DUYGU UNKARACALAR, PGY-1 02/03/2010. Diarrhea started 4 weeks ago, green, watery, non- bloody, (+)...
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Transcript of DUYGU UNKARACALAR, PGY-1 02/03/2010. Diarrhea started 4 weeks ago, green, watery, non- bloody, (+)...
DUYGU UNKARACALAR, PGY-1
02/03/2010
Diarrhea started 4 weeks ago, green, watery, non-bloody, (+) mucus x4/day
x2-3/day vomiting after feeds for about 3-4 weeksNo feverRecently less active, sleepy but sometimes irritableNo URI symptomsDecrease UOP (last 5 days x1 wet diaper/day but
mother does not know if he passes urine with diarrhea)
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 diarrheaMotility disturbancesInflammatory
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
Infection Formula intolerance
Mucosal injury
Increase permeability
Further Exacerbated formula intolerance
mucosal injury
Malabsorption, poor intake
Malnutrition
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 gNo similar problems before, no medical problemsNo surgery or hospitalizationsNKDA, UTD
FH: 22 y/o Mother & Father, healthy, no consanguinity, no previous pregnancy
SH: First and only child lives with parents
Looks pale and tiredT: 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 LAPsLungs: B/L equal air entry, no w/r/rHeart: (+) S1, S2, no MAbd: Distended, (+) BS, NTND, 3 cm palpable liver, no SMExt: Cap refill =4-5 sec, B/L weak pulses , 2+ pretibial edemaGenital: Tanner stage I male, testes b/l in scrotumSkin: 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
intolerance/allergy Intractable diarrhea-like
syndrome Malabsorption Syndromes
Cystic fibrosis Shwachman-Diamond
Syndrome Disorders of liver and biliary
tract Congenital lactase deficiency Glucose-galactose
malabsorption Sucrase-isomaltase deficiency Intestinal enterokinase
deficiency 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
deficiency)
CBC: 16.1 > 7.1/ 21 < 70, retic: 1%Periferal smear: 58 % PMNL, 40% L, 2% MU/A: pH: 5, SG: 1021, (+) bil, rare leucocytesBMP: 129/4.9, 101/17, 4/0.12, 128/9.28, PO4: 4.83LFT: 3.67/2.01, 95/67, 309/439, 3.22/2.29PT: 15.4, INR: 2, APTT: 45Stool guiac (-) Stool cx Pending, stool parasitis PendingBlood cxPendingVitamin A, D, E & K blood levelsPendingIg A, M, G levels Pending
IVF, Vitamin K, FFP, RBC transfusionsSulbactam-Ampicillin + Amikacin2nd day : T: 38.3, dry cough CXR: hyperinflation,
no infiltrationStool pH: 6, reducing substance (-), stool Fat (-)Stool cx (-), stool parasitis x3 (-), Blood cx(-) Stool guiac x3 (-)Low vitamin A & E blood levelsIg A, M, G levels wnl
Increase LFTs
? Cystic Fibrosis
Malabsorption
Sweat test: 97 mEq/l
The most common lethal inherited disease in the caucasians
An autosomal recessive disorderA disease of exocrine gland function that involves
multiple organ systems Chronic respiratory infections, pancreatic enzyme
insufficiency and associated complicationsMedian survival age-36.9 years
Mutations in the CFTR gene
Protein (Cl channel-CAMP)
Decrease secretion of Cl + increase reabsorb of Na&wateracross 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
infection 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 wheezingRecurrent pneumoniaAtypical asthmaPneumothoraxHemoptysisDigital clubbing Dyspnea on exertionHistory of chest painRecurrent sinusitisNasal polyps
Intestinal Neonates:
Infants may present with intestinal obstruction at birth Meconium ileus (7-10%)VolvulusIntestinal atresiaPerforationMeconium peritonitisPassage of meconium may be delayed (>24-48 h after
birth)Cholestatic jaundice may be prolonged
Infants and children: Increased frequency of stools Malabsorption (ie, fat in stools, oil drops in stools)Failure to thriveIntussusception (ileocecal)Rectal prolapse
PancreaticPancreatic 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 flatusRecurrent abdominal painAbdominal distentionMany infants have symptoms of gastroesophageal reflux
HepatobiliaryGallstonesJaundiceHepatosteatosis, 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 femalesSecondary sexual development is often
delayedAmenorrhea may occur in patients with severe
nutritional or pulmonary involvement
Sweat testThe 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 RepeatFalse (+) 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 recognized
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 beginningRestrictive changes
Semen analysisObstructive 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 carePatient/parent education, including counselingA high-energy and high-fat diet, in addition to vitamin
(especially fat soluble) and mineral supplementationUpper 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) BronchodilatorsMucolytic agents (Dornase alfa)Antibiotics
Cephalosporins-H. inf, Staph. Aureus, Pseu. AureginosaFlouroquinolones-P. aureginosaAerosolized 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
possibleAppropriate 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 formation
Bronchiectasis Atelectasis Pneumothorax Hemoptysis Hypertrophic pulmonary
osteoarthropathy Allergic bronchopulmonary
aspergillosis (ABPA) Pulmonary hypertension Cor pulmonale End-stage lung disease Osteoporosis
Pancreatitis Cystic fibrosis–related
diabetes mellitus Meconium ileus Distal intestinal obstruction
syndrome Gastroesophagial reflux Rectal prolapse Vitamin deficiency (especially
fat-soluble vitamins) Fatty liver Focal biliary cirrhosis Portal hypertension Liver failure Cholecystitis and
cholelithiasis Rickets
Creon 3000 U/kg, multivitamin & minerals, continue IVF and antibiotics
Decrease sO2 78-80%ABG: pH: 7.28, pCO2: 66 Intubation PICUMeropenem & Vancomycin8th day of admission Multiple organ failure DeathHomozygotic ΔF508 mutation (+)Genetic counselling
Full autopsy was doneLungs: 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 congestion
Pancreas: Fibrosis, ductal dilatation, eosinophilic material in the lumens
Brain: Mild edemaOthers: 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.