March 7, 2015 Jacquelyn M Zirbes, DNP CF or CRMS What is the Difference ?
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Transcript of March 7, 2015 Jacquelyn M Zirbes, DNP CF or CRMS What is the Difference ?
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March 7, 2015
Jacquelyn M Zirbes, DNP
CF or CRMSWhat is the Difference ?
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Clinical disease
Sweat Chloride > 60 mmol/L *
Or Intermediate Range of 40-59mmol/L
And 2 CFTR Gene Mutations identified
Adult Diagnosis
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• 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
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Chronic Sinopulmonary Disease
Characteristic GI abnormalities
Nutritional Abnormalities
Salt Loss
Male Genital abnormalities resulting a azoospermia
Classic CF Characteristics
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Sinus Disease
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Health Lung CF Lung Disease
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Gastrointestinal Abnormalities
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Nutritional Needs
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Male Azoospermia
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The Younger Age Group
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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
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CRMS=
CFTR-Related Metabolic Syndrome=
Cystic Fibrosis Transmembrane Conductance Regulator Protein Related Metabolic Disorder
The Word: The Initials
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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
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The Adult
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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
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Newborn Screening
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CRMS and NBS
Step 1: IRT testingNBS State Laboratories
< 98.4%ileScreen Negative
≥ 98.4%ileHigh IRT
Step 2: CFTR mutationtesting at Stanford University
(40 mutations panel)No mutations
Screen Negative
2 mutationsScreen Positive
1 mutationIndeterminate
Step 4:Referral to CF Center
Step 3: DNA Scanning and Focused sequencingStanford University
2 mutations/variantsScreen Positive
1 mutationCarrier
Genetic CounselingServices Offered
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CFTR2 Reference
http://www.cftr2.org
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CFTR and Sweat Chloride
Sullivan & Freedman, 2009
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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
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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
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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
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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
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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
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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.
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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
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Charles Mayo, 1913
“The prevention of disease today is one of the most important factors in line of human endeavor.”
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Many Thanks to Our Families
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Questions and Discussion