Table 1.
Selected clinical and biochemical features of dRTA patients
| Patient | Age at diagnosis | Deaf | Consang | K | Cl | HCO3 | pH | Nephro-calcinosis |
|---|---|---|---|---|---|---|---|---|
| Dominant | ||||||||
| 10-1 | 27 yr | No | No | 4.4 | 111 | 19.5 | 7.35 | No |
| 10-2 | 25 yr | No | 4.6 | 114 | 19.4 | 7.37 | No | |
| 10-3 | 10 yr | No | 4.2 | 108 | 19.5 | 7.29 | No | |
| 10-4 | 10 yr | No | 3.7 | 109 | 19.5 | 7.29 | No | |
| 10-5 | 10 yr | No | 3.7 | 108 | 17.4 | 7.30 | No | |
| 10-7 | 17 yr | No | 3.4 | 110 | 20.1 | 7.38 | No | |
| Recessive | ||||||||
| 2-1 | 4 yr | Yes | No | 3.1 | 110 | 15.5 | NA | Yes |
| 3-1 | 6 wk | No | No | 2.2 | 125 | 9.7 | 7.22 | Yes |
| 4-1 | 3 wk | No | Yes | 2.4 | 110 | 5.5 | 7.1 | Yes |
| 5-1 | 1 yr | No | Yes | 3.1 | 106 | 11.0 | 7.12 | Yes |
| 11-1 | 5 yr | No | Yes | 1.58 | 108 | 12.0 | 7.2 | Yes |
| 12-1 | 2 mo | Yes | No | 2.6 | 140 | NA | 7.30 | Yes |
| 12-2 | 5 mo | Yes | NA | NA | NA | NA | NA | |
| 14-1 | 6 yr | No | Yes | 3.5 | 105 | 13.0 | 7.2 | Yes |
| 17-1 | 1 wk | No | Yes | 2.7 | 116 | 12.0 | 7.25 | Yes |
| 17-2 | 3 wk | No | 4.1 | NA | 12.0 | NA | Yes | |
| 17-3* | 1 wk | No | 4.5 | NA | 13.0 | NA | Yes | |
| 19-1 | 3 mo | Yes | Yes | 2.6 | 108 | 8.4 | 7.2 | Yes |
| 19-2 | 11 mo | Yes | 2.8 | 102 | 6.7 | 7.12 | Yes | |
| 20-1 | 2 mo | No | Yes | 2.3 | 119 | 4.8 | 7.07 | Yes |
| 22-1 | 4 mo | No | Yes | 2.7 | 104 | 12.0 | 7.2 | Yes |
| 22-2 | 6 mo | No | 2.34 | 104 | 13.6 | 7.21 | Yes | |
| 23-1 | 3 mo | No | Yes | 2.8 | NA | 12.0 | 7.1 | Yes |
| 24-1 | 2 yr | Yes | Yes | 2.8 | 109 | 6.3 | 7.1 | Yes |
| 24-2 | 4 yr | Yes | 2.8 | 110 | 11.0 | 7.2 | Yes | |
| 25-1 | 2 mo | Yes | Yes | 2.4 | 114 | 15.0 | 7.3 | Yes |
| 26-1 | 1 mo | Yes | Yes | 2.1 | 102 | 10.0 | 7.1 | Yes |
| 27-1 | 3 mo | No | Yes | 2.8 | 102 | 12.0 | 7.16 | Yes |
| 27-2 | 5 yr | No | 2.2 | 106 | 14.0 | 7.18 | Yes | |
| 28-1 | 1 yr | No | Yes | 2.77 | 94 | 14.0 | 7.23 | Yes |
| Transmission uncertain | ||||||||
| 6-1 | 25 yr | No | No | 3.3 | NA | 19.5 | NA | Yes |
| 6-2 | 37 yr | No | 3.3 | NA | 17.8 | NA | Yes | |
| 7-1 | 5 mo | Yes | No | 3.0 | 124 | 14.8 | 7.26 | Yes |
| 8-1 | 12 yr | No | No | 3.1 | NA | 10.3 | 7.21 | Yes |
| 13-1 | 9 yr | No | No | 2.9 | 116 | 12.0 | 7.3 | Yes |
| 15-1 | 1 mo | No | No | 3.2 | 113 | 13.4 | 7.24 | Yes |
| 16-1 | 19 mo | No | No | 4.5 | 115 | 11.1 | 7.23 | No |
| 18-1 | 3 mo | Yes | No | 2.2 | 119 | 13.0 | 7.26 | Yes |
| 29-1 | 6 mo | No | No | 3.2 | 104 | 11.0 | 7.12 | Yes |
Consang, consanguineous union of related parents (see Fig. 2); NA, not available. Normal ranges: plasma K, 3.5–5.0 mmol/liter; Cl, 94–104 mmol/liter, HCO3, 20–30 mmol/liter; arterial pH, 7.36–7.44.
*
Values for elder of monozygotic twins.