RESUMEN
Restriction endonucleases were used to show the excretion of an identical strain of cytomegalovirus (CMV) by two brothers over a 2 1/2-yr period. The same enzymes were used to show that the younger brother, case report, excreted an adenovirus over at least a 3-mo period. We are unable to determine the contribution of each virus to this child's clinical picture; however, this is the first report of a prolonged excretion of an adenovirus associated with CMV excretion in an immunocompetent host.
Asunto(s)
Adenovirus Humanos/aislamiento & purificación , Infecciones por Citomegalovirus/genética , Citomegalovirus/aislamiento & purificación , Adenovirus Humanos/genética , Preescolar , Enzimas de Restricción del ADN , ADN Viral/análisis , Femenino , Estudios de Seguimiento , Humanos , Lactante , Masculino , Orina/microbiologíaRESUMEN
Eighteen males, 17 of whom were members of a single family, affected with angiokeratoma corporis diffusum were examined in detail to determine the extent of clinical variation of the expression of what was almost certainly the same X-linked mutation in each. The commonest symptom was episodic bouts of severe, painful dysaesthesia in hands and feet. This was a major complaint of 12, a minor complaint of 5, and absent in 1. In over half the subjects, the skin rash that is considered a characteristic sign of the disease was absent or inconspicuous. All exhibited mild clubbing of fingers and toes, and 15 showed variable limitation of active and passive extension of the 5th fingers bilaterally. Only 2 (age 36 and 47) had evidence of significant renal disease. Electrocardiograms showed abnormally short PR intervals in 4, and right ventricular conduction disturbances in 5. Echocardiograms on 9 showed no evidence of myocardial dysfunction. The marked variation of the expression of some features of the disease indicates that the clinical expression of the mutation is likely to be subject to considerable genetic or environmental modification in each individual.
Asunto(s)
Enfermedad de Fabry/genética , Adolescente , Adulto , Angioqueratoma , Niño , Preescolar , Córnea/patología , Ecocardiografía , Electrocardiografía , Enfermedad de Fabry/metabolismo , Enfermedad de Fabry/patología , Dedos/anomalías , Humanos , Masculino , Persona de Mediana Edad , Nueva Escocia , Linaje , Dedos del Pie/anomalíasRESUMEN
Heterozygote detection for angiokeratoma corporis diffusum (Anderson-Fabry disease, ACD), an X-linked disorder of glycosphingolipid metabolism was examined using alpha-galactosidase activity, an alpha-galactosidase/beta-galactosidase activity ratios (alpha/beta ratio) in leucocytes, plasma, and hair follicles; For leucocytes, 22 obligate heterozygotes, 25 suspected heterozygotes, and 47 control subjects were studied, while for plasma, the groups were 17 obligate heterozygotes and 35 controls. The alpha/beta ratio in plasma and leucocytes was clearly a better discriminator between obligate heterozygotes and controls than alpha-galactosidase activity alone, but still failed to detect 3 obligates with leucocytes and 2 with plasma. Discrimination was not improved by joint use of plasma and leucocyte alpha/beta ratios, but was improved by measurement of hair-follicle alpha/beta ratios. The interdecile range of log (alpha-galactosidase/beta-galactosidase activity) in 20 hair follicles from each of 4 obligate and 7 suspected heterozygotes was clearly different from 11 control subjects. Accordingly, for rapid screening for carriers of ACD, we recommend use of leucocyte or plasma alpha/beta ratios which should detect greater than 85% of heterozygotes. When results are equivocal, and ancillary information suggests heterozygous status, the more time-consuming measurement of hair-follicle alpha/beta ratios is a useful additional test.