Table 2.
Clinical characteristics of the examined patients diagnosed with hypophosphatemic rickets.
Patient | Clinical Symptoms | Medical Interview | Genetic Study/Mutation | Treatment | ||||||
---|---|---|---|---|---|---|---|---|---|---|
Varus Deformity of the Lower Limbs |
Other bone Deformities | Gait Disturbances | Bone Pain | Fractures | Short Stature | Pharmacological | Surgery | |||
P1 | Yes | Yes (deformations of the rib arches) |
Yes | No | No | Yes | Negative | Not performed | Yes | Yes |
P2 | Yes | Yes (lumbal hyperlordosis) | Yes | No | No | No | Negative | Not performed | Yes | Yes |
P3 | Yes | No | No | No | No | No | Positive -hypophosphatemic rickets/brother |
Positive-PHEX gene mutation | Yes | No |
P4 | Yes | Yes (deformations of the rib arches) |
No | No | No | No | Positive-hypophosphatemic rickets/brother | Positive-PHEX gene mutation | Yes | No |
P5 | Yes | No | No | Yes | No | Yes | Positive-hypophosphatemic rickets/mother | Positive-PHEX gene mutation | Yes | No |
P6 | Yes | No | Yes | No | No | Yes | Negative | Positive-PHEX gene mutation | Yes | No |
P7 | Yes | Yes (deformations of the rib arches) | Yes | Yes | No | Yes | Negative | Positive-PHEX gene mutation | Yes | Yes |
P8 | Yes | No | No | No | No | No | Negative | Pending | Yes | No |
P9 | Yes | No | No | No | Yes | Yes | Positive-hypophosphatemic rickets/mother and grandmother | Positive-PHEX gene mutation | Yes | No |
P10 | Yes | No | No | No | No | No | Positive-hypophosphatemic rickets/mother | Pending | Yes | No |
P11 | Yes | No | No | Yes | No | Yes | Negative | Positive-PHEX gene mutation | Yes | No |
P12 | Yes | Yes (scoliosis) | No | Yes | No | No | Negative | Positive-PHEX gene mutation | Yes | No |