Table 2.
Characteristics of 686 patients tested for a HNF1 B mutation at Exeter Molecular Genetics Laboratory
|
Total HNF1B status |
p OR (95% CI) |
Children (≤16 years) HNF1B status |
p OR (95% CI) |
Adults (>16 years) HNF1B status |
p OR (95% CI) | ||||
|---|---|---|---|---|---|---|---|---|---|
| mutation, % (n = 177) | normal, % (n = 509) | mutation, % (n = 116) | normal, % (n = 300) | mutation, % (n = 61) | normal, % (n = 209) | ||||
| Renal phenotype | |||||||||
| Antenatal renal abnormalities | 54 (30.5) | 83 (16.3) | ≤0.0001 2.3 (1.5–3.4) | 53 (45.7) | 80 (26.7) | 0.0003 2.3 (1.5–3.6) | 1 (1.6) | 3 (1.4) | 1 1.1 (0.1–11.2) |
| Hyperechogenicity | 23 (13.0) | 22 (4.3) | 0.0002 3.3 (1.8–6.1) | 21 (18.1) | 20 (6.7) | 0.0008 3.1 (1.6–6.0) | 2 (3.3) | 2 (1.0) | 0.2 3.5 (0.5–25.4) |
| Renal cysts | 136 (76.8) | 314 (61.7) | 0.0002 2.1 (1.4–3.0) | 93 (80.2) | 190 (63.3) | 0.001 2.3 (1.4–3.9) | 43 (70.5) | 124 (59.3) | 0.1 1.6 (0.9–3.0) |
| Hypoplasia | 21 (11.9) | 24 (4.7) | 0.002 2.7 (1.5–5.0) | 6 (5.2) | 16 (5.3) | 1 1.0 (0.4–2.5) | 15 (24.6) | 8 (3.8) | ≤0.0001 8.2 (3.3–20.5) |
| Multicystic and dysplastic kidney | 6 (3.4) | 26 (5.1) | 0.4 0.7 (0.3–1.6) | 6 (5.2) | 25 (8.3) | 0.3 0.6 (0.2–1.5) | 0 | 1 (0.5) | 1 0 (0–65.1) |
| Urinary tract malformations | 19 (10.7) | 52 (10.2) | 0.9 1.1 (0.6–1.8) | 13 (11.2) | 29 (9.7) | 0.7 1.2 (0.6–2.4) | 6 (9.8) | 23 (11.0) | 1 0.9 (0.3–2.3) |
| Solitary kidney | 14 (7.9) | 54 (10.6) | 0.4 0.7 (0.4–1.3) | 6 (5.2) | 21 (7) | 0.7 0.7 (0.3–1.8) | 8 (13.1) | 33 (15.8) | 1 0.8 (0.4–1.8) |
| Glomerular cysts or oligomeganephronia on biopsy | 4 (2.3) | 10 (2.0) | 0.8 1.2 (0.4–3.7) | 2 (1.7) | 8 (2.7) | 0.7 0.6 (0.1–3.1) | 2 (3.3) | 2 (1.0) | 0.2 3.5 (0.5–25.4) |
| Pancreas phenotype Diabetes with age of onset ≤35 years | 60 (33.9) | 59 (11.6) | ≤0.0001 3.9 (2.6–5.9) | 26 (22.4) | 25 (8.3) | 0.0002 3.2 (1.7–5.8) | 34 (55.7) | 34 (16.3) | «b>0.0001 6.5 (3.5–12.1) |
| Hypoplasia or exocrine failure | 7 (4.0) | 1 (0.2) | 0.0004 20.7 (2.5–169) | 1 (0.9) | 0 | 0.3 − | 6 (9.8) | 1 (0.5) | 0.0006 22.7 (2.7–192) |
| Other features | |||||||||
| Family history | 64 (36.2) | 184 (36.1) | 1 1.0 (0.7–1.4) | 36 (31.0) | 76 (25.3) | 0.3 1.3 (0.8–2.1) | 28 (45.9) | 108 (51.7) | 0.5 0.8 (0.4–1.4) |
| Genital tract malformations | 9 (5.1) | 16 (3.1) | 0.2 1.7 (0.7–3.8) | 1 (0.9) | 8 (2.7) | 0.5 0.3 (0.04–2.6) | 8 (13.1) | 8 (3.8) | 0.01 3.8 (1.4–10.6) |
| Liver test abnormalities | 15 (8.5) | 5 (1.0) | ≤0.0001 9.3 (3.3–26.1) | 0 | 2 (0.7) | 1 0 (0–9.0) | 15 (24.6) | 3 (1.4) | ≤0.0001 22.4 (6.2–80.5) |
| Hypomagnesaemia | 11 (6.2) | 7 (1.4) | 0.001 4.8 (1.8–12.5) | 3 (2.6) | 6 (2) | 0.7 1.3 (0.3–5.3) | 8 (13.1) | 1 (0.5) | ≤0.0001 31.4 (3.8–257) |
| Early-onset gout | 3 (1.7) | 13 (2.6) | 0.8 0.7 (0.2–2.3) | 1 (0.9) | 6 (2) | 0.7 0.4 (0.05–3.6) | 2 (3.3) | 7 (3.3) | 1 1.0 (0.2–4.8) |
CI = Confidence interval; HNF1B = hepatocyte nuclear factor 1β; OR = odds ratio.