A presumptive new locus for autosomal dominant hypercholesterolemia mapping to 8q24.22

  • Cenarro A
  • García-Otín A
  • Tejedor M
 et al. 
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A 7-year-old Mexican boy with end-stage cirrhosis under-went liver transplantation and was maintained with cyclosporine and prednisolone. No specific data about Toxoplasma gondii or cytomegalovirus (CMV) infections in the cadaver donor were availa-ble. The recipient was seronegative forToxoplasma, but CMV-IgG positive before transplantation. Ganciclovir was administered for prophylaxis during 3 months, but 5 months later he presented with icterus and increased transaminases. Acute transplant rejection was ruled out by biopsy. A seroconversion forT. gondii IgM and IgG and a small increase in CMV-IgM antibodies were observed, although the CMV-polymerase chain reaction (PCR) was negative. Ganciclovir was re-started, and the patient improved, but 6 months later he relapsed, and chorioretinitis lesions compatible both withT. gondii and CMV infections appeared. Pyrimethamine, sulfadiazine, folinic acid, and ganciclovir were administered. The boy showed favorable clinical improvement and remained stable for 12 months. Then, new retinal CMV lesions appeared in both eyes and the PCR for CMV became positive; therefore, the patient received a new regimen of ganciclovir, and clinically improved. From these data we concluded that the child presented a reactivation of CMVand a primary infec-tion withT. gondii after transplantion. Toxoplasmosis is an infection caused by the protozoan Toxoplasma gondii distributed worldwide (1). Acute tox-oplasmosis is asymptomatic and limited in 80% of immunocompetent individuals. In contrast, this infection can be life-threatening for patients with acquired immuno-de¢ciency due to human immunode¢ciency virus infection

Author-supplied keywords

  • Autosomal dominant hypercholesterolemia
  • Genome-wide analysis
  • Haplotype analyses
  • LDL-cholesterol

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