By Stephen Hoole, Andrew Fry, Daniel Hodson, Rachel Davies
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G. chronic disease (especially nephrotic and asplenic patients) and the elderly Complications r Lung abscess (Staph. g. Churg–Strauss Abdominal and Respiratory 27 Cystic fibrosis Please examine this young man’s chest and comment on what you find. Clinical signs r Inspection: small stature, clubbed, tachypnoeic, sputum pot (purulent++) and halitosis r Hyperinflated with reduced chest expansion and rib recession (Harrison’s sulci) r Coarse crackles and wheeze (bronchiectatic) Extra points r Examine the precordium: Portex reservoir (Portacath R ) under the skin or Hickman line/scars for long-term antibiotics r Cor pulmonale: cyanosis, ankle oedema, RVH and loud P 2 Discussion Genetics r Incidence of 1/2500 live births r Autosomal recessive chromosome 7q r Gene encodes CFTR (Cl− channel) r Commonest and most severe mutation is the deletion 508/ 508 (70%) Pathophysiology Secretions are thickened and block the lumens of various structures: r Bronchioles → bronchiectasis r Pancreatic ducts → chronic pancreatitis r Gut → distal intestinal obstruction syndrome (DIOS) in adults r Seminal vesicles → male infertility r Fallopian tubes – reduced female fertility Investigations r Screened at birth: low immunoreactive trypsin r Sweat test: Na+ > 60 mmol/L (false-positive in hypothyroidism and Addi- son’s) r Genetic screening Treatment r Physiotherapy: postural drainage and active cycle breathing techniques r Prompt antibiotics for intercurrent infections 28 Abdominal and Respiratory r Pancrease R and fat-soluble vitamin supplements r Mucolytics (DNAse) r Immunizations r Double lung transplant (50% survival at 5 years) r Gene therapy is under development Prognosis Median survival is 35 years but is rising.
I would be grateful for your opinion. 38 History Taking Case 10 Dear Dr, Many thanks for seeing this 20-year-old man who feels increasingly fatigued and unwell. On examination he has bilateral cervical lymphadenopathy, which has been increasing for at least 2 months. There are no nodes elsewhere and there is no other abnormality on physical examination. Case 11 Dear Dr, This 66-year-old female has suffered two episodes of transient loss of consciousness. Apart from these episodes she is in good health.
You think he also had an operation on his neck at some stage. You do not smoke and rarely drink alcohol. You are happily married and keen to start a family in the near future. Problem list r Amenorrhoea and galactorrhoea are suggestive of a pituitary adenoma including a prolactinoma. g. anti-psychotics, can cause hyperprolacti- naemia but rarely SSRIs, and in this case their prescription preceded the symptoms by 2 years. r Other pituitary function appears to be normal. r Crashing the car may have been due to bi-temporal hemianopia.
Cases for PACES, 2nd edition by Stephen Hoole, Andrew Fry, Daniel Hodson, Rachel Davies