Table 1.
Selected clinical features of the three cases of ARC syndrome
| Case 1 | Case 2 | Case 3 | |
|---|---|---|---|
| Birth weight (kg) | 1.9 kg (2nd centile) |
2.6 kg (9th centile) |
2.6 kg (2nd centile) |
| Last weight (kg) | At 4 months–2.3 kg (<0.4th centile) |
At 9 months–5.6 kg (<0.4th centile) |
At 19 months-5.6 kg (<0.4th centile) |
| Additional features | |||
|
Proteinuria/haematuria Protein:creatinine ratio range (normal <45 mg/mmol in adults) |
+ 1326–3051 mg/mmol No haematuria |
+ 547–2750 mg/mmol No haematuria |
+ 1947–3056 mg/mmol No haematuria |
|
Albuminuria Albumin:creatinine ratio (normal 2.5–3 mg/mmol in adults [22]) |
Not recorded | + 249 mg/mmol |
+ 77 mg/mmol |
| Renal impairment | Intermittent | Intermittent | Intermittent |
| Nephrocalcinosis on renal USS | + | + | + |
|
Metabolic acidosis Lowest serum bicarbonate (normal 21–34 mmol/L) |
+ 9 mmol/L |
+ 7 mmol/L |
+ 10 mmol/L |
|
Hypoalbuminaemia lowest serum albumin (normal 29–55 g/L) |
+ 17 g/L |
+ 12 g/L |
+ 17 g/L |
| Hypothyroidism | + | Transient | − |
| Vitamin D deficiency | + | + | + |
| Secondary hyperparathyroidism | + | + | + |
| Pathological fractures | + Left femur |
+ Left 7th and 8th ribs |
+ Right femur, tibia, radius and ulna |
|
Recurrent infection Pathogens isolated |
+ Enterococcus (×2), Candida (×2), Pseudomonas, Beta haemolytic Streptococcus, Extended spectrum Beta lactamase, Coagulase negative Staphylococcus |
+ Staphylococcus aureus Gram-negative diplococci (type not specified) Respiratory Syncytial virus (×2) Human herpes virus type 6 |
+ Pneumococcus, Enterococcus, Candida (×3) |
| Immunological findings | Low immunoglobulin levels | Not assessed | Normal immunoglobulin levels |
| Haematological findings | Normocytic anaemia Normal platelet count | Normocytic anaemia Normal haematinics Normal platelet count |
Normocytic anaemia Normal haematinics Normal platelet count with large platelets noted on blood film |
+ = present.