CF or CRMS, What is the Difference?, Jackie Zirbes, RN, PNP

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Transcript CF or CRMS, What is the Difference?, Jackie Zirbes, RN, PNP

March 7, 2015
What is the Difference ?
Jacquelyn M Zirbes, DNP
Adult Diagnosis
 Clinical
 Sweat
 Or
Chloride > 60 mmol/L *
Intermediate Range of 40-59mmol/L
 And
2 CFTR Gene Mutations identified
Cystic Fibrosis in the
• 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
Classic CF Characteristics
 Chronic
Sinopulmonary Disease
 Characteristic
 Nutritional
 Salt
GI abnormalities
 Male
Genital abnormalities resulting a
Sinus Disease
Health Lung
CF Lung Disease
Gastrointestinal Abnormalities
Nutritional Needs
Male Azoospermia
The Younger Age Group
Classic Signs and Symptoms
 Neonatal
 Infancy
 Meconium
Chest xray
Low Protein
 Abdominal
Chronic Diarrhea
 Intestinal
ABD Distension
S.a. Pneumonia
Vit A & E deficiency
 Protracted
The Word: The Initials
 CFTR-Related
 Cystic
Metabolic Syndrome=
Fibrosis Transmembrane
Conductance Regulator Protein Related
Metabolic Disorder
The Adult
 Older
individuals with sweat chloride < 60
and combination of mutations have been
characterized as ‘‘atypical CF,’’ ‘‘nonclassical 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
What is CRMS
 High
 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
Newborn Screening
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
Step 3: DNA Scanning and
Focused sequencing
Stanford University
2 mutations/variants
Screen Positive
Step 4:Referral to CF
1 mutation
Genetic Counseling
Services Offered
CFTR2 Reference
CFTR and Sweat Chloride
Sullivan & Freedman, 2009
CRMS in Infants
 Milder
clinical course than CF
 Pancreatic
 Well
nourished, do not require PERT or
caloric supplements
 CF
pseudomonas>CRMS pseudomonas
 Some
Ren, et. al 2010
individuals do develop CF disease
Recommendation CRMS
 Genetic
 Refer
concepts and formal counseling
to correct resources
 Explain
difference between CF and CRMS
 Uncertainty
 Full
of Prognosis
Life expectancy
symptoms DO need to be treated
 Baseline
and ongoing follow-up with
monitoring plan
Recommendations Continues
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
Recap of CRMS
 High
 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
Phenotype more important than genotype
CFF recommends genetic counselor discussion
Communication with primary care to concurrently provide
Many infants with CRMS will be healthy during early
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
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.
References continued
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: 10.3928/0090448120101116-10
“The prevention of disease today is one of
the most important factors in line of
human endeavor.”
Charles Mayo, 1913
Many Thanks to Our Families
Questions and Discussion