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Identificación de una mutación en la proteína 5 relacionada con el factor H del complemento en pacientes de origen

Daniel P Gale¹, Elena Goicoechea de Jorge, H Terence Cook

¹Division of Medicine, University College, London, UK.

Lancet (London, England)

|August 31, 2010

Resumen

Una mutación en el gen de la proteína 5 relacionada con el factor H del complemento (CFHR5) causa enfermedad renal familiar, denominada nefropatía CFHR5. Esta causa genética de insuficiencia renal es prevalente en los chipriotas y requiere un diagnóstico molecular.

Área de la Ciencia:

Genética La genética.
Inmunología Inmunología.
Nefrología Nefrología.

Sus antecedentes:

Las variaciones del sistema de complemento están relacionadas con las enfermedades renales.
Los trastornos renales familiares a menudo se derivan de causas genéticas que afectan la regulación del complemento.
La hematuria microscópica y la glomerulonefritis pueden indicar una enfermedad renal genética subyacente.

Objetivo del estudio:

Identificar la base genética de un trastorno renal familiar.
Investigar una enfermedad hereditaria caracterizada por hematuria y glomerulonefritis.
Determinar la causa genética de la insuficiencia renal progresiva en familias específicas.

Principales métodos:

Reclutamiento de pacientes de un centro de trasplante renal.
Enlace genómico y análisis de genes candidatos para identificar mutaciones.
Desarrollo de una prueba de diagnóstico basada en PCR para el cribado de mutaciones.

Principales resultados:

Se identificó una mutación del gen CFHR5 que se co-segrega con la enfermedad renal familiar.
Se descubrieron mutaciones CFHR5 en 4 de 84 chipriotas con enfermedad renal inexplicable.
Se encontraron 26 individuos con la mutación CFHR5 en 11 familias, lo que condujo a la identificación de la nefropatía CFHR5.

Conclusiones:

La nefropatía CFHR5 es una causa significativa de enfermedad renal en individuos de origen chipriota.
Una prueba molecular específica puede diagnosticar la nefropatía CFHR5.
La hematuria microscópica o macroscópica recurrente en chipriotas justifica la investigación de las mutaciones CFHR5 debido al alto riesgo de enfermedad renal progresiva.

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