Hipofosfatemia persistente en adultoscausas genéticas y adquiridas

Resumo

Acquired causes are the most common for chronic hypophosphatemia, but genetic causes have also been reported. In Cantabria, the prevalence of these diseases is unknown, suggesting the existence of undiagnosed cases of genetic hypophosphatemia. Electronic charts of 1287 patients with at least one measurement of P2.2 mg/dL were reviewed, 842 from the retrospective arm and 445 from the prospective arm. Finally, 109 patients were assessed in the clinic. A total of 42 patients were included in a genetic study that analysed a panel of 12 genes related to rickets and hypophosphatemia. We found mutations in 9 different genes related to P metabolism in 14 patients (12.8% of the 109). We did not find any cause of hypophosphatemia in 17 patients (1.32%). Genetic causes should be included in the differential diagnosis of persistent hypophosphatemia of unknown origin, which can explain almost 13% of cases in adult patients.