Clinical Case 005 – Puffy, pruritic Paed

3 yo girl presents to ED from remote community with “?allergic reaction” – developed an urticarial rash yesterday which was thought to be due to “grass allergy” – no recent illness, meds or obvious insect / bee stings or immunisation.  Referred the next day after she developed generalised oedema and weight noted to jump at least 1.5 kg (10%).  On arrival – obs all normal, normotensive, generalised swelling to limbs, face and perineum.  Urinalysis = 4+ protein, no red cells, +leuks.  ENT exam – no pharyngitis, chest clear, belly soft, no organomegaly.

So what is going on?

Provisional diagnosis was  Neprotic syndrome (NS), given age and absence of clear historical cause this is most likely due to Minimal Change Disease (MCD).

Diagnosis includes:  proteinuria ( > 3.5g/day), hypoalbuminemia, generalised oedema, hyperlipidemia.  Usually normotensive.

Our girl had 4+ proteinuria, low plasma albumin (28), normal lipid profile.

Other investigations – aim at identifying underlying causes: complement level, ANA, ds DNA, serology – Hepatitis/HIV, VZV, throat swab, TFTs.

Initial management:  immunosuppression with 2 mg/kg / day of prednisolone,  cover  with penicillin orally for risk of infection wit loss of Ig.

Monitor renal function, though prognosis is good and most have no change in GFR.  Avoid hypovolemia, traditionally low-salt, high protein diet.  There is a risk of ‘thrombotic complications’ such as renal vein thrombosis, PE etc; though this is more likely with proliferative disease in older people.

Have you seen NS, it strikes me as one of those diagnoses you have to think about or it could be missed.  Any insights?