Is just enzyme replacement therapy enough for Fabry disease treatment? Have we missed a trick? / ¿Es suficiente la terapia enzimática para tratar la enfermedad de Fabry? ¿Nos falta algún detalle?

Background and aim: In Fabry disease (FD), primary factors such as glycosphingolipid deposition that initiate kidney damage and secondary factors that advance kidney damage to fibrosis are different. Periostin is a molecule of proven importance in renal inflammation and fibrosis. It was previously shown that periostin plays an essential role in the process leading to renal fibrosis and its expression is increased in many kidney diseases. In the present study, we aimed to reveal the relationship between periostin and Fabry nephropathy. Material-method: This cross-sectional study included 18 FD patients (10 males, 8 females) with enzyme replacement therapy (ERT) indications and 22 healthy control patients of similar age and gender. At the time of diagnosis, plasma alpha-galactosidase A (α-gal-A) and globotriaosylsphingosine (lyso-Gb3), proteinuria, and kidney function tests of all FD patients before ERT were scanned from the hospital system. Periostin was studied from serum samples collected and stored before ERT. Parameters related to serum periostin levels in Fabry disease were investigated. Results: In FD patients, serum periostin was negatively correlated with age of first symptom and GFR; and positively correlated with proteinuria and lyso-Gb3. In regression analysis, we found that serum periostin was the only independent determinant of proteinuria in patients with Fabry disease. The serum periostin levels were significantly lower in patients with low proteinuria, and the serum periostin levels were correlated with proteinuria. Discussion: Periostin may be a valuable marker of Fabry nephropathy and proteinuria. Periostin seems to be one of the molecules that may have an important role in the management of the fibrotic process in Fabry nephropathy. We think that the role of periostin among these mechanisms is worth investigating... (AU)

Antecedente y objetivo: En la enfermedad de Fabry (EF), son diferentes los factores primarios tales como el depósito de glicoesfingolípidos que inicia el daño renal, y los factores secundarios que progresan de daño renal a fibrosis. Periostina es una molécula de importancia probada en la inflamación renal y la fibrosis. Se ha demostrado previamente que periostina juega un papel esencial en el proceso que causa la fibrosis renal, y que su expresión se incrementa en muchas enfermedades renales. En el presente estudio, nuestro objetivo fue revelar la relación entre la periostina y la nefropatía de Fabry. Material y método: Este estudio transversal incluyó 18 pacientes con EF (10 varones y 8 mujeres) con indicación de terapia enzimática (ERT) y 22 controles sanos con edad y sexo similares. En el momento del diagnóstico se escanearon del sistema hospitalario las pruebas de alfa-galactosidasa A (α-gal-A) plasmática y globotriaosilsfingosina (lyso-Gb3), proteinuria y función renal de todos los pacientes con EF antes de la ERT. Se analizó el nivel de periostina en las muestras séricas recogidas y almacenadas antes de realizar la ERT. Se investigaron los parámetros relacionados con los niveles séricos de periostina en la enfermedad de Fabry. Resultados: En los pacientes con EF, el nivel de periostina sérica se correlacionó negativamente con la edad del primer síntoma y la GFR, y positivamente con proteinuria y lyso-Gb3. En el análisis de regresión, encontramos que el nivel de periostina sérico fue el único determinante independiente de proteinuria en los pacientes con EF. Los niveles séricos de periostina fueron significativamente menores en los pacientes con baja proteinuria, correlacionándose los niveles séricos de periostina con proteinuria. Discusión: La periostina puede ser un marcador valioso de nefropatìa de Fabry y proteinuria.... (AU)

Investigation of the association between glaucoma and Helicobacter pylori infection using the 14C-urea breath test / Investigação de associação entre glaucoma e infecção pelo Helicobacter pylori pelo teste respiratório da ureia 14C

ABSTRACTPurpose:To investigate the association between glaucoma and Helicobacter pylori infection by evaluating for the presence of H. pylori infection in patients with glaucoma using the 14C-urea breath test (14C-UBT).Methods:Using 14C-UBT, H. pylori infection positivity was compared between a group of patients with primary open-angle glaucoma and a control group with normal intraocular pressure and a normal optic disc or normal perimetry.Results:The 14C-UBT was positive in 18 (51.42%) out of 35 patients in the glaucoma group and in 15 (42.85%) out of 35 patients in the control group. H. pylori infection positivity rates were similar between the glaucoma and control groups (p>0.05).Conclusion:According to the 14C-UBT, there is no association between primary open-angle glaucoma and H. pylori infection.

RESUMOObjetivo:Investigar a associação entre glaucoma e infecção por H. pyloripor meio do teste para a presença de infecção por H. pylori em pacientes com glaucoma usando o teste de respiração da ureia 14C (14C-UBT).Métodos:Foi feita uma comparação em relação a positividade H. pyloriutilizando 14C-UBT entre um grupo de pacientes com glaucoma primário de ângulo aberto e um grupo controle com pressão intraocular normal e sem verificação de disco óptico glaucomatosa.Resultados:O 14C-UBT foi positivo em 18 (51,42%) dos 35 pacientes no grupo de glaucoma e em 15 (42,85%) dos 35 pacientes no grupo de controle. As taxas de positividade foram semelhantes entre os grupos de glaucoma e de controle e não houve diferença significativa entre os grupos (p>0,05).Conclusão:De acordo com o 14C-UBT, não há associação entre o glaucoma primário de ângulo aberto e H. pylori.