Table 1.
Clinical Characteristics of Genetically Confirmed HHRH Cohort
| Clinical Features | |
|---|---|
| N (male/female) | 12 (5/7) |
| Children, n (%) | 3 (25) |
| Indication for genetic testing, n (%) | |
| Family screening | 1 (8.3) |
| Clinical suspicion | 11 (91.7) |
| Age at first clinical presentation, y | |
| Median (Q1, Q3) | 16.5 (13.8, 35.8) |
| Clinical symptoms at presentation, n (%) | |
| Urinary stone disease | 9 (82) |
| Urinary stone disease and bone fractures | 1 (9) |
| Osteopenia | 1 (9) |
| Imaging study findings at presentation | |
| Urinary stone disease, n (%) | 5 (41.6) |
| Nephrocalcinosis, n (%) | 1 (8.3) |
| Urinary stone disease and nephrocalcinosis, n (%) | 6 (50) |
| Age at confirmed pathogenic variants, y | |
| Median (Q1, Q3) | 42.0 (20.0, 57.3) |
| Variants type, n (%) | |
| Monoallelic | 7 (58.3) |
| Biallelic | 5 (41.7) |
| Presence of kidney cysts, n (%) | |
| Yes | 9 (75) |
| No | 3 (25) |
| Age at first kidney cyst(s) detection, y | |
| Median (Q1, Q3) | 41 (13.0, 50.5) |
| No. of total kidney cysts per patienta | |
| Median (Q1, Q3) | 2.0 (0.5, 3.5) |
| Largest cyst size, mm | |
| Median (Q1, Q3) | 20.0 (9.0, 30.0) |
| No. of cysts ≥ 5 mm | |
| Median (Q1, Q3) | 2.0 (0.5, 3.5) |
Abbreviation: HHRH, hypophosphatemic rickets and hypercalciuria.
a
Preference was given to the last available imaging study.