From: A novel likely pathogenic CLCN5 variant in Dent’s disease
Test | 1st index case | Brother | Nephew | 2nd index case | Adult reference range |
---|---|---|---|---|---|
Serum creatinine (umol/L) | 1026 | 257 | 163 | 39 | 59 - 104 |
Blood urea nitrogen (mmol/L) | 26.4 | 12.6 | 6.1 | 3.9 | 2.5 – 7.8 |
Serum phosphate (mmol/L) | 1.17 | 0.85 | 0.69 | 1.5 | 0.8 – 1.5 |
Serum adjusted calcium (mmol/L) | 1.73 | 2.45 | 2.42 | 2.53 | 2.2 – 2.6 |
Serum parathyroid hormone (pmol/L) | 68.7 | 3.7 | 2.2 | 0.8 | 1.6 – 6.9 |
Urinalysis | Blood 2+ Protein 1+ | Blood 1+ Protein 1+ Glucose 1+ | Blood 4+ Protein 1+ Glucose 2+ | Protein 3+ | N/A |
Urine protein: creatinine ratio (mg/mmol) | 256 | 164 | 94 | 250 | < 50 |
Urine phosphate (mmol/sample) | 2.4 | Not performed | 15.6 | Not performed | 15.0 – 50.0 |
Urine calcium (mmol/sample) | 0.2 | Not performed | 5.2 | 0.93a | 2.5 – 7.5a |
Urine sodium (mmol/sample) | 17 | Not performed | 184 | 80 | 50 – 200 |
Urine oxalate (mmol/sample) | 86 | Not performed | 277 | Not performed | 100 – 460 |
Blood pressure (mm/Hg) | 140/90 | 138/80 | 102/60 | 91/57 | N/A |