A PUFFY FACE
History
Freddie is a 3-year-old boy who presents to the paediatric rapid referral clinic with a 2- day history of puffy eyes. His GP initially prescribed antihistamines but these have not helped. He is otherwise well. He has asthma, which is treated with budesonide 100 µg b.d. and salbutamol two to six puffs 4-hourly as necessary. He is on no other medication. His mother suffers from asthma and hay fever.
Examination
He looks well and is apyrexial. He has puffy eyes and pitting pedal oedema. Pulse is 112 beats/min, blood pressure is 103/70 mmHg and capillary refill is 2 s. There is no abdominal distension, tenderness or organomegaly. However, his scrotum appears oedematous. Respiratory rate is 28 breaths/min and there are no respiratory signs.
INVESTIGATIONS
Normal
Haemoglobin 15.2 g/dL 11.5–15.5 g/dL
White cell count 11.7 109/L 4.0–11.0 109/L
Platelets 472 109/L 150–400 109/L
Sodium 142 mmol/L 135–145 mmol/L
Potassium 4.2 mmol/L 3.5–5.0 mmol/L
Urea 6.3 mmol/L 1.8–6.4 mmol/L
Creatinine 59 µmol/L 27–62 µmol/L
Alkaline phosphatase 372 U/L 145–420 U/L
Bilirubin 18 µmol/L 2–26 µmol/L
Alanine aminotransferase (ALT) 37 U/L 10–40 U/L
Albumin 19 g/L 37–50 g/L Urine dipstick
Blood, 1+
Protein, 4+
Leucocytes, nil
Nitrites, nil
Questions
• What is the diagnosis?
• What other investigations should to be performed at presentation?
• What is the treatment?
• What are the complications of this condition?
Medicine
The diagnosis is nephrotic syndrome. This condition consists of the combination of oedema, heavy proteinuria (protein 3 on dipstick), hypoalbuminaemia (albumin 25 g/L, it is only when the albumin falls below this level that one gets oedema) and hyperlipidaemia. In about 20 per cent of cases of nephrotic syndrome there is haematuria. However, urine dipstick are very sensitive and this should be confirmed by sending the urine for microscopy to see if red blood cells or red blood cell casts are visible.
The following investigations should be done:
• Blood
– cholesterol and triglyceride levels (elevated in nephrotic syndrome)
– anti-streptolysin O titre (ASOT) and C3/C4 levels to investigate the possibility of post-streptococcal disease
– antinuclear antibody (ANA), which may be positive in vasculitides such as SLE
– hepatitis B antibodies if from an at-risk population, as this is a rare cause of nephrotic syndrome
– measles and Varicella zoster antibodies (these are important to know as children who are on immunosuppressive therapy such as steroids are more vulnerable to these conditions)
– blood culture if febrile
• Urine – microscopy and culture, spot urine protein/creatinine ratio (will be 2 in nephrotic syndrome). Treatment consists of prednisolone 60 mg/m2 (maximum daily dose 60 mg) given as a single morning dose for 4 weeks followed by (if in remission, defined as urine dipstick negative or trace for protein on three consecutive days) a prolonged reducing regime. Because of the increased risk of bacterial infections (due to urinary losses of immunoglobulins, immunosuppressive therapy and other factors), most paediatricians administer prophylactic penicillin until the patient is in remission. Fluid balance is very important. Our patient does not have hypovolaemia, but this should always be assessed, especially if the albumin is very low or if there is vomiting or diarrhoea. Four-hourly observations, including blood pressure, should be done, weight should be assessed once or twice daily, an input/output chart should be kept, and children should be on a low-salt diet. There are several potential complications. Hypovolaemia may present with non-specific symptoms, such as abdominal pain and vomiting. The haematocrit will be 0.45. It can be treated with 0.9 per cent sodium chloride or 4.5 per cent human albumin 10–20 mL/kg intravenously over 1 hour. Bacterial sepsis is a further important complication. Bacterial peritonitis is the commonest type of infection and Streptococcus pneumoniae is the most common organism, but other infections and organisms may also be involved. There is also a risk (2–5 per cent) of thromboembolic events due to hyperviscosity. These may be venous (e.g. renal vein thrombosis) or arterial (e.g. pulmonary embolus). Approximately 70 per cent of patients relapse (2 proteinuria for three consecutive days or proteinuria with oedema).
KEY POINTS
• Nephrotic syndrome consists of the combination of oedema, heavy proteinuria, hypoalbuminaemia and hyperlipidaemia.
• Seventy per cent of patients relapse.
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