Chloroquine Toxicity Misdiagnosed as Fabry Disease Associated with Systemic Lupus Erythematosus and Hashimoto Thyroiditis

Navratil, Marta; Jureković, Irena Ivković

doi:10.3899/jrheum.170689

Cited by 8 publications

(10 citation statements)

References 6 publications

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“…11 Taking chloroquine, amiodarone, and diuretics may also cause similar changes, which need to be identified. 12 4) Gene detection is the gold indicator for diagnosis of Fabry disease. Several cases of Fabry disease with IgA nephropathy have been reported.…”

Section: Discussionmentioning

confidence: 99%

IgA nephropathy suspected to be combined with Fabry disease or Alport syndrome: a case report

Hao

Zhang

et al. 2019

J Int Med Res

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Immunoglobulin A (IgA) nephropathy is the most common glomerular disease, and it often manifests as persistent microscopic hematuria or gross hematuria. Fabry disease and Alport syndrome are hereditary diseases caused by mutation of genes, and these diseases are rare in China. At present, patients can be diagnosed with IgA nephropathy by clinical manifestations and laboratory examinations, but there is still controversy about the simultaneous diagnosis of Alport syndrome and Fabry disease in patients with IgA nephropathy. The present case was a 17-year-old girl with hematuria and proteinuria who underwent a renal biopsy. Light microscopy and immunofluorescence showed that IgA was deposited in the mesangium. Under electron microscopy, zebra bodies with a lamellated structure were detected. A gene test showed a COL4A3 gene mutation. The patient was administered prednisone 40 mg once a day and dispersible tablets of mycophenolate mofetil 0.75 g two times a day. The patient’s condition showed a trend of remission. The findings in our case emphasize the importance of renal biopsy and gene detection in hereditary kidney disease, especially for Fabry disease and its rare coexistence with Alport syndrome.

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Section: Discussionmentioning

confidence: 99%

IgA nephropathy suspected to be combined with Fabry disease or Alport syndrome: a case report

Hao

Zhang

et al. 2019

J Int Med Res

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“…Indeed, endomyocardial biopsies reveal an accumulation of polysaccharides in cardiomyocytes, probably due to the inhibition of the activity of alpha-galactosidase A, beta-galactosidase, and arylsulfatase, which is reversible after 4-AQ cessation [77]. The pathophysiology of ventricular thickening induced by 4-AQ therefore closely resembles that of Fabry disease, a genetic deficit in alpha-galactosidase A [78]. Ventricular hypertrophy is common to these two pathologies, and, histologically, only the presence of curvilinear bodies in electron microscopy, specific to the toxicity of 4-AQ can make the difference with fabry disease [79].…”

Section: Mechanismsmentioning

confidence: 96%

Systemic toxicity of chloroquine and hydroxychloroquine: prevalence, mechanisms, risk factors, prognostic and screening possibilities

Müller

2021

Rheumatol Int

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“…1,2 Besides cutaneous and musculoskeletal manifestations, renal and neurologic involvement could be seen in the course of both diseases. 1,[2][3][4][5][6][7][8][9][10][11][12] Deficient activity of lysosomal alpha-galactosidase enzyme that is caused by mutations in alphagalactosidase A (GLA) gene is responsible for clinical manifestations. The lack of enzyme activity results in the progressive accumulation of neutral glycosphingolipids, primarily globotriaosylceramide (Gb3), within lysosomes in a variety of cell types, including endothelial, renal, cardiac and nerve cells.…”

mentioning

confidence: 99%

“…20 The co-existence of FD and various immune disorders such as SLE, rheumatoid arthritis, juvenile idiopathic arthritis and immunoglobulin A nephropathy have already been reported. [2][3][4][5][6]21,22 Furthermore, rheumatic diseases misdiagnosed as FD were also reported. 13 Presence of SLE associated autoantibodies in FD and co-occurrence of FD and SLE have been previously reported in isolated case reports.…”

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confidence: 99%

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Screening for Fabry Disease in Patients With Juvenile Systemic Lupus Erythematosus

et al. 2020

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Objectives: This study aims to determine the prevalence of Fabry disease (FD) among patients with juvenile systemic lupus erythematosus (SLE). Patients and methods: This cross-sectional study included 76 juvenile SLE patients (12 males; 64 females; mean age 16±3.3 years; range, 8 to 23.5 years) who were diagnosed according to 1997 update of the 1982 American College of Rheumatology revised criteria for classification of SLE. Since the majority of patients were female, alpha-galactosidase A gene was investigated for mutations resulting in FD. Lysosomal accumulation of globotriaosylsphingosine (lyso-Gb3) was further evaluated in mutation positive subjects by using dried blood spot testing. Results: Alpha-galactosidase A gene screening did not yield any positive mutation in our 74 subjects. However, a heterozygous p.D313Y mutation was found in two females. These subjects were further investigated for lyso-Gb3 levels in dried blood spot samples and the levels of lyso-Gb3 being normal lead to exclusion of FD in these two patients. Conclusion: We do not suggest routine screening of FD in patients with juvenile SLE; however, prospective studies with larger sample sizes are needed for further analysis.

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Chloroquine Toxicity Misdiagnosed as Fabry Disease Associated with Systemic Lupus Erythematosus and Hashimoto Thyroiditis

Cited by 8 publications

References 6 publications

IgA nephropathy suspected to be combined with Fabry disease or Alport syndrome: a case report

IgA nephropathy suspected to be combined with Fabry disease or Alport syndrome: a case report

Systemic toxicity of chloroquine and hydroxychloroquine: prevalence, mechanisms, risk factors, prognostic and screening possibilities

Screening for Fabry Disease in Patients With Juvenile Systemic Lupus Erythematosus

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