Aggiornamento
Rachitismo vitamina D-resistente: dalla clinica alla genetica, “andata e ritorno”
Vitamin D-resistant rickets: from clinical examination to genetic investigation. "A round trip"
Giampiero I. Baroncelli1, Benedetta Toschi2, Luisa Cinquanta3, Piera Manfredi4, Aurora Rossodivita5, Angela Michelucci2, Fulvia Baldinotti2, Silvano Bertelloni1
1UO Pediatria I, 2UO Laboratorio di Genetica Medica, Azienda Ospedaliero-Universitaria Pisana, Ospedale “S. Chiara”, Pisa;
3UOC Pediatria, Azienda USL5, Pisa;
4UO Pediatria e Neonatologia, Presidio Ospedaliero, Fidenza;
5Dipartimento di Scienze
Pediatriche Medico Chirurgiche e Neuroscienze dello Sviluppo, Policlinico Universitario “A. Gemelli”, Roma
Febbraio 2013 - pagg. 89 -99
Abstract
The term “vitamin D-resistant rickets” was used to describe a clinical condition which
was indistinguishable from the common rickets except that the signs occurred in spite of
adequate vitamin D treatment. Recent studies showed that vitamin D-resistant rickets is
due to genetic mutations of some enzymes involved in vitamin D activation, metabolism
or action. This may explain why vitamin D treatment is not able to cure patients affected
by these forms of rickets. Indeed, vitamin D metabolites (calcitriol, alfacalcidol) associated
with calcium or phosphate salts according to the pathogenesis of the disease are the
most effective treatments for patients affected by rickets due to genetic mutations. The
evidence of a genetic mutation in a patient with rickets is crucial not only for a correct
diagnosis and treatment, but also for prognosis.
Classificazione MeSH
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Corrispondenza: g.baroncelli@med.unipi.it