Challenges managing end-stage renal disease and kidney transplantation in a child with MTFMT mutation and moyamoya disease.

Abstract excerpt

Moyamoya disease is a chronic cerebrovascular disorder with progressive stenosis. We describe a four-yr-old female with features of moyamoya disease referred to our center for kidney transplant evaluation with ESRD secondary to presumed renal dysplasia along with concern for cerebral vascular anomalies. With her constellation of organ involvement, a genetic workup revealed a homozygous, frameshift mutation in the...

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