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)

Overlooked factor in the etiology of pruritus in hemodialysis patients: Ultrafiltration volume.

INTRODUCTION: This study investigated the relationship between ultrafiltration (UF) volume and pruritus severity based on the idea that skin perfusion and inflammatory changes occur in dialysis patients with high UF volume. MATERIALS AND METHODS: This observational study included 392 patients. Patients filled out the Numerical Rating Scale, Verbal Rating Scale, and Visual Analogue Scale, showing the severity of pruritis. UF volumes in the last 12 sessions were recorded and averaged. RESULTS: The rate of patients with pruritis was between 59.4% and 67.5% in the three scales. In three pruritis scales, the severity of pruritis, age, body mass index (BMI), UF volume, and UF volume/body weight ratio were positively correlated. UF volume/body weight ratio, age, and BMI were independent predictors of pruritis severity. CONCLUSION: Limiting interdialytic weight gain may be an important treatment approach in pruritus control.

Tonic-Clonic Seizure in Patient With SLE: Posterior Reversible Encephalopathy Syndrome, or a Neuropsychiatric Manifestation of SLE?

Posterior reversible encephalopathy syndrome (PRES) is a clinically and radiologically diagnosed reversible sudden onset disease with many neurological symptoms. SLE is the most common cause of PRES among autoimmune diseases. Many factors, such as SLE activity, hypertension, hematological and renal diseases, lymphopenia dyslipidemia, and immunosuppressive treatments, can trigger PRES in SLE. We wanted to draw attention to the difference between neuropsychiatric systemic lupus erythematosus (SLE) and PRES in a patient with SLE and the triggers for developing PRES in SLE by presenting a hypertensive patient on immunosuppressive therapy who had just started haemodialysis treatment and had generalised tonic-clonic seizures.

Unknown criminals for kidney: Acute interstitial nephritis due to lavender tea.

INTRODUCTION: Spanish Lavender is an herbal from the lavender family and is widely used among people for the belief that it cures various diseases. Acute interstitial nephritis (AIN) is one of the common causes of acute kidney injury (AKI). Although drugs are the most common cause of AIN, the frequency of reporting AIN cases due to various herbals has been increasing in recent years. CASE PRESENTATION: We present a 24-year-old male patient who developed AKI after consuming Spanish lavender tea to treat upper respiratory tract infection symptoms and was diagnosed with AIN. AIM AND DISCUSSION: With this case report, we wanted to explain the fact that medicinal herbs, which are used frequently and carelessly today, can have serious consequences, as in acute interstitial nephritis associated with Spanish lavender.

Is just enzyme replacement therapy enough for Fabry disease treatment? Have we missed a trick?

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. In addition to standard ERTs, periostin-reducing therapies may contribute to better kidney survival in Fabry disease. Progressive fibrosis processes caused by periostin in patients with Fabry disease are still a hidden issue waiting to be clarified. Progressive fibrosis processes caused by periostin in Fabry patients are still a hidden issue waiting to be clarified.