Incidental finding of cornea verticillata or lamellar inclusions in kidney biopsy: measurement of lyso-Gb3 in plasma defines between Fabry disease and drug-induced phospholipidosis

Politei, J.; Frabasil, Joaquín; Durand, Consuelo; Pietrantonio, Silvia Di; Fernández, Antonio B.; Albertón, Valeria; Rivas, D. Velasquez; Barriales‐Villa, Roberto; Larrañaga-Moreira, J.; Schenone, Andrea

doi:10.1016/j.bbadis.2020.165985

Cited by 6 publications

(5 citation statements)

References 21 publications

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“…The latest European Society of Cardiology (ESC) guidelines [69] have recommended the use of EMB, highlighting that it could also be performed in other involved organs such as skin and renal tissue. Importantly, it should be taken into account that administering some drugs might induce drug-induced phospholipidosis with an intracellular accumulation of phospholipids in different tissues mimicking zebra bodies [77,78]. Moreover, the role of a multidisciplinary approach and the importance of expert pathologists has been pointed out [69].…”

Section: Diagnostic Workup: the Roles Of Genetic And Biochemical Test...mentioning

confidence: 99%

Anderson–Fabry Disease: Red Flags for Early Diagnosis of Cardiac Involvement

Iorio,

Lucà,

Pozzi

et al. 2024

Diagnostics

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Anderson–Fabry disease (AFD) is a lysosome storage disorder resulting from an X-linked inheritance of a mutation in the galactosidase A (GLA) gene encoding for the enzyme alpha-galactosidase A (α-GAL A). This mutation results in a deficiency or absence of α-GAL A activity, with a progressive intracellular deposition of glycosphingolipids leading to organ dysfunction and failure. Cardiac damage starts early in life, often occurring sub-clinically before overt cardiac symptoms. Left ventricular hypertrophy represents a common cardiac manifestation, albeit conduction system impairment, arrhythmias, and valvular abnormalities may also characterize AFD. Even in consideration of pleiotropic manifestation, diagnosis is often challenging. Thus, knowledge of cardiac and extracardiac diagnostic “red flags” is needed to guide a timely diagnosis. Indeed, considering its systemic involvement, a multidisciplinary approach may be helpful in discerning AFD-related cardiac disease. Beyond clinical pearls, a practical approach to assist clinicians in diagnosing AFD includes optimal management of biochemical tests, genetic tests, and cardiac biopsy. We extensively reviewed the current literature on AFD cardiomyopathy, focusing on cardiac “red flags” that may represent key diagnostic tools to establish a timely diagnosis. Furthermore, clinical findings to identify patients at higher risk of sudden death are also highlighted.

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Section: Diagnostic Workup: the Roles Of Genetic And Biochemical Test...mentioning

confidence: 99%

Anderson–Fabry Disease: Red Flags for Early Diagnosis of Cardiac Involvement

Iorio,

Lucà,

Pozzi

et al. 2024

Diagnostics

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“…However, these are absent in some cases, including ours. Current research focusses on the development of clinical biomarkers that provide a reliable distinction between congenital lysosomal storage diseases and drug-induced phospholipidosis [20,21].…”

Section: Case Reports In Nephrology and Dialysismentioning

confidence: 99%

Hydroxychloroquine-Induced Renal Phospholipidosis: Case Report and Review of Differential Diagnoses

Menke,

Heitplatz,

Van Marck

et al. 2024

Case Rep Nephrol Dial

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Introduction: Renal phospholipidosis describes the accumulation of phospholipids in the lysosomes of kidney cells, in particular podocytes. Originally, this was described primarily in the context of the lysosomal storage disorder Fabry disease. It is now known that a variety of drugs can lead to the accumulation of lysosomal phospholipids. Case Presentation: We present the case of a 69-year-old female patient suffering chronic kidney disease and systemic lupus erythematosus who underwent a kidney biopsy because of a further increase in serum creatinine levels. There was no evidence of lupus nephritis, but electron microscopy showed zebra bodies as a morphological sign of phospholipidosis. This was most likely drug-induced after 25 years of continuous medication with hydroxychloroquine. A renal biopsy 2 years and 6 months earlier, when the renal function of the patient was distinctively better, showed no signs of renal phospholipidosis. Afterward, medication with hydroxychloroquine was discontinued, and renal function parameters remained stable in the 1-year course. Conclusion: This case raises the question of how severely impaired renal function affects the risk of hydroxychloroquine-induced renal phospholipidosis and underlines that hydroxychloroquine should be administered with caution in patients with kidney insufficiency. Moreover, we provide a review of the causes of renal phospholipidosis, which have been described in the literature and give an overview of possible differential diagnoses in cases with histologically proven phospholipidosis in renal biopsies.

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“…The mechanism of action by which HCQ induces corneal deposits is not fully understood. It is believed that HCQ accumulates in the corneal epithelium and forms a complex with proteins and lipids, resulting in the formation of deposits[ 11 ]. This could also possibly be due to reduced tear turnover and accumulation of the drug in the tear film.…”

Section: To the Editormentioning

confidence: 99%

Ophthalmologic implications to consider when using hydroxychloroquine to treat COVID-19 and induced arthritis

Zeppieri

2023

World J Exp Med

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Orphan diseases are rare diseases that affect less than 200000 individuals within the United States. Most orphan diseases are of neurologic and genetic origin. With the current advances in technology, more funding has been devoted to developing therapeutic agents for patients with these conditions. In our review, we highlight emerging options for patients with neurologic orphan diseases, specifically including diseases resulting in muscular deterioration, epilepsy, seizures, neurodegenerative movement disorders, inhibited cognitive development, neuron deterioration, and tumors. After extensive literature review, gene therapy offers a promising route for the treatment of neurologic orphan diseases. The use of clustered regularly interspaced palindromic repeats/Cas9 has demonstrated positive results in experiments investigating its role in several diseases. Additionally, the use of adeno-associated viral vectors has shown improvement in survival, motor function, and developmental milestones, while also demonstrating reversal of sensory ataxia and cardiomyopathy in Friedreich ataxia patients. Antisense oligonucleotides have also been used in some neurologic orphan diseases with positive outcomes. Mammalian target of rapamycin inhibitors are currently being investigated and have reduced abnormal cell growth, proliferation, and angiogenesis. Emerging innovations and the role of genetic treatments open a new window of opportunity for the treatment of neurologic orphan diseases.

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Incidental finding of cornea verticillata or lamellar inclusions in kidney biopsy: measurement of lyso-Gb3 in plasma defines between Fabry disease and drug-induced phospholipidosis

Cited by 6 publications

References 21 publications

Anderson–Fabry Disease: Red Flags for Early Diagnosis of Cardiac Involvement

Anderson–Fabry Disease: Red Flags for Early Diagnosis of Cardiac Involvement

Hydroxychloroquine-Induced Renal Phospholipidosis: Case Report and Review of Differential Diagnoses

Ophthalmologic implications to consider when using hydroxychloroquine to treat COVID-19 and induced arthritis

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