Cystic fibrosis is associated with:
Ans: A (Meconium ileus) Ref: Nelson's Textbook of Pediatrics. 19th Edition & Harrisons 18th edn, pg 2149Neurologic Maturation of the Fetus and NewbornFUNCTION26 WEEKS30 WEEKS34 WEEKS38 WEEKSRestingFlexion of armsFlexion of armsFlexion of allFlexion of allpostureFlexion or extension of legsFlexion or extension of legslimbslimbsArousalUnable to maintainMaintain brieflyRemain awakeRemain awakeRootingAbsentLong latencyPresentPresentSuckingAbsentLong latencyWeakVigorousPupillaryAbsentVariablePresentPresentreflex TractionNo responseNo responseHead lagMild head lagMoroNo responseExtension; no adductionAd auction variableCompleteWithdrawalAbsentWithdrawal onlyCrossedextensionCrossedextensionExplanation:In 15-20% of newborn infants with Cystic fibrosis CF. the ileum is completely obstructed by meconium (meconium ileus).The frequency is greater (=30%) among siblings born subsequent to a child with meconium ileus and is particularly striking in monozygotic twinsAbdominal distention, emesis, and failure to pass meconium appear in the 1st 24-48 hr of lifeAbdominal radiographs show dilated loops of bowel with air-fluid levels and. frequently, a collection of granular, "ground-glass" material in the lower central abdomen.Rarely, meconium peritonitis results from intrauterine rupture of the bowel wall and can be detected radiographically as the presence of peritoneal or scrotal calcifications.Meconium plug syndrome occurs with increased frequency in infants with CF but is less specific than meconium ileus.Heal obstruction with fecal material (distal intestinal obstruction syndrome ) occurs in older patients, causing cramping abdominal pain and abdominal distention.Cystic fibrosisAutosomal RecessiveMutation in CFTR (cysic fibrosis transmembrane conductance regulator) geneClinical FeaturesBronchiectasisExocrine pancreatic insufficiencyIntestinal dysfunctionAbnormal sweat gland functionUrogenital dysfunctionCF airway epithclia exhibit abnormal Cl- secretion & Na+ absorptionPredisposes to infections. Staph.aureus. Pseud.aeruginosa. Others are H.influenz, Alcaligenes, Burkholderia. Proteus, E.coli. Klebsiella, AspergillusLack of CFTR Cl- channel in the apical membrane of pancreas, failure to secrete NaHC03 & water, destruction of the pancreasIn the sweat glands, inability to absorb Cl- from the sweat leads to high Cl- concentrations in sweat measured after iontophoresis of cholinergic agentsSpirometry: | RV/TLC. & | FVC & | FEV1CXR- hyperinflation, brochiectasis, right upper lobe (Earliest involved)Clubbing, pneumothorax, hemoptysis, corpulmonaleGIT: Meconium ileus, DIOS, protein & fat malabsorption, diabetes laterGUT: late onset puberty, azoospermia, female infertilityTreatmentGene therapy of CFTR geneClearance of secretions with hypertonic saline, antibioticsRecombinant human DNAse to degrade DNA in sputumPancreatic enzyme replacement, Vit E & K, InsulinMegalodiatrizoate enema for acute intestinal obstructionUrodeoxycholic acid for cholestatic liver diseasePredisposed to renal stones and osteoporosis
Meconium ileus
Short bowel syndrome
Hirschprung disease
Congenital pyrolic stenosis
Disorders of the Respiratory Tract