Epidemiology of Fabry disease in patients in hemodialysis in the Madrid community / Epidemiología de la enfermedad de Fabry en pacientes en hemodiálisis de la Comunidad de Madrid

This study screened for Fabry disease (FD) in patients in hemodialysis (HD) in the region of Madrid (CAM) with a cross-sectional design to evaluate HD-prevalent patients, followed by a three-year period prospective design to analyze HD-incident patients. Inclusion criteria: patients older than 18 years on HD in the CAM, excluding patients diagnosed with any other hereditary disease with renal involvement different from FD, that sign the Informed Consent (IC). Exclusion criteria: underaged patients or not agreeing or not being capable of signing the IC. Results: 3470 patients were included, 63% males and with an average age of 67.9±9.7 years. 2357 were HD-prevalent patients and 1113 HD-incident patients. For HD-prevalent patients, average time in HD was 45.2 months (SD 51.3), in HD-incident patients proteinuria was present in 28.4%. There were no statistical differences in plasmatic alpha-galactosidase A (α-GAL-A) activity or Lyso-GL-3 values when comparing HD-prevalent and HD-incident populations and neither between males and females. A genetic study was performed in 87 patients (2.5% of patients): 60 male patients with decreased enzymatic activity and 27 female patients either with a decreased GLA activity, increased Lyso-Gl3 levels or both. The genetic variants identified were: p.Asp313Tyr (4 patients), p.Arg220Gln (3 patients) and M290I (1 patient). None of the identified variants is pathogenic. Conclusions: 76% of HD Centers of the CAM participated in the study. This is the first publication to describe the prevalence of FD in the HD-population of a region of Spain as well as its average α-GAL-A-activity and plasmatic Lyso-Gl3 levels. It is also the first study that combines a cross-sectional design with a prospective follow-up design. This study has not identified any FD patient. (AU)

El objetivo del estudio ha sido realizar un mapa descriptivo de la enfermedad de Fabry (EF) en la Comunidad de Madrid, así como realizar un despistaje de la EF a todo paciente incidente durante un período de 3 años. Criterios de inclusión: Pacientes mayores de 18 años, excluyendo aquellos diagnosticados de cualquier otra enfermedad hereditaria con afectación renal diferente de la EF, que firmaran el consentimiento informado. Criterios de exclusión: pacientes menores de edad, no estar de acuerdo o no ser capaces de firmar el consentimiento informado. Resultados: Se incluyeron 3.470 pacientes (63% hombres), con una edad media de 67,9±9,7 años, de los cuales 2.357 eran pacientes prevalentes y 1.113 incidentes. En el caso de los pacientes prevalentes, el tiempo medio en hemodiálisis (HD) fue de 45,2 (DE 51,3) meses. En pacientes incidentes, la proteinuria estuvo presente en el 28,4%. No hubo diferencias estadísticamente significativas en la actividad plasmática de alfa-galactosidasa A o valores de Lyso-Gl3 al comparar las poblaciones de incidentes y de prevalentes, y tampoco entre hombres y mujeres. Se realizó estudio genético en 87 pacientes (2,5% de los pacientes): 60 varones con disminución de la actividad enzimática y 27 mujeres con una disminución de la actividad enzimática, aumento de los niveles de Lyso-Gl3 o ambos. Las variantes genéticas identificadas fueron: p.Asp313Tyr (4 pacientes), p.Arg220Gln (3 pacientes) y M290I (un paciente). Ninguna de las variantes identificadas fue patógena. Conclusiones: El 76% de los centros de HD de la Comunidad de Madrid participaron en el estudio. Este es el primer estudio epidemiológico prospectivo de EF en la población de HD de una región de España. También es la primera vez que se describen niveles de alfa-galactosidasa A y Lyso-Gl3 en HD, sin embargo, en este estudio no se han identificado pacientes con EF. (AU)

Epidemiology of Fabry disease in patients in hemodialysis in the Madrid community.

This study screened for Fabry disease (FD) in patients in hemodialysis (HD) in the region of Madrid (CAM) with a cross-sectional design to evaluate HD-prevalent patients, followed by a three-year period prospective design to analyze HD-incident patients. INCLUSION CRITERIA: patients older than 18 years on HD in the CAM, excluding patients diagnosed with any other hereditary disease with renal involvement different from FD, that sign the Informed Consent (IC). EXCLUSION CRITERIA: underaged patients or not agreeing or not being capable of signing the IC. RESULTS: 3470 patients were included, 63% males and with an average age of 67.9±9.7 years. 2357 were HD-prevalent patients and 1113 HD-incident patients. For HD-prevalent patients, average time in HD was 45.2 months (SD 51.3), in HD-incident patients proteinuria was present in 28.4%. There were no statistical differences in plasmatic alpha-galactosidase A (α-GAL-A) activity or Lyso-GL-3 values when comparing HD-prevalent and HD-incident populations and neither between males and females. A genetic study was performed in 87 patients (2.5% of patients): 60 male patients with decreased enzymatic activity and 27 female patients either with a decreased GLA activity, increased Lyso-Gl3 levels or both. The genetic variants identified were: p.Asp313Tyr (4 patients), p.Arg220Gln (3 patients) and M290I (1 patient). None of the identified variants is pathogenic. CONCLUSIONS: 76% of HD Centers of the CAM participated in the study. This is the first publication to describe the prevalence of FD in the HD-population of a region of Spain as well as its average α-GAL-A-activity and plasmatic Lyso-Gl3 levels. It is also the first study that combines a cross-sectional design with a prospective follow-up design. This study has not identified any FD patient.

More difficult still: Treating severe rapidly progressive glomerulonephritis in the context of COVID-19 pneumonia.

We present the case of a male patient with severe SARS-CoV-2 pneumonia, with simultaneous onset of p-ANCA positive rapidly progressive glomerulonephritis. We discuss the different therapeutic possibilities, emphasising the appropriateness of their administration according to the time in the course of the infection.

More difficult still: Treating severe rapidly progressive glomerulonephritis in the context of COVID-19 pneumonia. / Más difícil todavía: tratar una glomerulonefritis rápidamente progresiva grave en el seno de una neumonía por COVID-19.

We present the case of a male patient with severe SARS-CoV-2 pneumonia, with simultaneous onset of p-ANCA positive rapidly progressive glomerulonephritis. We discuss the different therapeutic possibilities, emphasising the appropriateness of their administration according to the time in the course of the infection.

Glomerulonefritis necrosante en un paciente con VIH, VHC y leishmaniasis visceral / Necrotizing glomerulonephritis in patients with HIV, HCV and visceral leishmaniasis

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Inmunosupresión como desencadenante de un síndrome de hiperinfestación por Strongyloides stercolaris en la nefropatía membranosa / Immunosuppression as a trigger for hyperinflammatory syndrome due to Strongyloides stercolaris in membranous nephropathy

La relación entre parásitos y glomerulonefritis (GN) está bien documentada en determinadas parasitosis, no así en casos de Strongyloides stercolaris (S. stercolaris), donde hay pocos casos descritos, siendo la mayoría GN de cambios mínimos. Reportamos un caso de hiperinfestación por S. stercolaris en un paciente afectado de una GN membranosa tratado con corticoides por vía oral con resultado fatal para el paciente. Este caso nos aporta una doble enseñanza: en primer lugar, acerca de una asociación rara de estrongiloidiasis y GN membranosa, y en segundo lugar, sobre la importancia de establecer un diagnóstico de sospecha y tratamiento adecuados ante determinadas infecciones o enfermedades con poca expresividad clínica antes de iniciar cualquier tratamiento inmunosupresor

The relationship between parasites and glomerulonephritis (GN) is well documented in certain parasitoses, but not in cases of Strongyloides stercolaris (S. stercolaris) where there are few cases described being the majority GN of minimal changes. We report a case of hyperinfestation by S. stercolaris in a patient affected by a membranous GN treated with oral corticosteroids with fatal outcome for the patient. This case provides a double teaching: first about a rare association of strongyloid and membranous GN and second about the importance of establishing a diagnosis of suspected and appropriate treatment for certain infections or diseases with little clinical expression before starting any immunosuppressive treatment

Immunosuppression as a trigger for hyperinflammatory syndrome due to Strongyloides stercolaris in membranous nephropathy. / Inmunosupresión como desencadenante de un síndrome de hiperinfestación por Strongyloides stercolaris en la nefropatía membranosa.

The relationship between parasites and glomerulonephritis (GN) is well documented in certain parasitoses, but not in cases of Strongyloides stercolaris (S. stercolaris) where there are few cases described being the majority GN of minimal changes. We report a case of hyperinfestation by S. stercolaris in a patient affected by a membranous GN treated with oral corticosteroids with fatal outcome for the patient. This case provides a double teaching: first about a rare association of strongyloid and membranous GN and second about the importance of establishing a diagnosis of suspected and appropriate treatment for certain infections or diseases with little clinical expression before starting any immunosuppressive treatment.

¿Cuál es el flujo de baño óptimo en la hemodiafiltración on-lineposdilucional? / What is the optimum dialysate flow in post-dilution online haemodiafiltration?

Introducción: En la hemodiafiltración en línea posdilucional (HDFOL) la única recomendación acerca del líquido de diálisis (LD) hace referencia a su pureza. No se ha definido si usar flujos de baño (Qd) elevados tiene alguna utilidad para aumentar el Kt o el volumen de ultrafiltración-infusión (VI). Objetivo: Estudiar cómo influye el Qd en el Kt y en el VI en la HDFOL. Material y métodos: Estudio cruzado prospectivo. Se incluyó a 37 pacientes a los que se les realizaron 6 sesiones de HDFOL con cada Qd: 500, 600 y 700ml/min. Veintiún pacientes se dializaron en monitor 5008® y 17 con AK-200®. Los dializadores utilizados fueron: 20 con FX800® y 17 con Polyflux-210®. El resto de los parámetros se mantuvieron constantes. Se recogieron del monitor: flujo efectivo de sangre, tiempo efectivo de diálisis, Kt final y VI. Resultados: Encontramos que usando un Qd=600 o 700ml/min, el Kt aumentó un 1,7% respecto al uso de Qd=500ml/min. Las diferencias de VI no fueron significativas. Aumentar el Qd de 500ml/min a 600 y 700ml/min aumenta el consumo de LD un 20 y un 40%, respectivamente. Conclusiones: En la HDFOL con los monitores y dializadores utilizados no son útiles los Qd superiores a 500ml/min para aumentar la eficacia del Kt ni el VI, por lo que su utilización implica un despilfarro de un recurso como el agua, tan importante tanto desde el punto de vista ecológico como económico (AU)

Introduction: In post-dilution online hemodiafiltration (OL-HDF), the only recommendation concerning the dialysate, or dialysis fluid, refers to its purity. No study has yet determined whether using a high dialysate flow (Qd) is useful for increasing Kt or ultrafiltration-infusion volume. Objective: Study the influence of Qd on Kt and on infusion volume in OL-HDF. Material and methods: This was a prospective crossover study. There were 37 patients to whom 6 sessions of OL-HDF were administered at 3 different Qds: 500, 600 and 700ml/min. A 5008® monitor was used for the dialysis in 21 patients, while an AK-200® was used in 17. The dialysers used were: 20 with FX 800® and 17 with Polyflux-210®. The rest of the parameters were kept constant. Monitor data collected were effective blood flow, effective dialysis time, final Kt and infused volume. Results: We found that using a Qd of 600 or 700ml/min increased Kt by 1.7% compared to using a Qd of 500ml/min. Differences in infusion volume were not significant. Increasing Qd from 500ml/min to 600 and 700ml/min increased dialysate consumption by 20% and 40%, respectively. Conclusions: With the monitors and dialysers currently used in OL-HDF, a Qd higher than 500ml/min is unhelpful for increasing the efficacy of Kt or infusion volume. Consequently, using a high Qd wastes water, a truly important resource both from the ecological and economic points of view (AU)

What is the optimum dialysate flow in post-dilution online haemodiafiltration?

INTRODUCTION: In post-dilution online hemodiafiltration (OL-HDF), the only recommendation concerning the dialysate, or dialysis fluid, refers to its purity. No study has yet determined whether using a high dialysate flow (Qd) is useful for increasing Kt or ultrafiltration-infusion volume. OBJECTIVE: Study the influence of Qd on Kt and on infusion volume in OL-HDF. MATERIAL AND METHODS: This was a prospective crossover study. There were 37 patients to whom 6 sessions of OL-HDF were administered at 3 different Qds: 500, 600 and 700ml/min. A 5008(®) monitor was used for the dialysis in 21 patients, while an AK-200(®) was used in 17. The dialysers used were: 20 with FX 800(®) and 17 with Polyflux-210(®). The rest of the parameters were kept constant. Monitor data collected were effective blood flow, effective dialysis time, final Kt and infused volume. RESULTS: We found that using a Qd of 600 or 700ml/min increased Kt by 1.7% compared to using a Qd of 500ml/min. Differences in infusion volume were not significant. Increasing Qd from 500ml/min to 600 and 700ml/min increased dialysate consumption by 20% and 40%, respectively. CONCLUSIONS: With the monitors and dialysers currently used in OL-HDF, a Qd higher than 500ml/min is unhelpful for increasing the efficacy of Kt or infusion volume. Consequently, using a high Qd wastes water, a truly important resource both from the ecological and economic points of view.

Efecto agudo del baño con citrato sobre la alcalemia postdiálisis / Acute effect of citrate baths on post-dialysis alkalemia

INTRODUCCIÓN: La corrección de la acidosis metabólica provocada por la insuficiencia renal se consigue aportando bicarbonato durante la diálisis. Para evitar la precipitación de carbonato cálcico y magnésico que se produce en el líquido de diálisis (LD) al añadir bicarbonato, es necesario añadir un ácido, habitualmente acetato, que no está exento de efectos secundarios. Así, el citrato se presenta como una alternativa ventajosa al acetato, aunque sus efectos agudos no se conocen con precisión. OBJETIVO: Evaluar el efecto agudo sobre los parámetros del equilibrio ácido base y del metabolismo calcio-fósforo con la utilización de un líquido de diálisis con citrato en lugar de acetato. MATERIAL Y MÉTODOS: Estudio prospectivo y cruzado realizado en veinticuatro pacientes (15 hombres y 9 mujeres). Todos los pacientes se dializaron con monitor AK- 200-Ultra-S con líquido de diálisis SoftPac®, elaborado con 3 mmol/l de acetato y con SelectBag Citrate®, con 1 mmol/l de citrato, libre de acetato. Se extrajeron pre y post-diálisis: gasometría venosa, calcio (Ca), calcio iónico (Cai), fósforo (P) y hormona paratiroidea (PTH). RESULTADOS: Encontramos diferencias (p < 0,05) cuando utilizamos el baño con citrato (C) frente a acetato (A) en los valores postdiálisis de: pH (C: 7,43 (0,04) vs. A: 7,47 (0,05)), bicarbonato (C: 24,7 (2,7) vs. A: 27,3 (2,1) mmol/L), exceso de base (BEecf) (C: 0,4 (3,1) vs A: 3,7 (2,4) mmol/L), calcio corregido (Cac) (C: 9,8 (0,8) vs A: 10,1 (0,7) mg/dl) y Cai (C: 1,16 (0,05) vs A: 1,27 (0,06) mmol/L). No encontramos diferencias en ninguno de los parámetros medidos prediálisis. CONCLUSIÓN: La diálisis con citrato consigue un mejor control de equilibrio ácido base postdiálisis disminuyendo/evitando la alcalemia postdiálisis y un menor aumento de calcio corregido (Cac) y Cai. Este hallazgo es de especial interés en pacientes con factores predisponentes a arritmias, pacientes con insuficiencia respiratoria, retención de carbónico, calcificaciones y hepatopatía avanzada

Introduction: Correcting metabolic acidosis provoked by renal failure is achieved by supplying bicarbonate during dialysis. To prevent the precipitation of calcium and magnesium carbonate produced in the dialysis fluid (DF) when bicarbonate is added, it is necessary to add an acid(normally acetate), which involves secondary effects. Consequently, citrate is presented as an advantageous alternative to acetate, although its acute effects are not known with precision. Objective: Our objective was to assess the acute effect of using a DF with citrate instead of acetate on the parameters of acid-base balance and of phosphorus-calcium metabolism. Material and methods: We carried out a prospective, cross-over study on 24 patients (15 males and 9 females). All the patients were dialysed using an AK 200 ULTRA-S monitor with SoftPacRDF, prepared with 3 mmol/l of acetate, and with SelectBag CitrateR, with 1 mmol/l of acetate freecitrate. Before and after dialysis we extracted: venous blood gases, calcium (Ca), ionized calcium (Cai), phosphorus (P) and parathyroid hormone (PTH).Results: We found differences (P<.05) when we used a dialysate with citrate (C) compared with using acetate (A) in the post-dialysis values of pH (C: 7.43 [0.04] vs A: 7.47 [0.05]), bicarbonate(C: 24.7 [2.7] vs A: 27.3 [2.1] mmol/L), base excess of extracellular fluid (BEecf) (C: 0.4 [3.1] vs A: 3.7[2.4] mmol/L), corrected calcium (cCa) (C: 9.8 [0.8] vs A: 10.1 [0.7] mg/dl) and Cai (C: 1.16 [0.05] vsA: 1.27 [0.06] mmol/L). We found no differences in any of the parameters measured before dialysis. Conclusion: Dialysis with citrate achieves better post-dialysis acid-base balance, lowering/avoiding post-dialysis alkalemia and producing a lower increase in corrected calcium (Cac) and Cai. This finding is of special interest for patients with predisposing factors to arrhythmia and patients with respiratory failure, carbon dioxide retention, calcifications or advanced hepatopathy (AU)

Long-term remission with rituximab in a patient with severe hepatitis C virus-induced mixed cryoglobulinemia.

Mixed cryoglobulinemia (MC) is a small-vessel systemic vasculitis characterized by the presence of cryoglobulins, immunoglobulin complexes that precipitate at low temperatures ( < 37 ºC) inducing the inflammatory process. The most frequent etiology is hepatitis C infection (HCV) (1). Rituximab (RTX), an anti-CD20 monoclonal antibody, has recently emerged as the treatment of choice for severe MC (2). We present a case of severe hepatitis C virus-induced MC that was controlled and maintained in remission with RTX for 26 months, a remarkable prolonged period of time.

Sodium set-point in haemodialysis: is it what we see clinically?

BACKGROUND: Natraemia in haemodialysis (HD) patients is considered constant contrary to daily clinical observations. Its relationship with clinical parameters, dialysis parameters and body water (BW) distribution is not clear. OBJECTIVES: The aims of this study were to know 1) the intraindividual variability of natraemia, 2) the relationship between natraemia and clinical and dialysis parameters and 3) the relationship between natraemia and BW distribution by bioimpedance. MATERIAL AND METHOD: Observational retrospective study on 98 chronic HD patients. Clinical, HD and natraemia, glucose and bioimpedance data were collected. RESULTS: We included 63 males and 35 females of 69.6 (21-91) years of age, with a follow-up of 23.2 (10) months. Variability: 1802 sodium measurements: mean natraemia 138 (3.2) mEq/l and corrected for glucose: 139.1 (3.6) mEq/l, p<.0001. Intraindividual coefficient of variation (CV) was 2% (0.8) (range 1-5.6%) and it correlated negatively with natraemia (r=-0.63, p<.0001). Clinical parameters: corrected natraemia was lower in diabetics than in non-diabetics 138 (2.4) compared with 139 (2) mEq/l, p<.003, CV 2.3 (0.9) compared with 1.9 (0.7)% (p<.01) and SD 3.2 (1.2) compared with 2.5 (0.9) mEq/l (p<.04). No differences according to gender, age, HD time, cardiac or liver disease, medication use, residual renal function or mortality were found. HD parameters: a positive relationship was found between natraemia and total dialysate conductivity and it was negative with interdialysis weight gain (IDG). - Bioimpedance: no relationship was found between natraemia and BW distribution. CONCLUSIONS: Natraemia varies in each patient and is related positively with conductivity and negatively with IDG. In diabetics natraemia is lower and CV is higher. There is no relationship between natraemia and BW distribution.

Remisión a largo plazo con rituximab en paciente con crioglobulinemia grave asociada al virus de la hepatitis C / Long-term remission with rituximab in a patient with severe hepatitis C virus-induced mixed cryoglubulinemia

La crioglobulinemia (CG) es una vasculitis sistémica de pequeño vaso caracterizada por la presencia de crioglobulinas, las cuales son inmunocomplejos circulantes que, a bajas temperaturas (< 37 °C), precipitan desencadenando el proceso inflamatorio. La etiología más frecuente es la infección por el virus de la hepatitis C (VHC) (1). En los últimos años el anticuerpo monoclonal anti-CD20 rituximab (RTX) se ha ido posicionando como el tratamiento de primera línea en las CG de presentación agresiva (2). Presentamos el caso de una paciente con brote grave de una CG asociada al VHC que respondió al tratamiento con RTX, manteniéndose posteriormente en remisión de manera inusualmente prolongada durante 26 meses (AU)

Mixed cryoglobulinemia (MC) is a small-vessel systemic vasculitis characterized by the presence of cryoglobulins, immunoglobulin complexes that precipitate at low temperatures (< 37 °C) inducing the inflammatory process. The most frequent etiology is hepatitis C infection (HCV) (1). Rituximab (RTX), an anti-CD20 monoclonal antibody, has recently emerged as the treatment of choice for severe MC (2). We present a case of severe hepatitis C virus-induced MC that was controlled and maintained in remission with RTX for 26 months, a remarkable prolonged period of time (AU)

Embarazo en mujeres en diálisis crónica: revisión / Pregnancy in women on chronic dialysis: a review

La frecuencia de embarazos en mujeres en diálisis es extremadamente baja, aunque el porcentaje de gestaciones con éxito ha aumentado a lo largo de los años, siendo, según distintas series, superior al 70%. Estos embarazos no están exentos de complicaciones tanto para la madre como para el feto, el manejo de las cuales requiere el trabajo conjunto del nefrólogo, el ginecólogo, el enfermero y el nutricionista. A día de hoy no es posible encontrar un tratamiento sistemático nefrológico y ginecológico en este tipo de pacientes. Las principales medidas que se deberían adoptar incluirían: aumento del tiempo de diálisis, mantener bajos niveles de urea prediálisis, evitar hipotensiones e hipertensión materna, así como infecciones urinarias y fluctuaciones electrolíticas. Se requiere, además, una adecuada monitorización fetal (AU)

The frequency of pregnancy in women on dialysis is extremely low, but the percentage of successful pregnancies in this context has increased over the years, with some studies placing the survival rate above 70%. These pregnancies are not exempt from both maternal and foetal complications, and so their management requires the joint efforts of nephrologists, gynaecologists, nurses, and nutritionists. Currently, we have been unable to establish consistent systematic treatment from both nephrological and gynaecological specialists in these patients. The main changes that need to be made are: increased time on dialysis, maintaining low levels of pre-dialysis urea, avoiding: maternal hypertension and hypotension, anaemia, urinary tract infections, and fluctuations in electrolytes. Adequate foetal monitoring is also necessary (AU)

Pregnancy in women on chronic dialysis: a review.

The frequency of pregnancy in women on dialysis is extremely low, but the percentage of successful pregnancies in this context has increased over the years, with some studies placing the survival rate above 70%. These pregnancies are not exempt from both maternal and foetal complications, and so their management requires the joint efforts of nephrologists, gynaecologists, nurses, and nutritionists. Currently, we have been unable to establish consistent systematic treatment from both nephrological and gynaecological specialists in these patients. The main changes that need to be made are: increased time on dialysis, maintaining low levels of pre-dialysis urea, avoiding: maternal hypertension and hypotension, anaemia, urinary tract infections, and fluctuations in electrolytes. Adequate foetal monitoring is also necessary.