120.  O’Sullivan, B. & Freedman, S. (2009). Cystic Fibrosis. The Lancet, 373, 1891-1904  Sosnay PR. Siklosi KR. Van Goor F. Kaniecki K. Yu H. Sharma N. Ramalho AS. Amaral MD. Dorfman R. Zielenski J. Masica DL. Karchin R. Millen L. Thomas PJ. Patrinos GP. Corey M. Lewis MH. Rommens JM. Castellani C. Penland CM. Cutting GR. (2013). Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nature Genetics. 45(10):1160-7.  Watts KD, Seshadri R, Sullivan C, McColley, SA. (2009) Increased prevalence of risk factors for morbidity and mortality in the US Hispanic CF population. Pediatric Pulmonology ;44(6):594-601.  Watts, K.& Schechter, M. (2010). Origins of outcome disparities in pediatric respiratory disease. Pediatric Annals, 39: 12, 793-799. doi: 10.3928/00904481- 20101116-10 References continued

27 Charles Mayo, 1913 “The prevention of disease today is one of the most important factors in line of human endeavor.”

28 Many Thanks to Our Families

29 Questions and Discussion


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