The Clinical Problem
A 25 year old man presents because of infertility. He had been tested in a fertility clinic and told that he has azoospermia. One obvious finding on general examination is that he has clubbing. What else do you want to know?
At the end of Round 1, the information available is:
- he is not an alcoholic
- he has been having cough for many years (from childhood)
- the cough is associated with purulent sputum; there has been no hemoptysis
- has taken treatment from doctors often for this cough
- he is unemployed.
- his stools are bulky and sometimes difficult to flush away
Round 2
i think to add to one more bit of information i think was left out is that this patient has bulky stools that appear to float and are harder to wash down.. i think
my next question would be…
does he have any general signs of malnutrition despite good appetite or any specific signs of vitamin A,D,E or K deficiency (dry skin, bleeding tendencies, pathological fractures)?
No dry skin. No bleeding tendencies, no pathological fractures
has he ever had any hospital admissions for any reason before this, from birth till now?
Yes, many times
what were these hospital admissions for?
for respiratory infections
what medication is he on for his cough?
antibiotics, often injectable antibiotics, are given for his cough
on examination, does he have any organomegaly?
this is a non specific question and hence cannot be answered. Organomegaly? Which organ?
Does he have hearing loss?
NO hearing loss
How is the development during neonate's period? Any failure to thrive?
he is underweight for his age and height at the moment. No details of growth in infancy are available.
any history of sinusitis or otitis media since childhood?
Any family member has the similar symptoms like him?
Does he has hypertension or diabetes mellitus?
Is he a smoker?
Any history of jaundice?
heh.. i think u can only ask 1 question at a time… i help dr vela tell you :P
hahaha… so maybe u want to rephrase or choose only 1 question…
Cystic fibrosis:
Reason:
1.-history of chronic recurrent lung infection since childhood
- obstructive lung infection with purulent sputum and clubbing suggest bronchiectasis which is can be caused by cystic fibrosis
2. Infertility-azoospermia: absence of sperm in semen.patients with cystic fibrosis commonly known to have congenital absence of vas deferens (bilateral).This explains why there is no sperms.
3.stools are bulky and steotorrhea: this indicates lack digestion of fat ( lack of lipase?) i think back the involvement of pancreas in cystic fibrosis;thick secretions will block the enzymatic release from pancreas; it will lead to failure to absorb important nutrients ( including Lipid due to deficiency of lipase). This supported by failure of growth due to malnutrition.
my questions:any investigations done to rule out cystic fibrosis such as sweat test?
Recurrent lung infections, purulent sputum, clubbing made you suspect bronchiectasis. Your suspicion is justified but you have made the diagnosis of bronchiectasis without asking for the lung findings. Shouldn't you consider other possible causes like lung abscess.
His stools are bulky and float in the toilet. So you suspect fat malabsorption. This is justified. But then you straightaway attribute it to pancreatic involvement. How are you so sure? Why can't it be a malabsorption syndrome due to intestinal lipase deficiency.
You link the azoospermia with bronchiectasis and chronic pancreatitis and come up with the diagnosis of cystic fibrosis. This is justitified but my point is: you have not established bronchiectasis or chronic pancreatitis yet.
You asked whether the sweat test was done. Yes it was done and the chloride value was more than 60mmol/L. Now, this sweat test confirms the diagnosis of cystic fibrosis and your diagnosis (like the diagnosis of a few others) is correct. But I would have preferred it if you had asked for the lung findings on auscultation (coarse creps bilaterally), asked for the organism identified as the cause of his lung infection (Pseudomonas aeruginosa is a rare cause of lung infections except in cystic fibrosis) and asked for his blood sugar value (elevated because chronic pancreatitis causes diabetes) before you made the diagnosis.
Those of you who wish to read a brief account of the Lancet article can give me your email addresses and I will email it to you. Those who prefer to read the original article on cystic fibrosis may please see the May 30th 2009 issue of the Lancet.