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Genotype-Phenotype Variations of Renal Complications in Fabry Disease Q279X Mutation
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Villalobos, Jacobo

; García, Carmen C.

; Politei, Juan

; Frabasil, Joaquin

; Colina, Virginia

Journal of Inborn Errors of Metabolism and Screening

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2020, Volume 8 elocation e20200007

Resumo: En | Texto: En | PDF: En

Abstract In more than 800 GLA gene mutations causing Fabry Disease (FD), renal involvement vary according to the α-GAL A mutation. The aim is to describe the genotype/phenotype variations of renal complications in two siblings with confirmed FD with the mutation p.Q279X in exon 6. We present a retrospective study of two venezuelan male siblings, ages 34 (patient 1) and 33 (patient 2), evaluated by general lab tests, renal ultrasound, renal scintigram , and renal biopsy. Fabry disease diagnose was made by α-galactosidase A activity determined in dried blood spot. Genomic DNA was sequenced by Sanger method. Patient 1 developed CKD grade 5 and high blood pressure, treated by hemodialysis during 8 years. Patient 2 showed GFR >60 ml/min, and proteinuria less than 600 mg/24H. Renal biopsy showed segmental sclerotic lesions and hypertrophic podocytes with vacuolated cytoplasm. Both patients received ERT every two weeks since 2003. Patient 1 died because dialysis complications (hyperparathyroidism, cardiomyopathy). The genotype/phenotype variation of the c.835C>T mutation (p.Gln279Ter. Q279X) in exon 6 of the GLA gene can express an important renal variation with a wide range of clinical manifestations that cannot be predicted, therefore, an early nephrological evaluation and periodic follow-up of these patients are necessary.

https://doi.org/10.1590/2326-4594-jiems-2020-0007 508 downloads

Perthes-Like Disease Masquerading Non-Classical MPS
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Souza, Carolina F.M.

; Siqueira, Ana Cecília

; Antunes, Natália S.

; Horovitz, Dafne D.G.

; Politei, Juan

; Lourenço, Charles M.

; Doriqui, Maria Juliana Rodovalho

; Souza, Débora Lima

; Galera, Marcial Francis

; Abrahão, Leonardo Cury

; Matos, Marcos Almeida

; Mendes, Pedro Henrique Barros

; Magalhães, Tatiana S.P.C

Journal of Inborn Errors of Metabolism and Screening

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2020, Volume 8 elocation e20200003

Resumo: En | Texto: En | PDF: En

Abstract Mucopolysaccharidoses (MPS) are inborn errors of metabolism caused by deficient lysosomal enzymes, leading to organomegaly, hip osteonecrosis, coarse facial features, bone deformities, joint stiffness, cardiac and pulmonary symptoms (MPS VI) or hypermobility (MPS IVA). Some patients may present with non-classical forms of the disease in which osteoarticular abnormalities are the initial symptoms of non-classical forms. As orthopedists and surgeons are the specialists most frequently consulted before the diagnosis, it is critical that MPS may be considered as a differential diagnosis for patients with bone dysplasia. Experts in Latin America reviewed medical records focusing on disease onset, first symptoms and the follow-up clinical and surgical outcomes of non-classical MPS VI and IVA patients. All patients displayed orthopedic issues, which worsened over time, followed by cardiac and ophthalmological abnormalities. Our findings enlighten the necessity of including non-classical MPS as possible diagnosis for patients who report osteoarticular abnormalities in absence of inflammation.

https://doi.org/10.1590/2326-4594-jiems-2020-0003 945 downloads

Consenso argentino sobre enfermedad de Pompe de inicio tardío
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Dubrovsky, Alberto

; Fulgenzi, Ernesto

; De Vito, Eduardo L

; Barroso, Fabio

; Berardo, Andrés

; Bettini, Mariela

; Binaghi, Daniela

; Calabrese, Esteban

; Carlés, Daniel

; Chaves, Marcelo

; Chloca, Fernando

; Conti, Eugenia

; Corderi, Jose

; Di Gennaro, Federico

; Ferradás, Nélida

; Jáuregui, Agustín

; Lubieniecki, Fabiana

; Mazia, Claudio

; Medina, Marta

; Pirra, Laura

; Politei, Juan

; Reisin, Ricardo

; Rosa, Alberto L

; Rugiero, Marcelo

; Salutto, Valeria

; Schenone, Andrea

; Sussini, Mario

; Taratuto, Ana L

Medicina (Buenos Aires)

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Ago 2018, Volume 78 Supl. 1 Páginas 1 - 23

Resumo: En Es | Texto: En Es | PDF: En | PDF: Es

Pompe’s disease (PD) is an infrequent metabolic autosomic recessive disorder produced by the lack or deficiency of the acid alpha-glucosidase lysosomal enzyme in tissues of involved individuals. Delayed-onset PD is considered whenever symptoms onset start after one year of age. We present an update of the recommendations for the management of delayed-onset PD, taking as reference the guidelines from the Argentine Consensus for diagnosis, treatment and follow-up of PD published in 2013. The present consensus gathered several experts in PD in the areas of internal medicine, laboratory diagnosis, neuropathology, pulmonology, nutrition, neurology, metabolic and neuromuscular disorders as well as rehabilitation to perform an update of the literature of delayed-onset PD, with special attention on relevant information published within the last 4 years. The entire working group approved the final version of the consensus. Each participant provided a declaration of conflict of interest. As a result, it is an update of the previous Argentine PD Consensus with focus on the delayed-onset presentation of the disease. Being such infrequent disorder, available data were rather limited and thus, the recommendations represent expert opinions.

La enfermedad de Pompe (EP) es un desorden metabólico autosómico recesivo infrecuente, producido por la ausencia o deficiencia de la enzima lisosomal alfa-glucosidasa ácida en los tejidos de los individuos afectados. Se considera enfermedad de Pompe de inicio tardío (EPIT) en aquellos individuos de más de un año de edad al comienzo de los síntomas. El objetivo del presente consenso es el de actualizar las pautas y recomendaciones para un correcto tratamiento de los pacientes con EPIT, tomando como referencia los lineamientos del Consenso Argentino para el diagnóstico, seguimiento y tratamiento de la enfermedad de Pompe publicado en el año 2013. Se organizó un consenso que reunió profesionales con experiencia en la EP en las áreas de clínica médica, diagnóstico de laboratorio, neuropatología, neumonología, nutrición, neurología, enfermedades metabólicas, enfermedades neuromusculares y rehabilitación. Se realizó una actualización de la bibliografía sobre EPIT, con especial atención en las publicaciones relevantes de los últimos cuatro años. Los términos finales del documento fueron consensuados por todo el grupo de trabajo. Cada participante proporcionó su declaración de conflicto de intereses. El resultado es una actualización del último Consenso Argentino para la EP, con particular enfoque en su forma de comienzo tardío. Tratándose de una afección infrecuente, en la que los datos disponibles son limitados, las presentes recomendaciones deben ser consideradas como opinión de expertos.

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Recomendaciones para el inicio de la terapia de reemplazo enzimático en pacientes con Enfermedad de Fabry clásica en Latinoamérica
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Politei, Juan

; Abensur, Hugo

; Antongiovanni, Norberto

; Luis Barros, Diego Bar

Revista de nefrologia, dialisis y trasplante

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Mar 2017, Volume 37 Nº 1 Páginas 1 - 10

Resumo: Es | Texto: Es | PDF: Es

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Cardiac Manifestation of Fabry Disease: From Hypertrophic Cardiomyopathy to Early Diagnosis and Treatment in Patients Without Left Ventricular Hypertrophy
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Fernández, Adrián

; Politei, Juan

Journal of Inborn Errors of Metabolism and Screening

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2016, Volume 4 elocation e160006

Resumo: En | Texto: En | PDF: En

Abstract Although Fabry disease was identified a century ago, it is still a challenging condition to diagnose and treat. Registries data suggest that at least 10% of patients may first present with a cardiac event and that cardiac disease is 1 of the 3 major causes of morbidity and mortality in affected males and females. Cardiac involvement in Fabry disease may be expressed as left ventricular hypertrophy (LVH), coronary disease, atrioventricular conduction disturbances, arrhythmias, and valvular involvement. The exact mechanism by which hypertrophy and fibrosis in the heart occur is not fully understood. Lysosomal globotriaosylceramide accumulation in the myocardium is responsible for only 3% of the mass in the hypertrophic heart, indicating that the LVH is not a direct result of substrate infiltration. One of the most important contributions that cardiologists can make is to consider the diagnosis of Fabry disease in patients with cardiac manifestations preceding the development of LVH and conduct family screening to identify patients with early cardiac involvement which will benefit more from enzyme replacement therapy (ERT). Fabry patients without cardiac manifestations of the disease should be evaluated annually by a cardiologist specialized in Fabry disease, regardless of the indication for ERT.

https://doi.org/10.1177/2326409816661352 1922 downloads

Editorial Letter to Special Issue Fabry Disease
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Politei, Juan

Journal of Inborn Errors of Metabolism and Screening

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2016, Volume 4 elocation e160001

Resumo: En | Texto: En | PDF: En

https://doi.org/10.1177/2326409816661350 253 downloads

Small Fiber Neuropathy in Fabry Disease: a Review of Pathophysiology and Treatment
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Politei, Juan M.

; Durand, Consuelo

; Schenone, Andrea B.

Journal of Inborn Errors of Metabolism and Screening

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2016, Volume 4 elocation e160002

Resumo: En | Texto: En | PDF: En

Abstract Fabry disease is an inherited metabolic disorder characterized by progressive lysosomal accumulation of glycolipids in a variety of cell types, including neural cells. Small, unmyelinated nerve fibers are particularly affected and small fiber peripheral neuropathy often clinically manifests at a young age. Neuropathic pain and pain attacks are often the presenting symptoms of the disease and start at an average age of 9 years in male patients and 16 years in female patients, but currently a systematic literature review in early childhood showed the presence of these symptoms before the age of 5 years. Clinical studies have shown that enzyme replacement therapy may improve the overall pain scores and pain intensity in patients; improvements in pain outcomes have been sustained during the long-term follow-up, allowing many patients to reduce their use of pain medication. Some indirect evidence from dose-switching studies suggests that enzyme replacement therapy dose may be of relevance to pain outcomes. Considering that damage to small nerve fibers occurs early, prompt treatment is important in order to limit damage to the peripheral nervous system. In this article a comprehensive overview of the existing literature on small nerve fiber pathophysiology and the relationship with neuropathic pain and treatment response in children and adults with Fabry disease is presented.

https://doi.org/10.1177/2326409816661351 969 downloads

The Central Nervous System Involvement in Fabry Disease: A Review
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Burlina, Alessandro

; Politei, Juan

Journal of Inborn Errors of Metabolism and Screening

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2016, Volume 4 elocation e160039

Resumo: En | Texto: En | PDF: En

Abstract Fabry disease (FD) is an X-linked, lysosomal storage disorder caused by a mutation in the alpha galactosidase (GLA) gene leading to a deficiency in α-galactosidase A enzyme (α-Gal A) activity, which in turn results in accumulation of glycosphingolipids in different cells. The 2 major clinical phenotypes are the classic severe phenotype and the milder, later onset phenotype. In severe affected males with little or no α-Gal A activity, the onset of acroparesthesias, hypohidrosis, angiokeratomas, and corneal dystrophy is typically observed in childhood or adolescence. With advancing age, progressive multisystem microvasculopathic disease culminates in renal failure, cardiomyopathy, and/or cerebrovascular disease. Patients with later onset have residual enzyme activity and lack of vascular endothelial glycolipid accumulations; thus, they do not present with the early manifestations of the classic phenotype and typically present cardiac or renal disease in the fourth to seventh decade. Although the pathogenesis of cerebral vasculopathy in FD is poorly understood, it can be hypothesized that white matter changes may reflect the pathophysiology of the disease.

https://doi.org/10.1177/2326409816661361 1014 downloads

TERAPIA DE REEMPLAZO ENZIMÁTICO EN LA ENFERMEDAD DE FABRY: LA DOSIS ES IMPORTANTE
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Politei, Juan Manuel

; Schenone, Andrea B

; Durand, Consuelo

; Ortiz, Alberto

Revista de nefrologia, dialisis y trasplante

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Dez 2015, Volume 35 Nº 4 Páginas 220 - 228

Resumo: En Es | Texto: En Es | PDF: En | PDF: Es

Fabry disease is a rare X-linked inherited disorder due to deficient or absent lysosomal a-galactosidase A activity, resulting in an excessive glycosphingolipid deposit, mainly globotriaosylceramide (gl3) and mortality due renal, cardiac and neurological cause. Current treatment available is enzyme replacement therapy, where the deficient enzyme is substituted. In Latinamerica and Europe two different formulations of agalsidase (alfa and beta) are available. Food and Drug Administration in United States did not approve agalsidasa Alfa. The main difference among these formulations is the licensed dose: 0.2 mg/kg every other week for Alfa and 1 mg/kg every other week for Beta. Recent studies suggest a dose-dependent response, making 0.2 mg/kg every other week not sufficient in some patients. However there are no tools to predict which patients need a higher dose for preventing or decreasing the disease progression. This review, summarize the current knowledge about the impact of different dose and its efficacy in Fabry disease.

La enfermedad de Fabry es una enfermedad rara ligada al X consecuencia de la deficiencia de a-galactosidasa A lisosomal, lo que genera un depósito excesivo de glicoesfingolípidos, predominantemente globotriaosilceramida (Gl3) y mortalidad de causa renal cardíaca y neurológica. El tratamiento actual consiste en la terapia de reemplazo enzimático, lo que intenta reemplazar por vía intravenosa la enzima deficiente. Existen en el mercado europeo y latinoamericano dos formulaciones de agalsidasa: agalsidasa alfa y agalsidasa beta, lo que permite al médico elegir el tratamiento. Sin embargo, la Food and Drug Administration en Estados Unidos rechazó aprobar la agalsidasa alfa. La diferencia fundamental entre agalsidasa alfa y agalsidasa beta es la dosis autorizada: 0,2 mg/kg y 1 mg/kg cada dos semanas respectivamente. Durante años esta diferencia tan grande de dosis sorprendió a los clínicos. Sin embargo varios estudios recientes sugieren que hay un efecto dosis-respuesta y que para algunos pacientes la dosis de 0,2 mg/kg cada dos semanas puede ser insuficiente. Sin embargo, no existen herramientas que permitan predecir que pacientes van a necesitar una dosis más alta para detener o enlentecer la progresión de la enfermedad. En esta revisión resumimos el estado actual del conocimiento sobre el impacto de las diferentes dosis y su eficacia en tratamiento de la enfermedad de Fabry.

11 downloads

10.

Enfermedad de Morquio (mucopolisacaridosis IV-A): aspectos clínicos, diagnósticos y nuevo tratamiento con terapia de reemplazo enzimático
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Politei, Juan

; . Schenone, Andrea B

; Guelbert, Norberto

; Fainboim, Alejandro

; Szlago, Marina

Archivos argentinos de pediatría

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Ago 2015, Volume 113 Nº 4 Páginas 359 - 364

Resumo: En Es | Texto: En Es | PDF: En | PDF: Es

Mucopolysaccharidosis type IV-A (Morquio A disease) is an autosomal recessive lysosomal storage disease caused by mutations in the gene encoding the N-acetylgalactosamine-6-sulfate sulfatase, that results in impaired catabolism of two glycosaminoglycans, chondroitin-6-sulfate and keratan sulfate. Clinical presentations reflect a spectrum ofprogression from a severe phenotype to an attenuated expression. Accumulation of substrate manifests predominantly as short stature and skeletal dysplasia, including atlantoaxial instability and cervical cord compression. Other abnormalities in the visual, auditory, cardiovascular and respiratory systems can also affect individuals with Morquio disease. Elosulfase alfa showed in clinical trials in children and adults a significant and sustained improvement in endurance and urinary levels of keratan sulfate. Data from the ongoing observational, multinational Morquio A Registry Study will provide valuable information on the long-term efficacy and safety of elosulfase alfa in patients, as well as on the natural history of this very rare disease.

La mucopolisacaridosis tipo IV-A (enfermedad de Morquio) es una enfermedad autosómica recesiva por acúmulo lisosomal, causada por mutaciones en el gen de la N-acetylgalactosamine-6-sulfato sulfatasa, que resulta en la falta de catabolismo de dos glicosaminoglicanos, el queratán y condroitín sulfato. Las manifestaciones clínicas varían desde un fenotipo grave a una forma atenuada. El acúmulo de sustrato se expresa como displasia ósea, baja estatura, inestabilidad atlantoaxoidea y compresión cervical. El compromiso cardíaco, respiratorio, auditivo y ocular también ha sido descrito como parte de la enfermedad. La elosulfasa alfa es el único tratamiento específico para la enfermedad de Morquio. Los estudios recientemente publicados muestran que la elosulfasa alfa en niños y adultos logra mejorar la resistencia física y reducir en forma sostenida los niveles de queratán sulfato. Los datos del registro Morquio internacional mostrarán la evolución natural de los pacientes, así como también la eficacia a largo plazo de la elosulfasa alfa.

https://doi.org/10.5546/aap.2015.359 3356 downloads

11.

Mucopolysaccharidosis VI: Evaluation After 2 Years of Treatment
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Politei, Juan

; Schenone, Andrea Beatriz

; Gustavo, Cabrera

; Alejandra, Antacle

; Marina, Szlago

Journal of Inborn Errors of Metabolism and Screening

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2015, Volume 3 elocation e140013

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Abstract Introduction: Mucopolysaccharidosis VI (MPS VI) is the result of the absence of arylsulfatase B leading to the abnormal lysosomal accumulation of glycosaminoglycans. Two different phenotypes have been described to date, namely, rapidly progressive and slowly progressive. Aim: To present the evolution of a slowly progressive phenotype of MPS VI in a patient after 2 years of enzyme replacement therapy. Case report: A 26-year-old man diagnosed with MPS VI at 9 years of age started enzyme replacement therapy with galsulfase due to cardiac, pulmonary, neurologic, and joint involvement. After 10 months of treatment, improvement in quality-of-life scales and walk test was evident. Because of persistent symptomatology associated with narrow cervical spinal canal, decompressive surgery was performed. After 2 years of treatment, there was a clear improvement in the respiratory, motor, and cardiac functions as well as in the spinal symptoms. Discussion: The evolution of our patient leads to the conclusion that the combined treatment of galasulfase and decompressive surgery should be indicated at an early stage in order to achieve best outcome for the patient.

https://doi.org/10.1177/2326409814567130 247 downloads

12.

Mucopolisacaridosis VI: aspectos clínicos, diagnósticos y del tratamiento con terapia de reemplazo enzimático
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Politei, Juan

; Schenone, Andrea

; Blanco, Mariana

; Szlago, Marina

Archivos argentinos de pediatría

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Jun 2014, Volume 112 Nº 3 Páginas 258 - 262

Resumo: En Es | Texto: En Es | PDF: En | PDF: Es

Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease associated with a deficiency or absence of arylsulfatase B leading to the abnormal accumulation of dermatan sulfate. MPS VI shows a wide spectrum of symptoms from slowly to rapidly progressing forms. The characteristic spectrum includes skeletal displasia, coarse facies, cardiomyopathy, pulmonary complications and spinal compression. Diagnosis generally requires measurement ofurinary glycosaminoglycans and arylsulfatase B enzyme activity in dried blood spot, leukocytes or cultured fibroblasts. Enzyme replacement therapy (ERT) with galsulfase is now widely available providing improvement in skeletal performance and stabilization in pulmonary and cardiac functioning. Spinal involvement does not respond to ERT when is present, surgical decompression should be indicated early. Prognosis is variable depending on the age of onset and age at initiation of ERT.

La mucopolisacaridosis de tipo VI (MPS VI) es una enfermedad de almacenamiento lisosomal resultante del déficit o ausencia de la arilsulfatasa B, que conduce a una acumulación patológica de dermatán-sulfato. Presenta un amplio espectro de síntomas, que van desde formas lentas hasta rápidamente progresivas. Los síntomas característicos son el compromiso esquelético, facies tosca, cardiopatía y compresión medular cervical. El diagnóstico se realiza por la determinación de glucosaminoglucanos en la orina y de la actividad enzimática en una gota de sangre seca, leucocitos o cultivo de fibroblastos. Actualmente, la terapia de reemplazo enzimático (TRE) con galsulfasa ha mostrado mejorar el compromiso esquelético y estabilizar la función respiratoria y cardíaca. El compromiso medular no suele responder a la TRE cuando ya se encuentra presente, por lo que la descompresión quirúrgica debe indicarse en forma temprana. El pronóstico varía en función del fenotipo y de la edad de inicio del tratamiento.

https://doi.org/10.5546/aap.2014.258 2687 downloads

13.

Enfermedad de Fabry: la importancia de la terapia de reemplazo enzimático (TRE): tratar rápida y eficazmente
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Politei, Juan

; Schenone, Andrea B.

; Antongiovanni, Norberto

; Cusumano, Ana

; Cabrera, Gustavo

; Szlago, Marina

Revista de nefrologia, dialisis y trasplante

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Jun 2014, Volume 34 Nº 2 Páginas 82 - 86

Resumo: En Es | Texto: En Es | PDF: En | PDF: Es

Fabry Disease is a lysosomal disorder due to the absence or deficiency of the Alpha galactosidase A enzyme that causes a pathological ac cumulation of glycosphingolipids mainly in the REVISIÓN endothelial cells, vascular smooth muscle cells and podocytes among others. Enzyme replacement therapy is the only option for a specific treatment at present. Increasing knowledge of the physiopathological mechanisms has changed the management of the disease and above all, when treatment should begin. At present, beginning treatment at an early age seems to be a way of preventing and in some cases reverting some of the signs and symptoms of Fabry disease.

La enfermedad de Fabry en un trastorno lisosomal por ausencia o deficiencia de la enzima Alfa galactosidasa A que genera un acúmulo patológico de glicoesfingolípidos principalmente en células endoteliales, musculares lisas de vasos sanguíneos y podocitos entre otras. La terapia de reemplazo enzimático es la única chance de tratamiento específico a la fecha. El creciente conocimiento de los mecanismos fisiopatológicos ha llevado a cambiar el manejo de la enfermedad y por sobretodo el momento de inicio del tratamiento. Actualmente el inicio en edades más tempranas parece ser una forma de evitar y en algunos casos revertir algunos de los signos y síntomas de la enfermedad de Fabry.

563 downloads

14.

Vertebrobasilar Dolichoectasia in Fabry Disease: The Earliest Marker of Neurovascular Involvement?
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Politei, Juan

; Schenone, Andrea Beatriz

; Burlina, Alessandro

; Blanco, Mariana

; Lescano, Sebastian

; Szlago, Marina

; Cabrera, Gustavo

Journal of Inborn Errors of Metabolism and Screening

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2014, Volume 2 elocation e130003

Resumo: En | Texto: En | PDF: En

Abstract Introduction: Fabry disease (FD) is a lysosomal storage disorder associated with marked cerebrovascular involvement. Conventional magnetic resonance imaging (MRI) shows different abnormalities, like white matter lesions that may already be present at an early stage in the disease. Aim: To present observations from a series of brain MRIs performed among a cohort of patients with FD and the relationship of imaging abnormalities with the presence of cardiovascular risk factors (CVRFs). Methods: A total of 70 patients with FD (43 women) were enrolled. The cardiac, renal, ophthalmic, and peripheral nerve functioning was assessed. The MRI evaluation included assessment for evidence of ischemia, microbleeds, pulvinar sign, Arnold-Chiari type 1 malformation, and vertebrobasilar dolichoectasia (VBD). The presence or absence of CVRFs was examined for all patients. Results: Renal involvement was found in 60%, cardiac compromise in 30%, cornea verticillata in 91.4%, and acroparesthesias in 87.1% of patients. Brain MRI analysis found evidence of cerebral ischemic injury in 25.9% of men and 30.2% of women. Vertebrobasilar dolichoectasia was observed in imaging from 55.5% of men and 34.8% of women. The logistic regression analysis adjusted for cardiovascular risks factors, using ischemia or VBD as a dependent variable, showed no statistically significant results. Discussion: Our results have demonstrated cerebrovascular involvement before the third decade in many patients with FD. This study is further evidence confirming that women are not just carriers of FD and should be followed clinically and evaluated comprehensively to monitor for disease burden and progression. Although silent brain ischemias in MRI should be included as a key feature for the diagnoses of FD, VBD is an earlier and frequent sign.

https://doi.org/10.1177/2326409814541246 514 downloads

15.

Guía para el diagnóstico, seguimiento y tratamiento de la enfermedad de Fabry
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- SciELO Analytics

Neumann, Pablo

; Antongiovanni, Norberto

; Fainboim, Alejandro

; Kisinovsky, Isaac

; Amartino, Hernán

; Cabrera, Gustavo

; Carmona, Sergio

; Ceci, Romina

; Cicerán, Alberto

; Choua, Martín

; Doxastakis, Griselda

; De Maio, Sonia

; Ebner, Roberto

; Escobar, Ana María

; Ferrari, Gustavo

; Forrester, Mariano

; Guelbert, Norberto

; Luna, Paula

; Marchesoni, Cinthia

; Masllorens, Francisca

; Politei, Juan

; Reisin, Ricardo

; Ripeau, Diego

; Rozenfeld, Paula

; Serebrinsky, Graciela

; Tarabuso, Ana Lía

; Trípoli, Juan

Medicina (Buenos Aires)

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Out 2013, Volume 73 Nº 5 Páginas 482 - 494

Resumo: En Es | Texto: En Es | PDF: En | PDF: Es

Fabry disease is an X-linked hereditary lysosomal storage disorder caused by deficiency of the enzyme alpha-galactosidase A. Knowledge about this disease, and its medical management, has made remarkable progress in the last decade, including the development of its specific treatment. This guide was developed by medical professionals from various specialties involved in the care of patients with Fabry disease. The discussion and analysis of the available scientific evidence, coupled with the experience of each of the participants, has allowed us to develop the concepts included in this guide in order to provide a useful tool for all professionals who care for patients with Fabry disease.

La enfermedad de Fabry es un trastorno de almacenamiento lisosomal hereditario ligado al cromosoma X, ocasionado por el déficit de la enzima alfa galactosidasa A. El conocimiento sobre esta patología, y en particular su manejo médico, ha progresado notablemente en la última década, incluyendo el desarrollo de su tratamiento específico. La presente guía fue desarrollada por profesionales médicos de diversas especialidades involucrados en la atención de pacientes con enfermedad de Fabry. La discusión y análisis de las evidencias científicas disponibles, sumado a la experiencia de cada uno de los participantes, ha permitido desarrollar los conceptos vertidos en esta guía con el objetivo de brindar una herramienta útil para todos los profesionales que asisten a pacientes con enfermedad de Fabry.

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