Deficiency in the Screening Process of Fabry Disease: Analysis of Chronic Kidney Patients Not on Dialysis

Battaglia, Yuri; Fiorini, Fulvio; Azzini, Cristiano; Esposito, Pasquale; Vito, Alessandro De; Granata, Antonio; Storari, Alda; Mignani, Renzo

doi:10.3389/fmed.2021.640876

Cited by 11 publications

(4 citation statements)

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“…FD adults represent a growing population, thanks both to progress in genetics and medicine that allowed the detection of new disease variants, and also to the screening of special risk populations (e.g., patients on dialytic treatment or renal transplanted) [ 30 , 31 , 32 ]. Moreover, drugs such as ERT or oral therapy have helped to extend life expectancy and implement the future number of FD patients [ 31 ].…”

Section: Discussionmentioning

confidence: 99%

Gastrointestinal Manifestations and Low-FODMAP Protocol in a Cohort of Fabry Disease Adult Patients

et al. 2023

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Fabry disease (FD) is an X-linked lysosomal disorder caused by α-galactosidase A enzyme deficiency. Gastrointestinal (GI) manifestations are reported in FD with a prevalence of about 50%, usually treated by Enzymatic Replacement Therapy (ERT) or oral treatment. Since FODMAPs (Fermentable Oligosaccharides, Disaccharides, Monosaccharides, and Polyols) can be involved in GI manifestations and dysbiosis in FD patients, a low-FODMAP diet could represent an alternative adjunctive treatment in FD subjects, as well as being useful for reducing symptoms in Irritable Bowel Syndrome (IBS). We retrospectively assessed data from 36 adult FD patients followed at the Inherited Metabolic Rare Diseases Adult Centre of the University Hospital of Padova (mean age 47.6 ± 16.2 years). Patients were screened for GI symptoms by IBS severity score and Gastrointestinal Symptom Rating Scale (GSRS) questionnaires. In symptomatic patients, the low-FODMAP diet was proposed in order to improve GI manifestations; it consists of a phase of elimination of fermentable saccharides, succeeded by a gradual reintegration of the same. Severe or moderate GI symptoms were found in 61.1% of patients, with no correlation to the therapy in use, and significantly more severe in the classical form of FD. The protocol was completed by seven patients affected by severe GI manifestations, significantly higher than the others. The low-FODMAP diet significantly improved indigestion, diarrhoea, and constipation. This dietetic protocol seemed to have a positive impact on intestinal symptoms, by identifying and reducing the intake of the foods most related to the onset of disorders and improving the clinical manifestations. A low-FODMAP diet may be an effective alternative approach to improve intestinal manifestations and quality of life, and nutrition can play an important role in the multidisciplinary care of patients with FD.

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Section: Discussionmentioning

confidence: 99%

Gastrointestinal Manifestations and Low-FODMAP Protocol in a Cohort of Fabry Disease Adult Patients

et al. 2023

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“…A pesar de que la población pediátrica no es el alcance de este documento, es importante mencionar que con las estrategias de tamización masiva, las cifras pueden ser diferentes, en un reporte italiano posterior a la tamización neonatal se reportó una prevalencia de 1 entre 3100 nacidos [10] y en la población de Taiwán fue 1 caso entre 1500 hombres recién nacidos [16]; sin embargo, se debe tener precaución en la interpretación de los datos, porque muchas de las mutaciones encontradas podrían no asociarse con el desarrollo de la enfermedad y ser variantes de signi cado incierto o no necesariamente patológicas [57].…”

Section: Fuerte a Favorunclassified

Consenso Colombiano De Expertos Sobre Recomendaciones Basadas en Evidencia Para El Diagnóstico, Tratamiento Y Seguimiento De La Enfermedad De Fabry Con Compromiso Renal

Camargo¹,

Jiménez²,

Portillo³

et al. 2022

Rev. Colomb. Nefrol.

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RESUMEN Introducción: La enfermedad de Fabry, se comporta como una enfermedad crónica, con compromiso multisistémico y alto costo en salud. Objetivo: Generar recomendaciones basadas en la evidencia para el diagnóstico, tratamiento y seguimiento de la enfermedad de Anderson Fabry con compromiso renal, mediante un consenso de expertos. Metodología: A partir de la búsqueda de evidencia en Pubmed, Embase y Google Scholar entre 2010 y agosto de 2020, se formulan recomendaciones sobre la definición, diagnóstico y tratamiento de la Enfermedad de Fabry en población adulta, las cuales se consultan a un panel experto a través de la metodología de consenso Delphi modificado. La calidad de los documentos se evalúo por equipo metodológico aplicando herramientas en función del tipo de documento incluido. Resultados: Se formularon 53 recomendaciones sobre la definición, diagnóstico y tratamiento. Un panel de cinco expertos clínicos nacionales e internacionales externos al grupo desarrollador participaron en la consulta pre-consenso y 50 recomendaciones fueron acordadas para su inclusión. Para 3 recomendaciones se requirió una sesión formal de consenso que se dio en 1 ronda, incorporando 3 nuevas recomendaciones. Conclusión: Las recomendaciones basadas en evidencia y experticia clínica, permitirán orientar de manera estandarizada nivel nacional y regional, el diagnóstico y tratamiento de pacientes con sospecha o enfermedad de Fabry con compromiso renal. Palabras clave (DeCS): Enfermedad de Fabry, Diagnóstico, Terapia de Reemplazo Enzimático, Glicoesfingolípidos, Conferencia de Consenso

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“…This genetic mutation leads to the accumulation of globotriaosylceramide (Gb3) in various cell types, including endothelial, cardiac, renal, and neuronal cells, resulting in progressive damage to the renal, cardiac, and nervous system [1]. Kidney biopsies typically reveal Gb3 accumulation primarily in podocytes, mesangial cells, and tubular epithelial cells, with focal and global glomerulosclerosis usually starting in the second decade of life or even earlier in some cases [2,3]. It is worth noting that Gb3 accumulation alone is not solely responsible for the disease's pathogenesis [4].…”

Section: Introductionmentioning

confidence: 99%

Dapaglifozin on Albuminuria in Chronic Kidney Disease Patients with FabrY Disease: The DEFY Study Design and Protocol

Battaglia,

Bulighin,

Zerbinati

et al. 2023

JCM

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Fabry disease (FD) is a rare genetic disorder caused by a deficiency in the α-galactosidase A enzyme, which results in the globotriaosylceramide accumulation in many organs, including the kidneys. Nephropathy is a major FD complication that can progress to end-stage renal disease if not treated early. Although enzyme replacement therapy and chaperone therapy are effective, other treatments such as ACE inhibitors and angiotensin receptor blockers can also provide nephroprotective effects when renal damage is also established. Recently, SGLT2 inhibitors have been approved as innovative drugs for treating chronic kidney disease. Thus, we plan a multicenter observational prospective cohort study to assess the effect of Dapagliflozin, a SGLT2 inhibitor, in FD patients with chronic kidney disease (CKD) stages 1–3. The objectives are to evaluate the effect of Dapagliflozin primarily on albuminuria and secondarily on kidney disease progression and clinical FD stability. Thirdly, any association between SGT2i and cardiac pathology, exercise capacity, kidney and inflammatory biomarkers, quality of life, and psychosocial factors will also be evaluated. The inclusion criteria are age ≥ 18; CKD stages 1–3; and albuminuria despite stable treatment with ERT/Migalastat and ACEi/ARB. The exclusion criteria are immunosuppressive therapy, type 1 diabetes, eGFR < 30 mL/min/1.73 m2, and recurrent UTIs. Baseline, 12-month, and 24-month visits will be scheduled to collect demographic, clinical, biochemical, and urinary data. Additionally, an exercise capacity and psychosocial assessment will be performed. The study could provide new insights into using SGLT2 inhibitors for treating kidney manifestations in Fabry disease.

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Deficiency in the Screening Process of Fabry Disease: Analysis of Chronic Kidney Patients Not on Dialysis

Cited by 11 publications

References 53 publications

Gastrointestinal Manifestations and Low-FODMAP Protocol in a Cohort of Fabry Disease Adult Patients

Gastrointestinal Manifestations and Low-FODMAP Protocol in a Cohort of Fabry Disease Adult Patients

Consenso Colombiano De Expertos Sobre Recomendaciones Basadas en Evidencia Para El Diagnóstico, Tratamiento Y Seguimiento De La Enfermedad De Fabry Con Compromiso Renal

Dapaglifozin on Albuminuria in Chronic Kidney Disease Patients with FabrY Disease: The DEFY Study Design and Protocol

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