BOF: 125
A 22-year-old female presents
with severe colicky abdominal pain, vomiting and constipation of 3 days
duration. She had a previous
history of admission to hospital with similar features.
She was admitted under the care
of a surgical team who did not find any specific abnormality on examination. Her
abdominal x-ray and ultrasound scan were normal. She was treated with
antibiotics, analgesics and antiemetics. She developed urinary retention and was
catheterised. It was noticed that her urine was discoloured but this was thought
to be due to trauma. Whilst in ward she developed two tonic- clonic seizures.
You are asked to see the patient and after taking these features into
account you make a diagnosis.
The patient’s father wishes to
know how this condition is inherited and your answer is:
a)
Autosomal recessive
b)
Autosomal dominant
c)
X-linked recessive
d)
Polygenic inheritance
e)
Not an inherited disease
Answer:
b)
The patient has Acute Intermittent Porphyria.
The inheritance of this condition is autosomal dominant
Revision Tip
Revise porphyria KEYS to SUCCESS
in Medicine page 61-63
