Long-Term Dose-Dependent Agalsidase Effects on Kidney Histology in Fabry Disease

Skrunes, Rannveig; Tøndel, Camilla; Leh, Sabine; Larsen, Kristin Kampevold; Houge, Gunnar; Davidsen, Einar Skulstad; Hollak, Carla E. M.; Kuilenburg, André B. P.; Vaz, Frédéric M.; Svarstad, Einar

doi:10.2215/cjn.01820217

Cited by 50 publications

(39 citation statements)

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“…This association is confirmed by the results of comparative assessments and studies in which agalsidase alfa was switched to agalsidase beta or vice versa. [49][50][51][52] The most common adverse effects associated with ERT were postinfusion reactions (more frequent with agalsidase beta). Most of them were mild to moderate, were not a reason for discontinuation of therapy, and subsided with subsequent administrations.…”

Section: Article Informationmentioning

confidence: 99%

Enzyme replacement therapy in Fabry disease in Poland – position statement

Nowicki

Bazan-Socha

Błażejewska-Hyżorek

et al. 2019

Polish Archives of Internal Medicine

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associated with thin nerve fiber involvement occur, such as impaired perspiration (hypohidrosis, anhidrosis), abdominal pain, and diarrhea. Characteristic symptoms of the classic form also include angiokeratoma-type cutaneous lesions and corneal opacities (cornea verticillata). 1 Even in childhood, clinically silent proteinuric chronic kidney disease (CKD) may occur with microalbuminuria or glomerulosclerosis. Multiorgan symptoms of the classic form of FD usually appear in young adults and may include CKD, left ventricular hypertrophy, myocardial fibrosis, arrhythmias and conduction abnormalities, transient ischemic attack, and stroke. People with late-onset FD typically experience cardiac symptoms, stroke, or CKD in the fourth or fifth decade of life. 1 The classic form is an early-onset multisystem disease that usually presents with cornea verticillata and angiokeratomas. In contrast, the nonclassic form has a later onset and usually affects a single organ, most often the heart; angiokeratomas or cornea verticillata is rare. The progression of cellular and organ changes is observed in the course of FD. Metabolite accumulation begins as early as in the fetal period, leading to the involvement of numerous tissues and severe organ damage (FIguRE 1). 4 The life

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Section: Article Informationmentioning

confidence: 99%

Enzyme replacement therapy in Fabry disease in Poland – position statement

Nowicki

Bazan-Socha

Błażejewska-Hyżorek

et al. 2019

Polish Archives of Internal Medicine

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“…Early ERT has been demonstrated to lead to Gb3 depletion in renal cells in children and adults in a dosage-and frequency-dependent manner. [38][39][40][41] Furthermore, ERT has been reported to stabilize renal function in terms of eGFR, whereas ERT's effect on proteinuria and albuminuria is inconsistent. 26,[29][30][31][32][33][34][35][36][37][42][43][44][45][46][47][48][49][50][51][52] If ERT is started before myocardial fibrosis has developed, a long-term improvement of myocardial morphology, function, and exercise capacity can be achieved.…”

Section: Fd-specific Treatmentmentioning

confidence: 99%

Effects of Enzyme Replacement Therapy and Antidrug Antibodies in Patients with Fabry Disease

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2018

JASN

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FOS, Fabry outcome survey; 95% CI, 95% confidence interval; LRI, low renal impairment; HRI, high renal impairment; mGFR, measured glomerular filtration rate; OR, odds ratio. 62 95% CI, 95% confidence interval; FOS, Fabry outcome survey; LRI, low renal impairment; HRI, high renal impairment; LVMI, left ventricular mass index; LVM, left ventricular mass; MWT, mean wall thickness; LVH, left ventricular hypertrophy; IVST, interventricular septum thickness; RWT, relative wall thickness; LVWT, left ventricular wall thickness.

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“…In successful ERT, GL-3 clearance is reportedly almost complete in renal tissues after treatment (4,13), suggesting that the presence of urinary Mulberry cells indicates GL-3 accumulation in renal tissues. In one study, GL-3 levels decreased in podocytes and disappeared from the intima of arterioles at significantly higher rates in the high-dose group (0.2-1.0 mg/kg) than in the low-dose group (0.2 mg/kg) among patients undergoing ERT for a mean of 9.4 years (19). This suggests that despite continuing ERT for many years, the dose for Case 1 may not have been sufficient, so the GL-3 accumulation in the kidneys could not be inhibited; this is further supported by the fact that myeloid and zebra bodies persisted in the renal tissues of Case 1.…”

Section: Discussionmentioning

confidence: 98%

Urinary Mulberry Cells as a Biomarker of the Efficacy of Enzyme Replacement Therapy for Fabry Disease

et al. 2020

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Mulberry cells are often present in the urinary sediments of patients with Fabry disease (FD). We herein report two patients with FD undergoing enzyme replacement therapy (ERT). A 41-year-old man was diagnosed based on lack of α-galactosidase A activity. ERT was subsequently administered. A 40-year-old woman was diagnosed based on urinary Mulberry cells and genetic testing, and ERT was initiated. While the renal function of the male patient deteriorated, the Mulberry cells disappeared in the female patient after ERT was administered. The detection of urinary Mulberry cells can contribute to the diagnosis as well as serve as a biomarker for the response to treatment.

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Long-Term Dose-Dependent Agalsidase Effects on Kidney Histology in Fabry Disease

Cited by 50 publications

References 43 publications

Enzyme replacement therapy in Fabry disease in Poland – position statement

Enzyme replacement therapy in Fabry disease in Poland – position statement

Effects of Enzyme Replacement Therapy and Antidrug Antibodies in Patients with Fabry Disease

Urinary Mulberry Cells as a Biomarker of the Efficacy of Enzyme Replacement Therapy for Fabry Disease

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