Rivista di formazione e aggiornamento professionale del pediatra e del medico di base, fondata nel 1982. In collaborazione con l'Associazione Culturale Pediatri.
Login Abbonamenti Pubblicazioni Carrello Registrazione Perché registrarsi? Contatti

Percorsi clinici

PDF

Una bambina con scarsa crescita e segni clinici di rachitismo all’età di 2 anni

A GIRL SHOWING CLINICAL FEATURE TYPICAL OF RICKETS AT THE AGE OF TWO

Serena Pastore, Federico Marchetti

Clinica Pediatrica, IRCCS “Burlo Garofolo”, Università di Trieste

Maggio 2011 - pagg. 301 -305

Abstract
This work describes the case of a 5-year-old girl who started showing clinical features typical of rickets at the age of 2. Nutritional deficiency rickets was diagnosed although vitamin D implementation therapy did not sort any improving effect. A presentation of rickets in the 2nd year of life should suggest a rarer cause of the disorder than deficiency. Our case suggests considering a complete review of the differential diagnosis when in doubt and allows us to learn the “rules of thumbs” and to understand the basis of therapy.
Bibliografia

• Assadi F. Hypophosphatemia. An evidencebased problem solving approach to clinical cases. Iran J Kidney Dis 2010;4:195-201.
• Berndt TJ, Kumar R. Phosphatonins and the regulation of phosphate homeostasis. Ann Rev Physiol 2007;69:341-59.
• Bettinelli A, Bianchi ML, Mazzucchi E. Acute effects of calcitriol and phosphate salts on mineral metabolism in children with hypophosphatemic rickets. J Pediatr 1991;118: 372-6.
• Carpenter TO. New perspectives on the biology and treatment of X-linked hypophosphatemic rickets. Pediatr Clin North Am 1997; 44:443-66.
• Jehan F, Gaucher C, Nguyen TM, et al. Vitamin D receptor genotype in hypophosphatemic rickets as a predictor of growth and response to treatment. J Clin Endocrinol Metab 2008;93:4672-82.
• Jonsson KB, Zahradnik R, Larsson T, et al. Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia. N Engl J Med 2003;348:1656-63.
• Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Nelson’s Textbook of Pediatrics. 18° ed., Elsevier Ed, 2007:1240-54.
• Schmitt CP, Mehs O. The enigma of hyperparathyroidism in hypophosphatemic rickets. Pediatr Nephrol 2004;19:473-7.
• Tenenhouse HS, Murer H. Disorders of renal tubular phosphate transport. J Am Soc Nephrol 2003;14:240-8.

Corrispondenza: pastore_serena@libero.it