title: A case of osteoporosis associated with adenosine deaminase deficiency.
abstract: The authors report a case of early and marked osteoporotic syndrome in a patient affected with adenosine-deaminase deficiency (ADA) of the heterozygotic type. The negative results obtained in all the tests carried out to ascertain any dysmetabolic, nutritional or iatrogenic disease, and the literature reporting homozygotic patients with osteometabolic and skeletal changes similar to those observed in this particular patient, led the authors to suggest a possible pathogenetic role in ADA deficiency. They conclude by describing the mechanisms by which this enzymatic defect could determine the clinical picture, and by presenting a possible type of treatment.
authors.affiliation: Clinica Ortopedica, II Facoltà di Medicina e Chirurgia, Università degli Studi, Napoli.
authors.forename: L
authors.initials: L
authors.lastname: Costa
authors.forename: C
authors.initials: C
authors.lastname: Servodio-Iammarrone
authors.forename: E
authors.initials: E
authors.lastname: Giuzio
authors.forename: S
authors.initials: S
authors.lastname: Gigliotti
authors.forename: G C
authors.initials: GC
authors.lastname: Buccafusca
mesh_terms: D000243:Adenosine Deaminase / Q000172:deficiency*; D000328:Adult; D005260:Female; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000201:enzymology*; D010024:Osteoporosis / Q000000981:diagnostic imaging / Q000201:enzymology* / Q000209:etiology; D011859:Radiography
chemical_list: D000243:Adenosine Deaminase