Asunto(s)

Glicerol Quinasa/deficiencia , Proteínas Musculares/análisis , Músculos/patología , Distrofias Musculares/genética , Fosfotransferasas/deficiencia , Biopsia , Sondas de ADN , Distrofina , Humanos , Lactante , Recién Nacido , Masculino , Distrofias Musculares/diagnóstico , Distrofias Musculares/patología

RESUMEN

Three children ranging from seven to 12 years of age from unrelated families were given long-term anticonvulsant therapy including acetazolamide (Diamox). These children had rickets and renal tubular acidosis. Investigations have suggested (1) secondary hyperparathyroidism due to hypocalcemia of rickets and (2) prolonged acetazolamide therapy were responsible for acidosis as a result of reduction of bicarbonate reabsorption in the kidney. A clear-cut recovery from acidosis and rickets was seen in two patients following medication with high doses of vitamin D, an oral supplement of phosphorus, and discontinuance of acetazolamide therapy.

Asunto(s)

Acidosis Tubular Renal/inducido químicamente , Anticonvulsivantes/efectos adversos , Raquitismo/inducido químicamente , Acetazolamida/efectos adversos , Acetazolamida/uso terapéutico , Cloruro de Amonio , Bicarbonatos/sangre , Huesos/diagnóstico por imagen , Calcio , Niño , Femenino , Gluconatos , Mano/diagnóstico por imagen , Humanos , Concentración de Iones de Hidrógeno , Hiperparatiroidismo Secundario/diagnóstico , Hipoglucemia/tratamiento farmacológico , Pruebas de Función Renal , Masculino , Fosfatos/uso terapéutico , Radiografía , Raquitismo/tratamiento farmacológico , Vitamina D/uso terapéutico , Muñeca/diagnóstico por imagen