Rodzinna krzywica hipofosfatemiczna – opis przypadku i przegląd literatury

Rickets comes under one of the complex of clinical symptoms and biochemical abnormalities associated with impaired bone mineralization in early childhood. The most common cause of rickets is because of vitamin D deficiency. Nonetheless, rickets’ symptoms can develop even if the vitamin D supplementation is administered properly, e.g. as the result of primary defects of phosphate transport in renal tubules. This group of disorders are classified as hypophosphatemic rickets. Early diagnosis of hypophosphatemic rickets allows the implementation of a treatment that prevents the inhibition of growth and reduces the skeletal deformation.