Histopathological findings in renal biopsies in Anderson–Fabry disease. Case series

Rodríguez, A.L. Mena; Abraham, María Virgilia Soto; Vázquez, M.Y. Valdespino; Garza, B. de León

doi:10.1016/j.hgmx.2016.08.010

Cited by 5 publications

(8 citation statements)

References 16 publications

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“…In particular, FD is characterized by a slow systematic accumulation of Gb3 [9] , [77] , [78] but zebrafish does not have Gb3 synthase gene, and hence no Gb3 accumulation can be expected. However, in FD, proteinuria represents an early clinical sign of kidney damage [79] , [80] , even before Gb3 accumulation in the podocyte [79] , [81] , and low range proteinuria may start as early as at 5 to 10 years of age [82] , [83] . Therefore, it is widely recognized that apart from Gb3, in humans, multiple and not fully elucidated signal mechanisms do work in concert with histopathologic mechanisms [84] .…”

Section: Discussionmentioning

confidence: 99%

Reduced α-galactosidase A activity in zebrafish (Danio rerio) mirrors distinct features of Fabry nephropathy phenotype

Elsaid

Furriol

Blomqvist

et al. 2022

Molecular Genetics and Metabolism Reports

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Section: Discussionmentioning

confidence: 99%

Reduced α-galactosidase A activity in zebrafish (Danio rerio) mirrors distinct features of Fabry nephropathy phenotype

Elsaid

Furriol

Blomqvist

et al. 2022

Molecular Genetics and Metabolism Reports

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“… Importantly, when electron microscopy is not available, preparation of semi-thin (1 micron) sections with osmium tetroxide and glutaraldehyde fixation and toluidine blue or Masson’s trichrome staining is considered to allow diagnosis with detection of zebra bodies when viewed under polarized light without using electron microscopy [ 1 ]. Given that potentially irreversible changes to glomeruli, interstitial tubules and vascular structures can be observed in renal biopsy specimens even before the first appearance of microalbuminuria in a child, the histological changes are considered to be an early indicator of renal damage and diagnostic as well as prognostic indicators in FD [ 63 ]. Histological studies should not routinely be performed for the diagnosis of FD, while a biopsy of the affected organ for a histological study with electron microscopy is necessary in cases of suspected FD having indefinite enzyme and/or genetic test (especially VUS) results [ 6 ].…”

Section: Clinical Manifestations Specific To Organ Involvementmentioning

confidence: 99%

“…Given that potentially irreversible changes to glomeruli, interstitial tubules and vascular structures can be observed in renal biopsy specimens even before the first appearance of microalbuminuria in a child, the histological changes are considered to be an early indicator of renal damage and diagnostic as well as prognostic indicators in FD [ 63 ].…”

Section: Clinical Manifestations Specific To Organ Involvementmentioning

confidence: 99%

“… Fabry cataract is usually regarded to be pathognomonic, whereas mannosidosis might cause the similar lens opacity and increased ocular vessel tortuosity has also been reported in healthy individuals as well as in fucosidosis [ 114 , 115 , 122 – 124 ]. In addition, light microscopy in biopsy specimens from conjunctiva shows the accumulation of sphingolipids as PAS-positive Sudan-positive intra-lysosomal inclusions that are birefringent when viewed under polarized light [ 63 ]. Hence, ophthalmologists often have the opportunity to identify patients early, before the disease is well advanced, emphasizing the likelihood of a heightened awareness of FD among ophthalmologists and optometrists to greatly reduce diagnostic delays and thus reduce the morbidity and mortality of this life-threatening disease [ 114 , 115 ].…”

Section: Clinical Manifestations Specific To Organ Involvementmentioning

confidence: 99%

“…In addition, light microscopy in biopsy specimens from conjunctiva shows the accumulation of sphingolipids as PAS-positive Sudan-positive intra-lysosomal inclusions that are birefringent when viewed under polarized light [ 63 ].…”

Section: Clinical Manifestations Specific To Organ Involvementmentioning

confidence: 99%

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Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective

Ezgu

Alpsoy

Bahçebaşı

et al. 2022

Orphanet J Rare Dis

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This consensus statement by a panel of Fabry experts aimed to identify areas of consensus on conceptual, clinical and therapeutic aspects of Fabry disease (FD) and to provide guidance to healthcare providers on best practice in the management of pediatric and adult patients with FD. This consensus statement indicated the clinical heterogeneity of FD as well as a large number of pathogenic variants in the GLA gene, emphasizing a need for an individualized approach to patient care. The experts reached consensus on the critical role of a high index of suspicion in symptomatic patients and screening of certain at-risk groups to reveal timely and accurate diagnosis of FD along with an increased awareness of the treating physician about the different kinds of pathogenic variants and their clinical implications. The experts emphasized the crucial role of timely recognition of FD with minimal delay from symptom onset to definite diagnosis in better management of FD patients, given the likelihood of changing the disease’s natural history, improving the patients’ quality of life and the prognosis after enzyme replacement therapy (ERT) administered through a coordinated, multidisciplinary care approach. In this regard, this consensus document is expected to increase awareness among physicians about unique characteristics of FD to assist clinicians in recognizing FD with a well-established clinical suspicion consistent with pathogenic variants and gender-based heterogeneous clinical manifestations of FD and in translating this information into their clinical practice for best practice in the management of patients with FD.

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Fabry Disease: Screening and Analysis of the Associated Clinical Manifestations in Patients Attending Dialysis and Nephrology Clinics in Durban, South Africa

Singh

Benjamin

Assounga

2022

Preprint

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Background Fabry disease is inherited in an X-linked manner in which the mutated gene inhibits the functioning of the alpha-Galactosidase-A enzyme causing a deficiency or absence of the enzyme, characterising it as a progressive, lysosomal storage disorder. Subsequently, the accumulation of globotriaosylceramide (Gb3) in the lysosomes causes damage to tissues and major organs. Fabry nephropathy is one of the major organ complications caused by Fabry disease resulting in end-stage kidney disease. To our knowledge, no research has been conducted to determine the association between Fabry disease, its clinical manifestations, and chronic kidney disease in Durban. Methods This study was a prospective, quantitative study. A cohort of 200 male patients with chronic kidney disease (CKD stage 2-5D) was enrolled. A control group of 14 healthy males was also enrolled for this study. The ELISA technique was employed to determine the alpha Gal-A enzyme concentration levels in plasma. A questionnaire using the MSSI scoring system was presented to the participants to identify clinical manifestations. The SPSS Version 27 (IBM, New York, USA) was used to analyse the data. Results A cut-off value for the alpha Gal-A enzyme concentration levels of < 500pg/ml was calculated. A total of 17 participants from the patient group (n = 11) and the control group (n = 6) displayed alpha-Gal-A enzyme levels < 500pg/ml. The univariate regression analysis revealed, statistically significant association between alpha-Gal levels < 500pg/ml and age (p = 0.007), heat or cold intolerance (p = 0.049), hypertension (p < 0.001) and eGFR (p < 0.001). MSSI scores displayed a negative association (p = 0.001). The multivariate regression analysis showed that age and MSSI scores retained their significance when eGFR was excluded as a variable, however, with the inclusion of eGFR as a variable, none of the variables retained their significance. Conclusion Fabry disease is suspected in 17 participants with alpha-Gal levels of < 500pg/ml. The cause of CKD nephropathy raises interest as conditions such as FSGS have been associated with FD. The low levels of the alpha-Gal enzyme and the presentation of the clinical manifestations can be utilised as preliminary findings. Confirmatory tests such as DNA analysis or Gb3 and GL3 analysis should be performed to confirm the diagnosis.

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Histopathological findings in renal biopsies in Anderson–Fabry disease. Case series

Cited by 5 publications

References 16 publications

Reduced α-galactosidase A activity in zebrafish (Danio rerio) mirrors distinct features of Fabry nephropathy phenotype

Reduced α-galactosidase A activity in zebrafish (Danio rerio) mirrors distinct features of Fabry nephropathy phenotype

Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective

Fabry Disease: Screening and Analysis of the Associated Clinical Manifestations in Patients Attending Dialysis and Nephrology Clinics in Durban, South Africa

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