ABSTRACT
BACKGROUND: The significance of H63D homozygosity remains uncertain, although it is associated with a tendency for patients to develop iron overload. AIMS: To study the prevalence of homozygotic H63D mutation in patients with phenotypic hemochromatosis (PH) and to compare the results with those of the general population and with patients with porphyria cutanea tarda (PCT) in the Basque Country, Spain. A secondary aim was to evaluate the differences in phenotypic expression and liver injury according to different genotypes in the PH cohort. METHODS: Mutations of the HFE gene were obtained by polymerase chain reaction (PCR). Forty consecutive patients diagnosed with PH, 116 controls and 54 patients with PCT were included in the study. We performed liver biopsies, measured liver iron concentration (LIC), by atomic spectrophotometry, serum ferritin and transferrin saturation, and compared the histology according to the genotype. RESULTS: The H63D homozygote mutation was identified in 7.76% of the control group, in 7.50% of the PH group, and in 11.11% of patients with PCT (P > 0.05). The C282Y/C282Y mutation was present in 50% of patients with PH, and LIC was identified in 15/20. The LIC in C282Y/C282Y patients was higher than in H63D/H63D patients (P = 0.26), while H63D homozygosis caused greater iron overload in PH patients than other genotypes. All the C282Y/C282Y genotype patients had elevated serum ferritin and transferrin saturation. The H63D homozygotes had high ferritin, but two out of three had normal transferrin saturation. Six of the eight patients with high-grade fibrosis and genetic study results were found to be C282Y/C282Y. CONCLUSIONS: The prevalence of H63D mutation in patients with PH in our region does not differ from that of the general Basque population.
Subject(s)
Hemochromatosis/genetics , Histocompatibility Antigens Class I/genetics , Homozygote , Liver/metabolism , Membrane Proteins/genetics , Mutation , White People/genetics , Adult , Aged , Aged, 80 and over , Biopsy , Female , Ferritins/blood , Gene Frequency , Genetic Predisposition to Disease , Hemochromatosis/blood , Hemochromatosis/ethnology , Hemochromatosis Protein , Humans , Iron/metabolism , Liver/pathology , Male , Middle Aged , Phenotype , Polymerase Chain Reaction , Porphyria Cutanea Tarda/blood , Porphyria Cutanea Tarda/ethnology , Porphyria Cutanea Tarda/genetics , Retrospective Studies , Spain/epidemiology , Spectrophotometry, Atomic , Transferrin/metabolismABSTRACT
OBJETIVO: Describir las características de las manifestaciones oculares de los pacientes diagnosticados con el virus de la inmunodeficiencia humana (VIH) antes y después de implementar el tratamiento antirretroviral de gran actividad (Tárga). MATERIAL Y MÉTODOS: Se realizó un estudio descriptivo, retrospectivo y observacional en los pacientes seropositivos para el VIH en el Servicio de Oftalmología del Hospital Nacional Arzobispo Loayza de Lima, entre 1995 y 2008. RESULTADOS: Se evaluaron 584 historias clínicas: 421 pacientes del período 1995-2003 (pre Targa, pre- T) y 163 del período 2004-2008 (Targa, T). La edad promedio en pre-T fue de 24 años y en T fue de 29 años. En pre- T, 271 pacientes fueron varones y 150 mujeres. En T, 107 fueron varones y 56 mujeres. En cuanto a Los factores de riesgo, en pre-T: 82 homosexuales, 42 trabajadoras sexuales, 80 bisexuales y 217 no determinados. En T: 93 homosexuales, 2 heterosexuales y 68 no determinados. En pre-T: 342, (81 por ciento) hicieron compromiso ocular y en T: 145 (89 por ciento). El compromiso ocular más frecuente en ambos períodos fue la retinitis por citomegalovirus (CMV), 39 por ciento en pre T y 32 por ciento en T. La microangiopatía retinal no infecciosa 29 por ciento, en pre T y 3 por cienot en T. En este grupo se encontró microangiopatía conjuntival 15 por ciento, blefaritis 6 por ciento y chalazion 0,6 por ciento. Con menor frecuencia para ambos grupos se presentaron la criptococosis y la toxoplasmosis ocular. En T se observó disminución progresiva de la frecuencia de retinitis por CMV: 16 casos en 2004 hasta 3 en 2008. CONCLUSIONES: La frecuencia de manifestaciones oculares en pacientes, VIH positivos ha disminuido en la era Targa. Los agentes causales siguen siendo los mismos.
OBJECTIVE: To describe the ocular characteristics of the HIN patients pre and post highly active antiretroviral treatment (HAART). MATERIAL AND METHODS: It was carried out a descriptive, retrospective and observational study of the HN patients that attended to the Ophthalmology Service of the Hospital Nacional Arzobispo Loayza of Lima, between 1995 and 2008. RESULTS: A total of 584 clínical records were included: 421 patients of the period 1995-2003 (pre-HAART period) and 163 of the period 2004-2008 (HAART period). Mean age were 24 and 29 year old age, respectively. In the former group, 271 male and 150 women, and in the latter group, 107 male and 56 women. And, for risk factors, in the pre-HAART- homosexual 82, prostitutes 42, bisexual, 80 and not determined 217; and, in the HAART group: homosexual 93, heterosexual 2, not determined 68. Ocular involvement was present in 81 per cent and 89 per cent, respectively. CMV retinitis was the most frequent involvement in both groups, 39 per cent and 32 per cent, respectively. Non infectious retinal microangiopathy 29 per cent in pre HAART group and 3 per cent in the other. In the latter, it was found conjunctival microangiopathy 15 per cent, blepharitis, 6 per cent and chalazion 0,6 per cent. Ocular cryptococosis and toxoplasmosis were found with less frequency. In the HAART group a diminished frequency of CMV retinitis was observed: 16 cases in 2004 and only 3 in 2008. Conclusions: The frequency of ocular involvement in the HN patients has diminished during the HAART periodo The causative agents are stíll being the same as the pre HAART period.
