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Síndrome de Fanconi

Definición

Es un trastorno de los túbulos renales en el cual ciertas sustancias normalmente absorbidas en el torrente sanguíneo por los riñones son liberadas en su lugar en la orina.

Causas

El síndrome de Fanconi puede ser causado por genes defectuosos o puede aparecer posteriormente en la vida debido a daño renal. Algunas veces, se desconoce su causa.

En los niños, las causas comunes de este síndrome son variaciones genéticos que afectan la capacidad del cuerpo para descomponer ciertos compuestos, como:

• Cistina (cistinosis)
• Fructosa (intolerancia a la fructosa)
• Galactosa (galactosemia)
• Glucógeno (enfermedades por almacenamiento de glucógeno)

La cistinosis es la causa más común del síndrome de Fanconi en niños.

Otras causas en niños comprenden:

• Exposición a metales pesados como el plomo, el mercurio o el cadmio
• Síndrome de Lowe, un raro trastorno genético de los ojos, el cerebro y los riñones
• Enfermedad de Wilson
• Enfermedad de Dent, un trastorno genético raro de los riñones

En los adultos, el síndrome de Fanconi puede ser causado por diversas cosas que provocan daño a los riñones, como:

• Ciertos medicamentos como azatioprina, cidofovir, gentamicina y tetraciclina
• Trasplante de riñón
• Enfermedad por precipitación de las cadenas ligeras
• Mieloma múltiple
• Amiloidosis primaria

Síntomas

Los síntomas incluyen:

• Eliminar grandes cantidades de orina, lo cual puede llevar a deshidratación
• Sed excesiva
  
• Dolor severo en los huesos
• Fracturas debido a debilidad ósea
• Debilidad muscular
  

Pruebas y exámenes

Los exámenes de laboratorio pueden mostrar que cantidades excesivas de las siguientes sustancias se pueden perder en la orina:

• Aminoácidos
• Bicarbonato
• Glucosa
• Magnesio
• Fosfato
• Potasio
• Sodio
• Ácido úrico

La pérdida de estas sustancias puede conducir a una variedad de problemas. Las pruebas adicionales y un examen físico pueden mostrar signos de:

• Deshidratación debida a micción excesiva
• Retraso en el crecimiento
• Osteomalacia
• Raquitismo
• Acidosis tubular renal tipo 2

Tratamiento

Muchas enfermedades diferentes pueden causar el síndrome de Fanconi. La causa subyacente y sus síntomas se deben tratar en forma apropiada.

Expectativas (pronóstico)

El pronóstico depende de la enfermedad subyacente.

Cuándo contactar a un profesional médico

La persona debe consultar con el médico si presenta deshidratación o debilidad muscular.

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