BACKGROUND: Sanfilippo syndrome, or mucopolysaccharidosis (MPS) type III, is a rare lysosomal storage disease, resulting from errors in the catabolism of heparan sulphate. Aim: To evaluate bone turnover and bone mineral density (BMD) in MPS type III patients. DESIGN: Clinical and observational study. METHODS: We evaluated serum markers of bone formation or resorption, and measured BMD using dual-energy X-ray absorptiometry (DEXA), in three patients with MPS type III. RESULTS: Serum vitamin D were low, and BMDs greatly reduced at lumbar and femoral sites, indicating the possibility of osteoporosis and osteomalacia. DISCUSSION: These skeletal effects probably result from nutritional deficiencies and inability to walk, rather than from the genetic defect itself. Secondary skeletal involvement in patients with MPS type III may represent a considerable cause of morbidity, and requires interventions to reduce the risk of pathological fractures.

Rigante, D., Caradonna, P., Secondary skeletal involvement in Sanfilippo syndrome, <<QJM-AN INTERNATIONAL JOURNAL OF MEDICINE>>, 2004; (97(4)): 205-209. [doi:10.1093/qjmed/hch041] [http://hdl.handle.net/10807/3669]

Secondary skeletal involvement in Sanfilippo syndrome

Rigante, Donato;Caradonna, Paolo
2004

Abstract

BACKGROUND: Sanfilippo syndrome, or mucopolysaccharidosis (MPS) type III, is a rare lysosomal storage disease, resulting from errors in the catabolism of heparan sulphate. Aim: To evaluate bone turnover and bone mineral density (BMD) in MPS type III patients. DESIGN: Clinical and observational study. METHODS: We evaluated serum markers of bone formation or resorption, and measured BMD using dual-energy X-ray absorptiometry (DEXA), in three patients with MPS type III. RESULTS: Serum vitamin D were low, and BMDs greatly reduced at lumbar and femoral sites, indicating the possibility of osteoporosis and osteomalacia. DISCUSSION: These skeletal effects probably result from nutritional deficiencies and inability to walk, rather than from the genetic defect itself. Secondary skeletal involvement in patients with MPS type III may represent a considerable cause of morbidity, and requires interventions to reduce the risk of pathological fractures.
Inglese
Rigante, D., Caradonna, P., Secondary skeletal involvement in Sanfilippo syndrome, <<QJM-AN INTERNATIONAL JOURNAL OF MEDICINE>>, 2004; (97(4)): 205-209. [doi:10.1093/qjmed/hch041] [http://hdl.handle.net/10807/3669]
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/3669
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 22
  • ???jsp.display-item.citation.isi??? 19
social impact