Differentiaal diagnosen
Tabel 2: Oorzaken van hypofosfatemie
| Serum 1,25 diOHD | TmP/GFR | Urine calcium | Mutatie | |
|---|---|---|---|---|
| FGF23 gemedieerde hypofosfatemie | ||||
| XLH | ↓ | ↓ | ↓ | PHEX |
| ADHR | ↓ | ↓ | ↓ | FGF23 |
| ARHR1 / ARHR2 | ↓ | ↓ | N / ↓ | DMP1,ENPP1 |
| TIO | ↓ | ↓ | N / ↓ | Verworven |
| Mc Cune Albright syndroom | ↓ | ↓ | N | GNAS |
| Niet FGF23 gemedieerde hypofosfatemie | ||||
| Hyperparathyreoïdie | ↑ | ↓ | ↑ | |
| Diuretica / Medicatie | ↓ / N / ↑ | ↑/ N / ↓ | N | |
| Tubulaire disfunctie: | ||||
| – XLRH | ↑ | ↓ | ↑ | CLCN5 |
| – HHRH | ↑ | ↓ | ↑ | SLC34A3 |
| – Fanconi syndroom / ifosfamide toxiciteit | ↑ | ↓ | N / ↑ | |
| Ondervoeding / Dieet / Malabsorptie | ↓ / N / ↑ | ↑ | ↓ | |
| Acute influx van fosfaat in de cellen | ↓ / N / ↑ | ↑ | ↓ | |
Afkortingen: ADHR: autosomal dominant hypophosphatemic rickets; ARHR: autosomal recessive hypophosphatemic rickets; FGF23: fibroblast growth fractor 23; HHRH: hereditary hypophosphatemic rickets with hypercalciuria; 25OHD 25-hydroxyvitamine D: 1,25diOH-vitD 1,25 dihydroxyvitamine D; PHEX: phosphate-regulating endopeptidase homolog X-linked; PTH: parathyroïd hormoon; TIO “tumor induced osteomalacia; TmP/GFR: maximale transport van fosfaat gecorrigeerd voor de glomerulaire filtratie snelheid; XLH: X-linked hypophosphatemia; XLHR: X-linked recessive hypophosphatemia (Dent’s disease).