Table 1.
Characteristics of study patients with either an HNF1B intragenic mutation or 17q12 microdeletion
|
HNF1B mutation (n = 18) |
17q12 microdeletion (n = 20) |
P | |
|---|---|---|---|
| Age, yr | 19 (13, 45) | 15.5 (11, 35) | 0.3 |
| Sex | M 8 (44%), F 10 (56%) | M 8 (40%), F 12 (60%) | 1 |
| Ethnicity | White 18 (100%) | White 19 (95%), mixed 1 (5%) | 1 |
| Indices of Deprivation 2007 score | 25 (16, 46) | 21 (12, 30) | 0.4 |
| Renal phenotype | |||
| Renal abnormality | |||
| Cysts/cystic dysplasia | 12 (67%) | 17 (85%) | 0.3 |
| Othera | 4 (22%) | 3 (15%) | |
| Unknown | 2 (11%) | 0 | |
| Age at diagnosis of renal disease, yr | 0 (0, 20) | 0 (0, 24) | 0.7 |
| Renal replacement therapy | 3 (17%) | 1 (5%) | 0.3 |
| GFR, ml/min/1.73 m2 | 42.6 (31, 60) | 81.4 (56, 91) | 0.002 |
| Proteinuriab,c | 2 (13%) | 2 (11%) | 1 |
| Serum magnesium,cmmol/l | 0.7 (0.67, 0.75) | 0.58 (0.53, 0.69) | 0.01 |
| Hypomagnesemiac,d | 6 (40%) | 12 (63%) | 0.3 |
| Hyperuricemiac,e | 10 (67%) | 3 (16%) | 0.004 |
| Gout | 6 (33%) | 2 (10%) | 0.1 |
| Extra-renal phenotype | |||
| Pancreas | |||
| Diabetes | 7 (39%) | 8 (40%) | 1 |
| Age at diagnosis of diabetes | 19 (18, 37) | 29 (17, 32) | 1 |
| Pancreatic hypoplasiaf,g | 1 (6%) | 5 (25%) | 0.2 |
| Fecal elastase, μg/g stool | 402.5 (170, 500) | 280 (167, 433) | 0.8 |
| Genital tract | |||
| Genital tract malformationg,h | 1 (6%) | 2 (10%) | 1 |
| Liver | |||
| Abnormal liver function testsg | 5 (28%) | 6 (30%) | 1 |
Values are median (IQR) or n (%). Bold P-values are statistically significant.
F, female; GFR, glomerular filtration rate; IQR, interquartile range; M, male.
Other renal structural abnormalities included single kidney, collecting system abnormalities, and bilateral hydronephrosis.
Proteinuria defined as albumin-creatinine ratio >30 mg/mmol or protein-creatinine ratio >50 mg/mmol.
Only assessed in individuals with native renal function.
Hypomagnesemia defined as serum magnesium <0.7 mmol/l.
Hyperuricemia defined as serum urate level above upper limit of normal reference range for age and sex from analyzing laboratory.
Hypoplasia of body and/or tail of pancreas.
Not systematically assessed for.
Genital tract malformations included (i) unilateral undescended testicle and blind-ending epididymis, (ii) bilateral undescended testicles, and (iii) bicornuate uterus.