Rodzinna krzywica hipofosfatemiczna – opis przypadku i przegląd literatury

Publication date: Available online 16 June 2015 Source:Pediatria Polska Author(s): Agnieszka Jędzura , Omar Bjanid , Piotr Adamczyk , Krzysztof Plesiński , Karolina Klimaszewska-Adamus , Maria Szczepańska 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. A case of a 23-month-old girl is presented who was admitted to the hospital because of rickets’ signs, which worsened despite vitamin D supplementation. The authors analyzed the diagnosis procedures, and therapy emphasizing the importance of functional tests describing tubular transport of phosphates and discussed the disease entities that result in hypophosphatemic rickets.
Source: Pediatria Polska - Category: Pediatrics Source Type: research