A 35-year-old female is admitted to hospital with hypovolaemic shock. CT abdomen reveals a haemorrhagic lesion in the right kidney. Following surgery and biopsy this is shown to be an angiomyolipomata.
What is the most likely underlying diagnosis?
Correct Answer E: Tuberous sclerosis (TS) is a genetic condition of autosomal dominant inheritance. Like neurofibromatosis, the majority of features seen in TS are neuro-cutaneous.
Cutaneous features:
Neurological features:
Also:
*These of course are more commonly associated with neurofibromatosis. However a 1998 study of 106 children with TS found café-au-lait spots in 28% of patients
Which one of the following causes of glomerulonephritis is associated with normal complement levels?
Correct Answer D: Goodpasture's syndrome is rare condition associated with both pulmonary haemorrhage and rapidly progressive glomerulonephritis. It is caused by anti-glomerular basement membrane (anti-GBM) antibodies against type IV collagen. Complement levels are normal.
Glomerulonephritis and low complement
Disorders associated with glomerulonephritis and low serum complement levels:
An 18-year-old girl who is deaf and has a history of renal impairment is reviewed in clinic. She has previously been diagnosed with Alport's syndrome but is thinking about having children and asks about the risks of passing the condition on.
What is the mode of inheritance of Alport's syndrome in the majority of cases?
Correct Answer A: Alport's syndrome - X-linked dominant (in the majority).
Around 10-15% of cases are inherited in an autosomal recessive fashion with rare autosomal dominant variants also existing.
Alport's syndrome:
Alport's syndrome is usually inherited in an X-linked dominant pattern*. It is due to a defect in the gene which codes for type IV collagen resulting in an abnormal glomerular-basement membrane (GBM). The disease is more severe in males with females rarely developing renal failure.
A favourite question is an Alport's patient with a failing renal transplant. This may be caused by the presence of anti-GBM antibodies leading to a Goodpasture's syndrome like picture.
Alport's syndrome usually presents in childhood. The following features may be seen:
*In around 85% of cases - 10-15% of cases are inherited in an autosomal recessive fashion with rare autosomal dominant variants existing
A 73-year-old with a history of alcohol excess is admitted following a fall at home. On admission the following blood results are obtained:
Three days later the blood results are as follows:
Which one of the following would have been most likely to prevent the deterioration in renal function?
Correct Answer C: Collapse + ARF --> rhabdomyolysis - treat with IV fluids.
Intravenous fluids are the most important management step in the prevent of rhabdomyolysis in such patients.
Rhabdomyolysis will typically feature in the exam as a patient who has had a fall or prolonged epileptic seizure and is found to have acute renal failure on admission.
Features:
Causes:
Management:
A 10-year-old boy is taken to see the GP by his mother. For the past two days he has had a sore throat associated with blood in his urine. There is no significant past medical history. The GP suspects glomerulonephritis and refers the patient to hospital.
What would a renal biopsy most likely show?
Correct Answer C: This boy is likely to have IgA nephropathy. Histological features include mesangial hypercellularity and positive immunofluorescence for IgA & C3.
IgA nephropathy Basics:
Differentiating between IgA nephropathy and post-streptococcal glomerulonephritis:
Presentations:
Associated conditions:
Prognosis:
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