[Benign familial hyperphosphatasemia. A report of one case and diagnostic considerations]. / Hiperfosfatasemia familiar. Reporte de un caso y consideraciones diagnósticas.

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.

Hiperfosfatasemia familiar. Reporte de un caso y consideraciones diagnósticas / Benign familial hyperphosphatemia. A report of one case and diagnostic considerations

La hiperfosfatasemia benigna familiar es una rara anomalía bioquímica caracterizada por la presencia de niveles persistentemente elevados de fosfatasa alcalina sérica en varios miembros de una misma familia en ausencia de una enfermedad o causa conocida de hiperfosfatasemia. Describimos un caso y discutimos todos los aspectos epidemiológicos, genéticos, patrones isoenzimáticos y significado clínico asociados a esta entidad. Varón de 61 fue remitido a la consulta de enfermedades metabólicas óseas para valoración de lumbalgia y con antecedentes personales de urolitiasis y herniorrafia inguinal. La exploración física y análisis de laboratorio resultaron normales excepto por niveles elevados de fosfatasa alcalina total de 690 UI/l (rango de referencia 40-129 UI/l). El perfil de las isoenzimas era de 50% isoenzima intestinal, 33% isoenzima ósea y 17% de isoenzima hepática. Radiografias y resonancia magnética nuclear de la columna lumbar mostraron signos de espondiloartrosis y la gammagrafía ósea resultó normal en la distribución del radioisótopo. Un año más tarde la bioquímica mostraba niveles similarmente aumentados de fosfatasa alcalina. El estudio familiar encontró que uno de los tres hijos del paciente presentaba el mismo trastorno bioquímico

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

[Posttreatment hypothyroidism in diffuse toxic goiter. A complication or evolution?]. / Hipotiroidismo post tratamiento del bocio tóxico difuso. Complicación o evolución?

Hypothyroidism posttreatment of diffuse toxic goiter (DTG) might depend on both treatment of inherent disease factors. 147 patients afflicted with DTG, with at least 3 years under treatment, were studied to identify these factors. Clinical evaluation was performed and TSH and T4T were measured (RIA). 49% had hypothyroidism, 17% of this percentage having been diagnosed during the study. We found these hypothyroidism protector factors: familiar background of thyroid disease, gap between doses of 131 1 greater than of 8 months and as favoring factor: surgical treatment.