RESUMO
The X-chromosome linked (XL) female carriers of chronic granulomatous disease (CGD) are considered to have no risk for infection. Herein we present a female CGD XL-carrier who developed Pneumocystis jirovecii pneumonia and Serratia marcescens infection associated with age-related skewing of X-chromosome inactivation.
RESUMO
Familial Mediterranean fever and beta-thalassaemia are two genetic disorders, with a largely common geographical distribution. However, they have not much else in common, as the first is an autoinflammatory disorder, while the other is a haemoglobinopathy. We describe a patient with known beta-thalassaemia intermedia who presented with recurrent fevers and he was diagnosed with familial Mediterranean fever 2 years later. We discuss whether there is an association between the two disorders and the cognitive biases that lead to the delay in the diagnosis of familial Mediterranean fever.
Assuntos
Febre Familiar do Mediterrâneo/diagnóstico , Febre Recorrente/diagnóstico , Talassemia beta/complicações , Adulto , Colchicina/administração & dosagem , Colchicina/uso terapêutico , Diagnóstico Diferencial , Febre Familiar do Mediterrâneo/tratamento farmacológico , Febre Familiar do Mediterrâneo/genética , Radioisótopos de Gálio/farmacologia , Genótipo , Humanos , Masculino , Mutação , Febre Recorrente/etiologia , Resultado do Tratamento , Moduladores de Tubulina/administração & dosagem , Moduladores de Tubulina/uso terapêutico , Talassemia beta/genéticaRESUMO
Little is known about iron metabolism in skeletal muscle while hepatic iron metabolism is well understood. The aim of this study is to compare the iron metabolism gene expression profile in skeletal muscle and the liver in humans. Muscle and hepatic biopsies from six normal individuals were acquired. Twelve genes involved in iron metabolism( import, storage, export) were selected to be studied. Reverse transcriptase polymerase chain reaction (RT-PCR) was performed in order to determine the expression profile in skeletal muscle and compare it to the one from the liver. Semi-quantification of the gene expression in the studied tissues was performed by densitometric analysis (DA). The results were expressed relative to the percentage of the ß-actin gene. Fine analysis was performed by real-time PCR (q-PCR) quantification for the genes that their expression presented a difference of more than 20% in the 2 tissues in the first applied densitometric analysis. Most of the studied genes, HJV, TFR1, HFE, DMT1, DMT1nonIRE, NGAL, HEPH, IREG1, FTH1 were well expressed (>70% of ß-actin) in skeletal muscle . HAMP, CP, and TFR2 were absent or minimally expressed (<10% of ß-actin) in skeletal muscle while they were well expressed in liver. HJV and Heph were found to have higher expression in skeletal muscle (SM) compared to liver (L) (SM/L=2.65 ± 1.1(p<0.05) and SM/L=1.5 ± 0.06(p<0.05 respectively in q-PCR). The relative expressions of the studied genes in both tissues and their relative contribution in iron homeostasis in different pathways are discussed.