Clinical feature . | Dominant heterozygous (n = 11) . | Recessive (compound heterozygous/homozygous) (n = 10) . | P value . |
---|---|---|---|
Genotype | D209E/N, D212I/N, L1295F/N, L135P/N, L213P/N, L213R/N, L225P/N, Q211K/N, R1380L/N, V86G/N, V86A/N | 2 E382K/E382K, E208K/D1472N, E208K/Y263D, L1148R/R1380C, P45L/G1401R, R168C/G1256S, T229I/V1532L, V215A/V215A, V324M/W688R | NA |
Duration of follow-up (years) | 11.2 (7.9–13.2) | 9.1 (4.1–12.3) | 0.02 |
Male, n (%) | 4 (36) | 6 (60) | 0.27 |
Birth weight (g) | 2,700 (2,100–3,065) (n = 9) | 2,750 (1,510–3,402) (n = 10) | 0.76 |
Age | |||
At diagnosis (weeks) | 6 (2–17) (n = 11) | 11 (1–47) (n = 10) | 0.48 |
At transfer to SU (years) | 5.8 (1.9–12.0) (n = 11) | 10.3 (0.5–26.0) (n = 10) | 0.12 |
Current (years) | 19 (15–23) (n = 11) | 22.5 (11–36) (n = 10) | 0.08 |
Pre-SU HbA1c | |||
% | 6.7 (5.3–7.9) (n = 11) | 8.1 (5.8–9.5) (n = 10) | 0.001 |
mmol/mol | 50 (34–63) (n = 11) | 65 (40–80) (n = 10) | 0.001 |
Year 1 HbA1c | |||
% | 6.0 (5.0–6.9) (n = 10) | 5.7 (5.0–7.3) (n = 8) | 0.92 |
mmol/mol | 42 (31–52) (n = 10) | 39 (31–56) (n = 8) | 0.92 |
Most recent HbA1c | |||
% | 7.0 (5.3–10.3) (n = 11) | 6.3 (5.3–10.1) (n = 10) | 0.32 |
mmol/mol | 53 (34–89) (n = 11) | 45 (34–87) (n = 10) | 0.32 |
SU dose (mg/kg/day glyburide) | |||
Year 1 | 0.09 (0.01–1.25) (n = 10) | 0.50 (0.17–1.11) (n = 8) | 0.08 |
Most recent | 0.36 (0.02–1.45) (n = 10) | 0.35 (0.10–1.30) (n = 10) | 0.67 |
On insulin at recent follow-up, n (%) | 3 (27) | 0 (0) | 0.08 |
With neurological features any at most recent visit, n (%) | 7 (64) | 6 (60) | 0.85 |
Clinical feature . | Dominant heterozygous (n = 11) . | Recessive (compound heterozygous/homozygous) (n = 10) . | P value . |
---|---|---|---|
Genotype | D209E/N, D212I/N, L1295F/N, L135P/N, L213P/N, L213R/N, L225P/N, Q211K/N, R1380L/N, V86G/N, V86A/N | 2 E382K/E382K, E208K/D1472N, E208K/Y263D, L1148R/R1380C, P45L/G1401R, R168C/G1256S, T229I/V1532L, V215A/V215A, V324M/W688R | NA |
Duration of follow-up (years) | 11.2 (7.9–13.2) | 9.1 (4.1–12.3) | 0.02 |
Male, n (%) | 4 (36) | 6 (60) | 0.27 |
Birth weight (g) | 2,700 (2,100–3,065) (n = 9) | 2,750 (1,510–3,402) (n = 10) | 0.76 |
Age | |||
At diagnosis (weeks) | 6 (2–17) (n = 11) | 11 (1–47) (n = 10) | 0.48 |
At transfer to SU (years) | 5.8 (1.9–12.0) (n = 11) | 10.3 (0.5–26.0) (n = 10) | 0.12 |
Current (years) | 19 (15–23) (n = 11) | 22.5 (11–36) (n = 10) | 0.08 |
Pre-SU HbA1c | |||
% | 6.7 (5.3–7.9) (n = 11) | 8.1 (5.8–9.5) (n = 10) | 0.001 |
mmol/mol | 50 (34–63) (n = 11) | 65 (40–80) (n = 10) | 0.001 |
Year 1 HbA1c | |||
% | 6.0 (5.0–6.9) (n = 10) | 5.7 (5.0–7.3) (n = 8) | 0.92 |
mmol/mol | 42 (31–52) (n = 10) | 39 (31–56) (n = 8) | 0.92 |
Most recent HbA1c | |||
% | 7.0 (5.3–10.3) (n = 11) | 6.3 (5.3–10.1) (n = 10) | 0.32 |
mmol/mol | 53 (34–89) (n = 11) | 45 (34–87) (n = 10) | 0.32 |
SU dose (mg/kg/day glyburide) | |||
Year 1 | 0.09 (0.01–1.25) (n = 10) | 0.50 (0.17–1.11) (n = 8) | 0.08 |
Most recent | 0.36 (0.02–1.45) (n = 10) | 0.35 (0.10–1.30) (n = 10) | 0.67 |
On insulin at recent follow-up, n (%) | 3 (27) | 0 (0) | 0.08 |
With neurological features any at most recent visit, n (%) | 7 (64) | 6 (60) | 0.85 |
Data are median (range) unless otherwise indicated. The number of patients is different for each variable because of differences in the amount of available data. NA, not applicable; SU, sulfonylurea.