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 Diarrhea started 4 weeks ago, green, watery, non
bloody, (+) mucus x4/day
x2-3/day vomiting after feeds for about 3-4 weeks
No fever
Recently less active, sleepy but sometimes irritable
No URI symptoms
Decrease UOP (last 5 days x1 wet diaper/day but
mother does not know if he passes urine with
No travel hx or sick contacts
 Chronic or persistent diarrhea is defined as an
episode that lasts longer than 14 days
 Mechanism:
Osmotic diarrhea (common in children)
Secretory diarrhea
Motility disturbances
 Vomiting and diarrhea are common in infants and
are most often infectious. If persists >1 week,
intolerance of formula or some other protein should
be suspected Diet history
Formula intolerance
Mucosal injury
Increase permeability
Exacerbated formula intolerance
Malabsorption, poor intake
 Diet: Breast milk only every 3 hours for 20 mins, no
change in appetite
 PMH:
 BH FT, NSVD, Apgars: 9/9, no NICU BW: 2560 g
 No similar problems before, no medical problems
 No surgery or hospitalizations
 FH: 22 y/o Mother & Father, healthy, no
consanguinity, no previous pregnancy
 SH: First and only child lives with parents
 Looks pale and tired
 T: 37.6, HR: 158, RR: 38, BP: 90/45, sO2: 97%
 Wt: 3200 (<3 pc), Ht: 55 cm (3-10 pc), HC: 38 cm ( <3 pc)
 HEENT: NCAT, depressed anterior fontanel, sunken eyes,
dry mucous membranes, dry lips, op wnl, Tms wnl, no LAPs
Lungs: B/L equal air entry, no w/r/r
Heart: (+) S1, S2, no M
Abd: Distended, (+) BS, NTND, 3 cm palpable liver, no SM
Ext: Cap refill =4-5 sec, B/L weak pulses , 2+ pretibial edema
Genital: Tanner stage I male, testes b/l in scrotum
Skin: No rash, delayed turgor-tonus
Neuro: Alert, able to hold his head when prone, no
lateralizations, DTRs b/l equal, moro (++/++), grasping
 GI:
 Formula protein
 Intractable diarrhea-like
 Malabsorption Syndromes
 Cystic fibrosis
 Shwachman-Diamond
Disorders of liver and biliary
Congenital lactase deficiency
Sucrase-isomaltase deficiency
Intestinal enterokinase
Short bowel syndrome
Hirsprung disease
Autoimmun entheropathy
Acquired lactose intolerance
 Infectious:
 Giardiasis
 Protracted viral enteritis
 Intestinal protozoal diseases
 Systemic:
 Crohn’s disease
 Hyperthyroidism
 Immune deficiencies ( IgA
 CBC: 16.1 > 7.1/ 21 < 70, retic: 1%
 Periferal smear: 58 % PMNL, 40% L, 2% M
 U/A: pH: 5, SG: 1021, (+) bil, rare leucocytes
 BMP: 129/4.9, 101/17, 4/0.12, 128/9.28, PO4: 4.83
 LFT: 3.67/2.01, 95/67, 309/439, 3.22/2.29
 PT: 15.4, INR: 2, APTT: 45
 Stool guiac (-)
 Stool cx Pending, stool parasitis Pending
 Blood cxPending
 Vitamin A, D, E & K blood levelsPending
 Ig A, M, G levels Pending
 IVF, Vitamin K, FFP, RBC transfusions
 Sulbactam-Ampicillin + Amikacin
 2nd day : T: 38.3, dry cough CXR: hyperinflation, no
Stool pH: 6, reducing substance (-), stool Fat (-)
Stool cx (-), stool parasitis x3 (-), Blood cx(-)
Stool guiac x3  (-)
Low vitamin A & E blood levels
Ig A, M, G levels wnl
Increase LFTs
? Cystic Fibrosis
Sweat test: 97 mEq/l
 The most common lethal inherited disease in the
An autosomal recessive disorder
A disease of exocrine gland function that involves
multiple organ systems
Chronic respiratory infections, pancreatic enzyme
insufficiency and associated complications
Median survival age-36.9 years
Mutations in the CFTR gene
Protein (Cl channel-CAMP)
Decrease secretion of Cl + increase reabsorb of Na&water
across the epithelial cells
Increased viscosity of secretions makes them difficult to
clear (respiratory tract, pancreas, GI tract, sweat glands
and other exocrine tissues)
 Most fatalities associated with progressive lung disease
 The lungs are normal in utero, at birth, and after birth, before the
 Shortly after birth, many patients acquire a lung infection
(Haemophilus influenzae, Staphylococcus aureus, P aeruginosa,
Burkholderia cepacia, Escherichia coli, and Klebsiella pneumoniae)
 Clinical picture:
 Chronic or recurrent cough
 Prolonged symptoms of bronchiolitis occur in infants
 Posttussive vomiting episodes
 Recurrent wheezing
 Recurrent pneumonia
 Atypical asthma
 Pneumothorax
 Hemoptysis
 Digital clubbing
 Dyspnea on exertion
 History of chest pain
 Recurrent sinusitis
 Nasal polyps
 Intestinal
 Neonates:
Infants may present with intestinal obstruction at birth
Meconium ileus (7-10%)
Intestinal atresia
Meconium peritonitis
Passage of meconium may be delayed (>24-48 h after
 Cholestatic jaundice may be prolonged
 Infants and children:
 Increased frequency of stools
 Malabsorption (ie, fat in stools, oil drops in stools)
 Failure to thrive
 Intussusception (ileocecal)
 Rectal prolapse
 Pancreatic
 Pancreatic insufficiency (PI)
 Fat-soluble vitamin deficiency
 Malabsorption of fats, proteins, and carbohydrates (Steatorrhea,
frequent, poorly formed, large, bulky, foul-smelling, greasy stools
that float in water)
 Failure to thrive (despite an adequate appetite)
 Foul-smelling flatus
 Recurrent abdominal pain
 Abdominal distention
 Many infants have symptoms of gastroesophageal reflux
 Hepatobiliary
 Gallstones
 Jaundice
 Hepatosteatosis, obstructive cirrhosis
 Gastrointestinal tract bleeding
 Males are frequently sterile because of the
absence of the vas deferens
 Undescended testicles
 Hydrocele
 Fertility is maintained, although possibly
decreased, in females
 Secondary sexual development is often
 Amenorrhea may occur in patients with severe
nutritional or pulmonary involvement
 Sweat test
 The quantitative pilocarpine iontophoresis test (QPIT) to
collect sweat and perform a chemical analysis of its
chloride content
 >60 mmol/L of chloride in the sweat
 Repeat
 False (+) results
 Genetic test (>1600 CF mutations, ΔF508)
 Neonatal screening: Rely on testing for immunoreactive
trypsinogen (IRT). The presence of high levels of IRT, a
pancreatic protein typically elevated in infants with cystic
fibrosis. If (+), repeat IRT testing, DNA testing, or both.
 CXR: Hyperinflation, peribronchial thickening,
bronchiectasis , pulmonary nodules resulting from
abscesses, infiltrates, atelectasis, flattenned domes
of the diaphragm, thoracic kyphosis, and bowing of
the sternum, pulmonary artery dilatation and right
ventricular hypertrophy associated with cor
pulmonale. Several radiologic scoring systems are
 Sinus Radiography: Panopacification of the sinuses
is present in almost all patients with cystic fibrosis
(high sensitivity and specificity)
 Pulmonary function testing (PFT)
 Obstructive changes in the beginning
 Restrictive changes
 Semen analysis
 Obstructive azospermi
 Bronchoalveolar lavage
 Sputum microbiology
 Controlling respiratory infection, clearing airways of
mucous, administering nutritional therapy (ie,
enzyme supplements, multivitamin and mineral
supplements) to maintain adequate growth, and
managing complications
Multidisciplinary care
Patient/parent education, including counseling
A high-energy and high-fat diet, in addition to vitamin
(especially fat soluble) and mineral supplementation
Upper body exercises, such as canoe paddling, may
increase respiratory muscle endurance
 Pancrelipase (Creon, Pancrease, Ultrase, Viokase)
Enteric-coated pancreatic enzyme microspheres
containing various amounts of lipase, protease, and
amylase. Assists in digestion of protein, starch, and fat
Vitamins A, D, E, and K
Agents to treat associated conditions or complications
(eg, insulin)
Mucolytic agents (Dornase alfa)
 Cephalosporins-H. inf, Staph. Aureus, Pseu. Aureginosa
 Flouroquinolones-P. aureginosa
 Aerosolized form (eg, gentamicin, colistin, tobramycin)
 Every 2-3 months to achieve the following goals:
 Maintenance of growth and development
 Maintenance of as nearly normal lung function as
Appropriate use of antibiotics, bronchodilators, and
airway clearance techniques
Clinical assessment to monitor gastrointestinal tract
involvement and presence of malabsorption and to
provide enzyme and nutrition supplementation
Monitoring for complications and their treatment
Addressing psychosocial issues
 Nasal polyps
 Chronic and persistent
sinusitis with complications
such as mucopyocele
Hypertrophic pulmonary
Allergic bronchopulmonary
aspergillosis (ABPA)
Pulmonary hypertension
Cor pulmonale
End-stage lung disease
 Pancreatitis
 Cystic fibrosis–related
diabetes mellitus
Meconium ileus
Distal intestinal obstruction
Gastroesophagial reflux
Rectal prolapse
Vitamin deficiency (especially
fat-soluble vitamins)
Fatty liver
Focal biliary cirrhosis
Portal hypertension
Liver failure
Cholecystitis and
 Creon 3000 U/kg, multivitamin & minerals, continue
IVF and antibiotics
 Decrease sO2 78-80%
 ABG: pH: 7.28, pCO2: 66
 Intubation PICU
 Meropenem & Vancomycin
 8th day of admission Multiple organ failure Death
 Homozygotic ΔF508 mutation (+)
 Genetic counselling
 Full autopsy was done
 Lungs: Macroscopically massive consolidations, intraalveolar
macrophages, mononuclear infectious cell infiltration in the
interstitial tissue, patchy intraalveolar hemorrhage, cx
Stenotrophomonas maltophilia, Acinetobacter lwoffii
Liver: Bigger than regular size (281 g-N: 143 g),
hepatosteatosis, cholestasis, mild mononuclear inflamatuar
cell infiltrations in some portal areas
Spleen: Bigger than regular size (21 g-N:15g), severe
Pancreas: Fibrosis, ductal dilatation, eosinophilic material in
the lumens
Brain: Mild edema
Others: Congestion
 Davis PB, Drumm M, Konstan MW. Cystic fibrosis. Am J Respir Crit
Care Med. Nov 1996;154(5):1229-56.
Collaco JM, Vanscoy L, Bremer L, et al. Interactions between
secondhand smoke and genes that affect cystic fibrosis lung
disease. JAMA. Jan 30 2008;299(4):417-24.
Sharma GD, Doershuk CF, Stern RC. Erosion of the wall of the
frontal sinus caused by mucopyocele in cystic fibrosis. J
Pediatr. May 1994;124(5 Pt 1):745-7.
Bruno MJ, Haverkort EB, Tytgat GN, van Leeuwen DJ. Maldigestion
associated with exocrine pancreatic insufficiency: implications of
gastrointestinal physiology and properties of enzyme preparations for
a cause-related and patient-tailored treatment. Am J
Gastroenterol. Sep 1995;90(9):1383-93.
LeGrys VA, Yankaskas JR, Quittell LM, Marshall BC, Mogayzel PJ
Jr. Diagnostic sweat testing: the Cystic Fibrosis Foundation
guidelines. J Pediatr. Jul 2007;151(1):85-9.
 [Guideline] Comeau AM, Accurso FJ, White TB, et al. Guidelines for
implementation of cystic fibrosis newborn screening programs: Cystic
Fibrosis Foundation workshop
report. Pediatrics. Feb 2007;119(2):e495-518.
 Goulet O, Ruemmele F. Causes and management of intestinal failure
in children. Gastroenterology. 2006;130 (2 Suppl 1):S16-28.
 Ren CL, Brucker JL, Rovitelli AK, Bordeaux KA. Changes in lung
function measured by spirometry and the forced oscillation technique
in cystic fibrosis patients undergoing treatment for respiratory tract
exacerbation. Pediatr Pulmonol. Apr 2006;41(4):345-9.
 [Best Evidence] Moran A, Pekow P, Grover P, et al. Insulin therapy to
improve BMI in cystic fibrosis-related diabetes without fasting
hyperglycemia: results of the cystic fibrosis related diabetes therapy
trial. Diabetes Care. Oct 2009;32(10):1783-8.