A 16 year old girl presents to Queen Elizabeth Hospital, Blantyre with a two-month history of facial oedema. It is worse in the morning, slightly better at night and not associated with shortness of breath or cough. She has been well recently, with no intercurrent illnesses. Some kind of antimicrobial was prescribed a month ago, but the swelling was present then and has increased since.
On examination she is slim but has marked bilateral pitting pedal oedema and facial puffiness; her abdomen is also distended, with shifting dullness. She is apyrexial. General examination is unremarkable. Her BP is 112/65, pulse 72. She has reduced breath sounds and dullness to percussion at both lung bases. Heart sounds and abdomen are normal and she has no neurological deficit.
A urine dipstick shows 4+ protein. She has a serum creatinine of 60 micromol/l (0.7 mg/dl) and a normal blood count. Tests of liver function, serum proteins are not available.
- What is the differential diagnosis?
- Renal biopsy is not immediately available here. What management will you recommend? How will you advise her and her parents?
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With 4+ proteinuria and oedema there can be little doubt that she has nephrotic syndrome. It is ‘pure’ nephrotic syndrome, meaning heavy proteinuria without any haematuria, which puts it at the extreme left hand end of the spectrum (see Glomerulonephritis) and makes it significantly less likely that it is caused by post-streptococcal glomerulonephritis or other disorder more toward the ‘nephritic’ end of the spectrum.
She should severely restrict salt intake: oedema is caused by salt retention. Diuretics are often required, usually loop diuretics.
HIV is an important condition in this region. An HIV test is important both because the condition could be a manifestion of HIV affecting the kidney, and because most active treatments for nephrotic syndrome involve immunosuppressive agents.
Minimal change disease would be the most likely explanation in a Caucasian girl. However FSGS is more common as a cause of nephrotic syndrome in Africans: one of these two conditions is most likely. SLE is very unusual before menarche.
If she is HIV negative, a trial of prednisolone, 1mg/kg/day for a few weeks would be worthwhile.
This case is was contributed by Fran Th’ng and Gavin Dreyer