[Benign familial hyperphosphatasemia. A report of one case and diagnostic considerations]. / Hiperfosfatasemia familiar. Reporte de un caso y consideraciones diagnósticas.
An Med Interna
; 24(8): 387-9, 2007 Aug.
Article
em Es
| MEDLINE
| ID: mdl-18020879
ABSTRACT
Benign familial hyperphosphatasemia is a rare biochemical abnormality characterized by the presence of persistently elevated levels of serum alkaline phosphatase in several members of the same familiy, in the absence of disease or any known cause of hyperphosphatasemia. We describe one family affected with this biochemical abnormality and the epidemiology, genetic, isoenzymatic patterns and clinical significance of this entity are discussed.A 61-year-old man was referred to the Unit of Metabolic Bone Diseases for investigation of a lumbar pain with a history of urolithiasis and inguinofemoral hernia repair. The results of the physical examination and laboratory analysis were normal except for a high serum alkaline phosphatase level of 690 UI/l (reference range 40-129 UI/l). Isoenzymatic profile showed a 50% of intestinal variant, 33% of bone variant and 17% of liver variant isoenzymes. Skeletal radiographs and lumbar magnetic resonance imaging showed signs of osteoarthritis in the spine, bone scan showed a skeletal distribution of the radioisotope.One year later the biochemical exams showed similar raised levels of alkaline phosphatase. Family investigation revealed that one of the three sons of the patient had the same biochemical disorder.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fosfatase Alcalina
Tipo de estudo:
Diagnostic_studies
/
Observational_studies
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Prognostic_studies
Limite:
Adult
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Humans
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Male
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Middle aged
Idioma:
Es
Revista:
An Med Interna
Assunto da revista:
MEDICINA INTERNA
Ano de publicação:
2007
Tipo de documento:
Article