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Welcome to Weekly CasePresentation

DR HENA KHATUNMD STUDENT ( Thesis Part )

On behalf of MU – IINATIONAL INSTITUTE OF DISEASE OF THE CHEST AND

HOSPITAL

A Single Mutation Resulting Multiple Diseases

Chief ComplaintsAtiqur Rahman 16 years old boy hailing from Bogura with the chief complaints of1) Increased cough and sputum production

for 1 month2) Increased Breathlessness for 1 month3) Coughing up of blood for 20 days4) Fever for 10 days

History of present IllnessHe has been suffering from recurrent attack of cough and sputum production since his age of 3 years. And few years after the onset of these illness the cough and sputum production became persistent and present throughout the year. Sometimes the severity of cough increases and the volume of sputum production also increases with purulent character. In some occasion it also becomes foul smelling. The days of increased severity of illness is also associated with fever, malaise and anorexia.

History of present Illness……..• His amount of sputum varies between 30 ml to 250 ml per day.• He is also suffering from breathlessness for the last 5 years on

moderate to severe exertion which has no diurnal or seasonal variation. Not associated with wheeze,runny nose or nasal blockade. Not aggravated by cold or dust exposure. Never experienced paroxysmal nocturnal dyspnoea.

• Had no history of contact with tuberculosis patient.• Gave no history of chest pain and swelling of ankle.

History of present Illness……..• His bowel and bladder habit is normal.• He is Normotensive and diagnosed as a case of diabetes

mellitus 17 months back and since then he is on insulin.

History of present Illness……..• Cough , sputum production and breathlessness are increased

for the last one month. And for the first time he is suffering from coughing up of blood for the last 20 days. Fever also present for the last 10 days which is high grade intermittent in nature subsides with taking paracetamol.

• Cough is occurring throughout the day and night . Sputum became purulent with daily amount about 200 ml. And he is breathless even at rest now.

• Initially haemoptysis was scanty but 3 days back about 500 ml of blood is coughed up in 2 episodes.

History of present Illness………

• With these complaints he got admission in BMCH where after initial management they referred him to NIDCH for better treatment on 11th August of this year.

History of past illness• Three times admission in hospital during the last 2

years for increased cough, sputum production and dyspnoea.

Family History• His elder brother had similar type of illness with

recurrent respiratory tract infection and died at the age of 21 years. One of his sisters had also diabetes and died at 20 years of age. Consanguinity is absent in his parents.

Personal History• He had to discontinue his study after class 8 due to his

chronic illness. He is non-smoker and non-alcoholic .

Socioeconomic Condition• He came of a low socioeconomic status. His father is a

cultivator. They reside in a tin shed house and has excess to safe drinking water and sanitation.

Drug History

For his illness he took several types of antibiotics and other medication from local doctor but couldn't mention the name.

General examination• The patient is emaciated.• Dyspnoic, excessory muscles of respiration are active , there is excavation

of suprasternal and supraclavicular fossa and intercostal in drawing present.

• Well cooperative.• Clubbing present in both toes and fingers.• Anaemia, jaundice, cyanosis, oedema, dehydration, koilonychia and

leukonychia are absent• No thyromegaly or lymphadenopathy• JVP not raised• No boney tenderness present

General examination…….• Pulse 104/min• BP 100/70 mm of mm Hg• RR 28 breaths/min

General examination……

Respiratory System ExaminationInspection:• Dyspnoic• Kyphosis present• Movement bilaterally symmetrical Palpation:• Trachea - central• Apex beat – Left 5th ICS just medial to mid clavicular line• Vocal fremitus – bilateral normal• Chest expansion – bilateral symmetrical , total expansion 3 cm

Respiratory System Examination……..Percussion note:• Resonant bilaterally • Upper border of liver dullness – 7th ICS in right mid clavicular lineAuscultation : • Breath sound – vesicular with prolonged expiration• Added sound – coarse crepitation are present in all spaces

bilaterally along all three lines. Altered with coughing. Rhonchi present.

• Vocal resonance – normal bilatarally

Kyphosis of the chest

• Other system examination reveals no abnormality.

Provisional DiagnosisExacerbation of Bilateral Bronchiectasis with Diabetes Mellitus due to cystic fibrosis

Differential Diagnosis• Acute Exacerbation of Childhood Asthma with

Bilateral Bronchiectasis with Diabetes Mellitus

InvestigationsCBC:• Haemoglobin 12.2 gm/dl• Total WBC count – 18000/cmm• N – 62%• L – 26%• M – 10%• E – 02%• ESR – 24• Total platelet count – 225000/cmm

Investigations…..• RBS – 366 mg/dl• Blood urea – 35 mg/dl• S. Creatinine – 0.9 mg/dl• S. Bilirubin – 0.5mg/dl• SGPT – 18u/L• Sputum for AFB – negative • Urine routine and microscopic exa.- sugar present +

Investigations…….

• USG of whole abdomen – Normal study• Chest x-ray P/A view – normal study• X-ray dorso-lumber spine - kyphosis• CT scan of the chest – Bilateral bronchiectatic

changes in all lobes

20/08/16

30/08/16

29/08/16

Spirometry with reversibility test( 3/9/16)variables Pre- Bronchodilator Post-Bronchodilator

Actual Predicted %Predicted Actual %Predicted %Changed

FVC(L) 0.99 3.22 30 1.11 34 +12

FEV1(L) o.42 2.88 14 0.46 16 +11

FEV1/FVC 42 85 49 42 49 +0

FEF(L/sec) 1.25 6.31 19

FEF 25-75%

0.18 3.42 5 0.23 6 +27

Six Minute Walk Test ( 3/9/16)Variables Baseline At the end of Test After 5 min of rest

Pulse ( beats/min) 77 92 76

Spo2 (%) 87 75 86

RR (breaths/min) 28 32 28

Distance walked 1290 feet

Other observation: SOB :PresentChest pain : AbsentTaking rest during test : No.Comment : Significant desaturation with mild limitation in walking distance.

ABG ( 3/9/16)Variables Values

PH 7.39

PCO2 48.4

PO2 51

HCO3 28.6

Sputum for C/S• Klebsiella Significant• Sensitive to colistin, imipenem and

piperacillin/tazobactam• Resistant to amikacin, levofloxacin, cefuroxime and

gentamycin.

Sweat test• Sweat test for electrolytes – Sodium 165.60 mmol/L Chloride 149.10 mmol/L

• Saccharin Test- Negative

Confirmatory Diagnosis

Exacerbation of Bilateral Bronchiectasis With Diabetes Mellitus due to Cystic Fibrosis with Type I Respiratory Failure.

Treatment given in Hospital• Oxygen inhalation 4 to 5 litre per min• Antibiotic – initially empirically and then changed according to

culture sensitivity• Cap tranexamic acid• Inj Amyinocaproic acid• Nebulisation with bronchodilator• Postural drainage of chest secretion and physiotherapy• N-acetylcystine• Insulin

Out come• Haemoptysis is controlled• Fever was subsided• Cough and SOB reduced significantly• Patient was able to do his daily self care without SOB.

Cystic Fibrosis• Cystic Fibrosis is a progressive autosomal-recessive genetic ,

multi-system disease that affects lungs, sweat glands, gut epithelium, pancreas, liver and reproductive tract and to which there is no cure till today.

• It is the result of mutations affecting a gene on the long arm of chromosome 7, which codes for a chloride channel known as cystic fibrosis transmembrane conductance regulator(CFTR); this influence salt and water movement across the cell membrane.

Cystic Fibrosis…….

Medical and technological advancements have substantially increased the life expectancy of CF patients, from an average of eight years in 1974 to thirty in 2000 and thirty seven today and some patients are even living into their 40s and beyond.

Cystic Fibrosis……..• Behind this achievement there are efforts of so many

organizations world wide including Cystic Fibrosis Foundation, USA ; the mission of the Foundation is to cure cystic fibrosis and to provide all people with the disease the opportunity to lead full, productive lives by funding research and drug development, promoting individualized treatment and ensuring access to high-quality, specialized care

Lung Pathology• The genetic defect causes increased resorption of sodium

and water from respiratory epithelium and dehydration of the airway epithelium is thought to predispose to chronic bacterial infection and ciliary dysfunction , leading to bronchiectasis, progressive lung damage and ultimately developed respiratory failure.

Cystic Fibrosis related Diabetes• Hyperglycemia can occure due to progressive loss of the

pancreatic islets in CF.• It can occur at any age but generally a problem in the second

and third decades of life.• Ketoacidosis is rarely encountered.• When blood glucose level is intermittently elevated and

glycosuria is not present, no treatment is necessary.• If sustained glyscosuria develops, insulin treatment should be

instituted.• Oral hypoglycemic agents are considered ineffective but may

be helpful in selected patients.

Sweat Test• The sweat test is considered the ‘’ gold standard’’ for the

diagnosis of CF. • The acceptable procedure for diagnosis is called

quantitative iontophoresis.• The method stimulate localized sweating on the forearm or

on the thigh using a chemical called pilocarpine. • Sweat is then collected on filter paper or gauze or in

microbore tubing.• The collected sweat is then analysed for chloride

concentration.

Procedure• An area of skin on the arm will be washed and dried. Next,

two electrodes are attached with straps. One of these contains a disc with pilocarpine gel, a medicine that makes the sweat glands produce sweat. A weak electric current pushes the medicine through the skin. After this is done, the electrodes are removed and the skin is cleansed.

Step 1

Procedure ……..• A special sweat collection device is then attached to the

clean skin surface in the area where the sweat glands were stimulated. It’s taped to the skin to keep it from moving. The sweat is collected for 30 minutes. The sweat that’s collected turns blue when it comes into contact with blue dye within the collector, making it visible to the technician.

Step 2

Interpretation of Sweat Test

Novel Therapy for Cystic Fibrosis• Small molecules designed to correct the function of particular

CFTR defects are developed.• One of the molecule is EVACAFTOR which is an oral

medication that is the first drug available that targeted the underlying cause of CF- the defective CFTR protein.

• EVACAFTOR helps facilitate the opening of the chloride channel on the cell surface to allow chloride and sodium to move in and out of the cell.

Novel Therapy for Cystic Fibrosis…..• In clinical trials , people with CF who took the drug

had improved lung function, reduced pulmonary exacerbations, increased weight and improved quality of life measures.

Thank you for Patience Hearing!