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This case presentation summarizes the medical history and examination findings of a 14-year-old male patient with cystic fibrosis. Key details include a long history of recurrent respiratory infections and hospitalizations since infancy, delayed growth and development, and diagnostic testing confirming cystic fibrosis. On examination, the patient had clubbing, cyanosis, lung findings of bronchial breathing and rhonchi, and malnutrition. Investigations revealed an F508 mutation and elevated sweat chloride. The presentation concludes with an overview of cystic fibrosis including genetics, pathophysiology, clinical manifestations, diagnosis, and multidisciplinary treatment approach involving pulmonary therapies, nutritional support, and managing complications.
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- 1. Case Presentation By Dr. M. Waqqas Akram FCPS II Resident Department of Pediatrics BBH, Rawalpindi
- 2. Profile Name: Imran Age: 14 yrs Sex: Male Residence: Sadiqabad, Rawalpindi. Date of Admission: 1st Dec. 2008
- 3. Presenting Complaints Productive cough 1 yr Progressive breathlessness
- 4. History of Present Illness Cough – early morning & after activity Copious and tenacious sputum Sputum volume around 2-3 cups/day Purulent & foul smelling
- 5. Breathlessness Orthopnea Occasional cyanosis Wheeze High grade fever No H/O hemoptysis, stridor & chest pain
- 6. Systemic Inquiry Bulky and greasy stools Lack of appetite and weight loss No H/O Nasal obstruction or nasal discharge Earache & discharge, Polyuria, polydypsia, Jaundice, Hemetemesis, petechiae & bruises
- 7. Past History Recurrent pneumonia from 1 m of age Frequent hospitalizations Adverse effects on growth & development Usual treatment with antibiotics Received ATT twice at the age of 5 & 9yrs
- 8. Birth History Antenatal history was unremarkable Spontaneous vertex delivery at home No perinatal complications Passed meconium within 24hrs after birth
- 9. Developmental History Delayed motor milestones Immunization History Vaccinated according to EPI schedule BCG scar +ve
- 11. Social History Discontinuation of schooling Limitation of physical activity Feels low and lands into depression during exacerbation of symptoms
- 12. Fears for the future Financial considerations Other siblings get neglected
- 13. Examination: General Physical Examination An ill looking young boy sitting on the bed in respiratory distress Vitals R/R: 45/min Pulse: 102/min Temp: 99 F Blood Pressure: 100/60 mmHg
- 14. General Physical Signs Grade 4 clubbing Pallor Cyanosis Edema feet Absent secondary sexual characters No lymphadenopathy and stigmata of chronic liver disease
- 15. Anthropometric Measurements Height: 132 cm < 5th centile Weight: 24 kg < 5th centile OFC < 5th centile : 51 cm
- 16. Systemic Examination Respiratory System: Inspection: Barrel Pectus shaped chest Carinatum Bilaterally equal chest movements
- 17. Palpation: Central Chest trachea expansion 1.8 cm Normal & equal vocal fremitus on both sides
- 18. Percussion Resonant on both sides Auscultation Low pitched bronchial breathing B/L coarse crepts and rhonchi Vocal resonance normal and equal on both sides No whispering pectoriloquy
- 19. Examination of CVS Pulse 102/min, Regular, Normal volume & character No radiofemoral delay JVP Raised
- 20. Precordium Inspection: No bulge, prominent veins & scar marks Pulsations in epigastrium Palpation Apex beat - normal Heave in epigastrium No parasternal heave, palpable heart sounds or thrill
- 21. Auscultation S1 S2 audible, normal intensity & character No murmur
- 22. Abdominal Examination Inspection Normal shaped abdomen with Central umblicus No prominent veins or scar marks Intact hernial orifices Palpation Soft & non tender Hepatomegaly No other visceromegaly
- 23. Percussion No evidence of free fluid in peritonium Liver span 6cm Auscultation Normal bowel sounds No bruit
- 24. Examination of the CNS Higher Mental Functions Fully conscious, well oriented Normal behaviour Good memory & general intelligence Cranial Nerves Intact
- 25. Motor System Normal bulk & nutrition of muscles Tone & power is normal in all muscle groups Deep & superficial reflexes intact No cerebellar signs Sensory System Intact primary & cortical sensations
- 26. Provisional Diagnosis Cystic Fibrosis Differential Diagnosis Primary Cilliary Dyskinesia Immunodeficiency Syndrome Bronchial Asthma Resistant Pulmonary Tuberculosis
- 29. CT Scan Chest
- 30. DNA testing for CFTR Mutations F 508 Mutation Sweat Chloride Test Serum Amylase Normal 72 hrs stool Analysis Pulmonary Function Tests Obstructive pattern with reduced FVC & FEV1 / FVC 76% Sputum for Microbiologic Studies Pseudomonas E.coli
- 31. Supportive Investigations Blood CP LFTs Serum Electrolytes Random blood sugar and Glucose tolerance test RFTs ABGs ECG Echocardiography
- 32. Cystic Fibrosis: “Cystic fibrosis is an inherited multisystem disorder Characterized by obstruction & infection of airways & by maldigestion & its consequences”.
- 33. Genetics: It is inherited as an autosomal recessive trait Gene locus on long arm of chromosome 7 Cystic fibrosis gene codes for a protein of 1,480 amino acids called CF transmembrane regulator (CFTR) CFTR is expressed on ephitheial cells of airway, GIT, sweat glands & genitourinary system a Most prevalent mutation of CFTR is deletion of single phenylalanine residue at amino acid 508 (508)
- 34. Pathogenesis: 4 important observations 1- Failure to clear mucous secretions 2- Paucity of water in mucus secretions 3- Elevated salt content of sweat & other serous secretions 4- Chronic infection limited to respiratory tract Membrane of CF epithelial cells are unable to secrete chloride ions in response to cyclic AMP mediated signals & excessive amount of sodium are absorbed through these membranes
- 35. There is inability to secret salt & water in presence of excessive reabsorption of salt & water Leads to insufficient water on airway surface This causes desiccated secretions to become Viscous & elastic & are harder to clear Secretions are Retained & obstruct airway
- 38. Pathology: Lungs: Bronchiolitis is the earliest lesion With time inflammation extends to larger airway causing bronchitis With long standing disease there is bronchiolar obilteration, bronchiolectasis & bronchiectases Bronchiectatic cysts & emphysematous bullae or subpleural blebs, pneumothorax may occur in advanced lung disease Tortuous & enlarged bronchial arteries occur leading to hemoptysis Medial hypertrophy of small pulmonary arteries occur in sec. pulm. HTN
- 39. Pancreas: Small & cystic In 85-90% pts. Lesion progresses to complete or almost complete disruption of acini Replacement of acini with fibrosis & fat. Foci of calcification may occur
- 40. Intestinal Tract: Minimal changes Esophageal, duodenal glands, crypts of appendix & rectum distended with mucus secretions Biliary System: Focal biliary cirrhosis, causes occasional cases of prolonged neonatal jaundice becomes more prevalent extensive with age Symptomatic multilobular biliary cirrhosis Fatty infiltration of liver in 30% pts Gallbladder may be hypoplastic with secretions & stones Atresia of cystic duct & stenosis of distal common bile duct
- 41. Glands of Male & Female Genitourinary system: Endocervicitis in teenagers & young women Body & tail of epididymis, vas deferens & seminal vesicles are abliterated in >95% males Generalized amyloidosis rare
- 42. Clinical Manifestations: Respiratory Tract: Symptoms COUGH, most constant symptom, dry & hacking first & later productive Wheezing Shortness of breath Exercise intolerance Failure to gain weight Rhinorrhea Nasal obstruction Signs Digital clubbing Cyanosis Increased AP diameter of chest Generalized hyper resonance Scattered or localized coarse crackles Expiratory wheeze Acute sinusitis Nasal polyps
- 43. Intestinal Tract: Meconium Ileus: first In 15-20% Newborn with cystic fibrosis Abdominal distension, emesis & failure to pass meconium appear within 24-48 hrs of life Meconium peritonitis occurs as a complication Meconium Plug Syndrome Less specific than meconium ileus Distal intestinal obstruction syndrome or meconium ileus equilent in ileal obstruction with fecal material occurs in older pts
- 44. Intestinal Tract: Symptoms Frequent, bulky, greasy stool Excessive flatus Epigastric pain Acid or bile reflux Failure to gain weight Dementia Peripheral neuropathy Bleeding diathesis Night blindness Rickets Signs Protuberant abdomen Decreased muscle mass Poor growth Delayed maturation Intussusception Fecal impaction ofcecum Subacue appendicitis Periappendiceal abscess Anasarca (In malnourished)
- 45. Biliary Tract: Biliary cirrhosis symptomatic in 23% pts Icterus Ascites Hematemesis Hypersplenism Neonatal Hepatitis like picture Hepatomegaly Biliary colic
- 46. Pancreas Exocrine pancreatic insufficiency Hyperglycemia Glycosuria Polyuria After 10 yrs of age when 8% acquire diabetes Weight loss Recurrent acute pancreatitis
- 47. Genitourinary system An average of 2 yrs delay in sexual development Males >95% azoospermic Sexual function unimpaired Increased incidence of inguinal hernia, hydrocele & undescended testis Female Secondary amenorrhea Cervicitis Decrease fertility Good pulmonary functions pregnancy well tolerated
- 48. Sweat Glands During gastroenteritis & warm weather Excessive loss of salt in sweat Hypochloremic alklosis
- 49. Diagnosis: Diagnostic Criteria for Cystic Fibrosis Presence of typical clinical features OR History of CF in a sibling OR Positive newborn screening test PLUS Lab evidence for CFTR dysfunction two elevated sweat CL conc, obtained on separate days OR Identification of 2 CF mutations OR An abnormal nasal potential difference measurement
- 50. Diagnosis Sweat Testing > 60mEq/L of chloride in sweat is diagnostic for CF when one or more other criteria are present Threshold levels of 40mEq/L have been suggested Values b/w 40-60mEq/L suggest CF at all ages Other Diagnostic Tests In pts with equivocal or frankly normal sweat chloride values, following tests are used to confirm diagnosis Increased potential difference across nasal epithelium Loss of this difference with topical amiloride application Absence of a voltage response to a B – adrenergic agonist Failure to sweat when a combination of isoproterenol and atropine is injected in skin
- 51. Diagnosis Radiology Pulmonary Hyperinflation of lung Bronchial thickening & plugging & ring shadows (sugg. Bronchiectasis) Nodular densities, patchy atelactasis, confluent infiltrates Prominent hilar lymph nodes Depression of diaphragm Anterior bowing of sternum Narrow cardiac shadow Cystic formation, extensive bronchiectasis, dilated pulmonary artery segments, segmental or lobar atelactasis Paranasal Sinuses Pan opacification Failure of frontal sinus to develop Fetal USG Ileal obstruction with meconium in 2nd trimester
- 52. Diagnosis Pulmonary Function Not obtained till 5-6 yrs of age Residual volume & functional residual capacity are increased (early finding) Declining total lung capacity & vital capacity (late finding) Microbiological Studies Staph aureus, pseudomonas aeruginosa, B. cepacia
- 53. Treatment 1- Pulmonary therapy 2- Nutritional therapy 3- Treatment of Complications
- 54. Pulmonary Treatment: Antibiotic therapy Oral Antibiotic Therapy Indications: Presence of respiratory tract symptoms Identification of pathogenic organisms in respiratory tract cultures Organisms Staph aureus, H. influenzae, P. aeruginosa, Burkholderi cepacia Duration of therapy 2 wks or more
- 55. Pulmonary Treatment (Cont…) Antibiotic Therapy Aerosolized Antibiotic Therapy Inhaled tobramycin, 300mg twice daily on alternate months for 6 months Ticarcillin, 0.5g, BD OR QID Colistin, 20-40mg, BD OR QID Intravenous Antibiotic Therapy Indicated in pts. Who have progressive or unrelenting symptoms or signs despite intensive home measures Period of treatment is 14 days Pseudomonas requires 2 drug therapy B. cepacia refractory to antibiotic therapy
- 56. Pulmonary Treatment (Cont…) Nebulized Treatment Bronchodilators Distilled water Mucolytics Antibiotics Gromolyn Corticosteroids Hypertonic 6% saline Nebulized amiloride Uridine triphosphate Antiprotease proteins Recombinant alpha 1 antitryspin Recombinant human secretory leukoprotease inhibitor
- 57. Pulmonary Treatment (Cont…) Bronchodilator Treatment Inhaled B2 agonists Anticholinergics Oral theophylline Anti Inflammatory Treatment Long term use of oral corticosteroids & ibuprofen Mucolytic Treatment: Dornase Alpha (Recombinant Human Deoxyribonuclease 1) Cleaves extracellular DNA & decreases viscoelasticity of purulent secretions Used in chronic suppurative disease or obstructive disease Dose: 2.5 mg OD
- 58. Pulmonary Treatment (Cont…) Chest Physical Therapy 10-20 min One to 4 time a day Routine aerobic exercises Endoscopy& Lavage Tracheobronchial suctioning or lavage Expectorants Lodides Guaiphenesin
- 59. Nutritional Therapy 90% pts have complete loss of exorine pancreatic function & inadequate digestion of fats & proteins Diet CF pts require 120% of normal energy requirement Liberal diet containing Fats Sugar Salt Milk products Protein foods Advanced lung disease NG tube or gastrostomy
- 60. Nutritional Therapy (Cont…) Pancreatic Enzyme Replacement Fat absorption improves from 60% without therapy to 85-90% with therapy An upper limit of 10,000 units lipase /kg/day PERT for infants -----500-1000 units lipase per gram of dietary fat PERT for children ----500-4000 units lipase per gram of dietary fat
- 61. Complications Atelectasis Pneumothorax Allergic Aspergellosis Nontuberculous Mycobacterial infection Bone & joint complications Acute & chronic respiratory failure
- 62. Management Issues Is lung transplantation an option for this patient? Is modification of current medical treatment warranted? When should the patient be transferred to adult care? How much the patient should know about the disease? How to counsel the child and the family?
- 63. Thank You