CF Is not just CF Cystic Fibrosis - PowerPoint Presentation

Slide1

CF

Is not just

CF

Cystic Fibrosis

CRMS (CF related metabolic syndrome)

CFRD (diabetes)

CFRLD (Liver disease)

PS (pancreatic sufficient)

PI (pancreatic insufficient)

1981 average age: 18

2016 average age: 39 (oldest 86)

Not just a pediatric illness

3000 at the last NACF meeting

Majority of caregivers in adult centers

Role of pediatric team

Diagnosis

Early interventions

Ensure growth

(weight % at age 4 may effect long term prognosis)

Workup drops in weight

Address

sinopulmonary

disease

Address infections aggressively

Early diagnosis

Earliest can be in utero

May need to see before birth

(especially

meconium

ileus

may see surgery before delivery)

Diagnosis

NB screen includes IRT

(all states since 2007)

If IRT abnormal will trigger DNA evaluation

If DNA abnormal will be referred from State Screen to CHOA (SR/EG) depending on zip code

2 mutations, relatively simple and easy to explain

1 mutation still needs referral and likely will have full sequencing

STILL needs SWEAT CL

Should have fecal

elastase

(will be normal by 2 weeks of age)

Mutation essential

Directs discussion and management

Directs meds now and in the future as some are CAN specific

www.cftr2.org

(will give mutation defect and enable one to decide PI

vs

PS, though 90% PI)

CFTR gene mutations

Class I No production of functional G542X, W1282X

Of CFTR protein (10%)

Class2 Trafficking defect (90%) DF508, N1303K

Class 3 deficient channel regulation G551D, G1349D

(5%)

Class 4 altered

Cl

conductance (5%) R334W, R117H

Class 5 reduced CFTR synthesis (<1%) 2789+5 G-A

Class 6 decreased stability 4326DTC

Nutrition

Infants may need 150 cal/kg or more

Regular/standard formula or breast milk

Specialized formulas with

meconium

ileus

if bowel resection

1/8 tsp salt/day

PERT (Pancreatic enzyme replacement therapy)

Creon

(Solvay) 3,000, 6,000, 12,000, 24,000, 36,000 

Zenpep

(

Allergan

) 5,000, 10,000, 15,000, 20,000

Pancreaze

4,200, 16,800, 21,000 (no

phthalein

)

Pertzye

(with added

bicarb

) (like previous

pancrecarb

) 8/16,000

Viokase

10,440 and 20,880

All related to IU of lipase/pill

Only

creon

3000 able to go into the g tube

Relizorb

External lipase cartridges

One cartridge can handle 500cc formula (NO FIBER)

Rate 24cc/hr to 125cc/hr

Not yet approved at CHOA though using at CHOA

Goal is to avoid standard enzymes with drip/night feeds but NO protease/amylase

Samples available and programs to help defray costs

Insurances are approving (though really to date approved for 18yo+)

Abdominal pain

Think DIOS (old

meconium

ileus

equivalent)

Enema alone likely not effective

Typically

ileocecal

Try

miralax

Water soluble

BaE

+/-

mucomyst

If vomiting surgical consult

If DIOS to stay on

miralax

Malabsorption

Inadequate enzymes, remember 1000-2500

iu

/kg/meal or feed) 

Think

concompliance

especially in adolescence

SBBO 

Increased E coli and decreased

bifidobacteria

Can have increased

calprotectin

Can order glucose Br H2 test

Can have high baseline level

Can manage with

miralax

,

probiotics

, ATB

C diff

Chronic ATB use

Celiac, can have more than 1 problem

Gallstones

GER

Can use PPI for absorption and GER

Can’t use PPI with

intraconizole

PPI will increase tacrolimus level

Growth

Expect 50% weight and BMI

Expect normal growth depending on the family

If HT < 10% at age 7 refer to endocrinology

CFTR in

biliary

epithelium

Alternative

Cl

channels in the liver

Height of the enzymes is not related to the degree of liver disease

Bx

:

10-60%

steatosis

11-70% focal

biliary

fibrosis

4-40%

multilobular

cirrhosis

By age 10, 60% will have increased LFTs once, 20% persist

40% adolescence have abnormal liver u/s

5-7% will develop cirrhosis, though typically will develop by 15 years of age

Bile acid loss is 3X normal related to CFTR

If LFTs elevated

If 1.5X normal repeat in a year

If 1.5-2X normal repeat in 3 months

If still

Hep

B/C. alpha 1 antitrypsin, autoimmune, Celiac,

ceruloplasmin

, ultrasound may need to check essential FA and

carnitine

Use of

actigall

still controversial

Liver transplantation used to be thought to improve lung function but this is not the case

Diabetes

OGTT annually starting age 10

Fasting >100 abnormal

2H glucose >140 abnormal

1H glucose >200s abnormal

Need to monitor glucoses some with using night feeds,

esp

in the older child

There is CGM (continuous glucose monitoring) though typically not in the hospital and some insurances won’t cover

Some g-tube fed patients will increase glucoses and need insulin coverage

CFRD typically not

acidotic

CFRD common reason for unexplained weight loss

1981 5% expected to be diabetic (average age 18)

2017 35-40%