RESUMEN
At 8 months of age, before clinical neurologic deterioration, the younger of two sisters with metachromatic leukodystrophy received a transplant of bone marrow from her haploidentical, heterozygote mother. Compared with the course in the older, affected, untreated sibling, the onset of neurologic regression was delayed 1 year and progressed at a slower rate.
Asunto(s)
Trasplante de Médula Ósea , Leucodistrofia Metacromática/terapia , Encéfalo/patología , Potenciales Evocados Auditivos del Tronco Encefálico , Femenino , Heterocigoto , Humanos , Lactante , Leucodistrofia Metacromática/diagnóstico , Leucodistrofia Metacromática/genética , Leucodistrofia Metacromática/fisiopatología , Imagen por Resonancia Magnética , Fenotipo , Inducción de Remisión , Factores de Tiempo , Resultado del TratamientoRESUMEN
An infant with recurrent purpura fulminans in the first year of life was found to have severe homozygous deficiency of protein C (less than 1% of normal levels). The episodes of purpura fulminans were controlled by infusions of fresh frozen plasma containing protein C. The requirement of frequent plasma infusions, however, eventually resulted in several complications secondary to hyperproteinemia. Factor IX concentrates rich in protein C were then given to maintain adequate levels of the factor while minimizing the amount of extraneous proteins. The patient has remained asymptomatic and free of complications for greater than 10 months while receiving these concentrates every 48 hours.
Asunto(s)
Proteínas Sanguíneas/deficiencia , Glicoproteínas/deficiencia , Deficiencia de Proteína/terapia , Factores de Coagulación Sanguínea/uso terapéutico , Factor IX/uso terapéutico , Femenino , Heparina/uso terapéutico , Humanos , Recién Nacido , Linaje , Proteína C , Deficiencia de Proteína/complicaciones , Deficiencia de Proteína/tratamiento farmacológico , Deficiencia de Proteína/etiología , Deficiencia de Proteína/genética , Enfermedades de la Piel/etiología , Trombosis/etiologíaRESUMEN
Responses of physicians and parents to New York State-mandated newborn screening for sickle cell disease were solicited and evaluated. The index group comprised 25 infants born in western upstate New York. Each was found to have either sickle cell disease, hemoglobin SC disease, sickle beta-thalassemia, or hemoglobin C disease. In nondirective interviews the following factors were assessed: clinical course, the physician's policies of disease treatment and family counseling, the parents' reactions to the diagnosis and their level of understanding and compliance with medical recommendations, and the physicians' and parents' views on newborn screening. Newborn screening for sickle hemoglobin makes early prophylaxis and prompt treatment possible. Some morbidity may have been averted, judging from parental understanding of medical needs. Parents and physicians agreed that newborn screening for hemoglobinopathies is a valuable public health program. Suggestions for improving the New York state program included a need to increase communication among the screening laboratory, the hospital, and the physician; encouraging physicians to educate parents more fully, provide genetic counseling, and test parents and siblings of the identified neonate; and, most important, provide a well-delineated mechanism for follow-up of every infant with a potentially symptomatic hemoglobinopathy.