Renal Amyloidosis: Presentation, Diagnosis, and Management

Gurung, Reena

doi:10.1016/j.amjmed.2022.01.003

Cited by 23 publications

(22 citation statements)

References 32 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…6 It is difficult to measure the real burden of renal amyloidosis since it is frequently underdiagnosed. 1,3,7 An upsurge in renal amyloidosis' prevalence is anticipated due to aging of the general population globally. 7 Furthermore, the number of new cases is expected to rise in the coming years due to growing awareness plus improvement of diagnostic modalities.…”

Section: Introductionmentioning

confidence: 99%

“…This could potentially limit renal damage and dysfunction, the onset of end-stage renal disease, and complications of dialysis or transplant in the affected population. 6,8 Since delays in diagnosis portends poor prognosis for patients, 7,8 it is crucial to evaluate the performance of popular diagnostic modalities available for the histologic assessment of renal amyloidosis such as fluorescence microscopy (FM) in Congo red-stained renal core biopsies.…”

Section: Introductionmentioning

confidence: 99%

“…The renal amyloidosis trend of incidence has been showing a steady increase, 3 and although current statistics may be overshadowed by the reported incidence of more commonly encountered renal diseases, renal amyloidosis portends high morbidity and mortality, not only in the elderly but to young individuals as well 6 . It is difficult to measure the real burden of renal amyloidosis since it is frequently underdiagnosed 1,3,7 . An upsurge in renal amyloidosis' prevalence is anticipated due to aging of the general population globally 7 .…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Diagnostic performance of fluorescence microscopy with a tetramethylrhodamine isothiocyanate filter in identifying renal amyloidosis

Pinedo Pichilingue,

Thayyil,

Dai

et al. 2023

Histopathology

View full text Add to dashboard Cite

BackgroundRenal amyloidosis (RA) has a worldwide incidence of 5–13 cases per million person‐years and is expected to rise in upcoming years due to growing awareness, plus improvement of diagnostic modalities. Diagnosing RA remains challenging, especially when encountering very small, focal, or early amyloid deposits. Since delays in diagnosis portends poor prognosis, high morbidity, and mortality, it is crucial to evaluate the performance of commonly used diagnostic modalities. This is the first study that presents a full picture of the diagnostic performance of fluorescence microscopy (FM) with a tetramethylrhodamine isothiocyanate (TRITC) filter to diagnose RA in general and stratified by compartments.Materials and methodsA retrospective double‐blind diagnostic accuracy study of FM‐TRITC filter was performed. The presence or absence of amyloid in the vascular, interstitial, and glomerular compartments was established in 316 representative Congo red‐stained core biopsies with an FM‐TRITC filter. This was contrasted with polarized microscopy (PM) showing apple‐green birefringence as the gold standard. Sensitivity, specificity, positive and negative predictive values, likelihood ratios, and the receiver operating characteristic (ROC) curve were obtained using STATA13.ResultsThe prevalence of RA was 6.01%, comparable with that reported in the literature. Reciprocity with regard to the location and pattern of fluorescence and birefringence between the two diagnostic modalities was seen. The FM‐TRITC filter has a sensitivity of 100%, specificity of 97.64%, and a positive and negative predictive value of 73.08% and 100%, respectively. The positive likelihood ratio was 42.37, and the negative was 0.00. Overall accuracy was 97.78%. The area under the ROC curve was 0.98. The Diagnostic performance of the FM‐TRITC filter stratified by compartments is shown in Table 1. The area under the ROC curve was 0.99, 0.98, and 0.99 for the vascular, interstitial, and glomerular compartment, respectively. All patients with RA (n = 19) were correctly identified; this included one new case, one case with small and focal amyloid, and two early cases with less dense amyloid where birefringence was ambiguous by PM.DiscussionThe FM‐TRITC filter is a highly accurate, sensitive, specific, with excellent predictive values, time‐efficient, easy to perform, and suitable to reproduce diagnostic modality for RA. It can accurately rule out RA in all compartments, and in most cases concomitant use of PM should not be indispensable. The diagnosis of vascular, interstitial, and glomerular amyloid deposits can be done using only the FM‐TRITC filter with Congo red‐stained slides. Exceptionally, a few cases of interstitial amyloidosis could be overdiagnosed due to interferences (e.g. artefacts), these cases could be further assessed with a second diagnostic modality if positive fluorescence is seen. Routine use of the FM‐TRITC filter can aid in the diagnosis of early RA, even when the deposits are inconspicuous by PM.

show abstract

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Diagnostic performance of fluorescence microscopy with a tetramethylrhodamine isothiocyanate filter in identifying renal amyloidosis

Pinedo Pichilingue,

Thayyil,

Dai

et al. 2023

Histopathology

View full text Add to dashboard Cite

show abstract

“…Estimates from 2015 revealed that the prevalence has increased from 15.5 to 40.5 cases per million, with a similar increase in incidence [ 2 ]. The renal system is commonly affected in most cases [ 3 ]. Clinical manifestations depend upon the location of amyloid deposition, with the common presentation being proteinuria to rarer forms, including nephrogenic diabetes insipidus [ 4 ].…”

Section: Introductionmentioning

confidence: 99%

A Case of Isolated Renal Light Chain Amyloidosis With Hematuria and Low Complement Levels

Javed¹,

Uday²

2023

Cureus

View full text Add to dashboard Cite

The prevalence of light chain (AL) amyloidosis, characterized by the deposition of amyloid chains, is gradually increasing. The clinical features of the disease depend upon the location of amyloid deposition and can manifest in many forms. Although laboratory investigations can reveal proteinuria and change in complement levels, hematuria and low complement levels are rarely reported. There are very few cases of renal AL amyloidosis presenting as persistent hematuria. We present the case of a 54-year-old female presenting with abdominal pain, proteinuria, and moderate persistent hematuria on admission who was later diagnosed with AL amyloidosis on biopsy.

show abstract

“…The diagnosis is often challenging for clinicians due to its misleading symptoms overlapping with other kidney-associated complications 8 . The histopathological signatures on the affected tissues are the only clinical hallmarks considered for confirming diagnosis 9, 10 .…”

Section: Introductionmentioning

confidence: 99%

Metabolomic fingerprinting for biomarker discovery in renal amyloidosis

Ghosh

Singh

Govil

et al. 2022

Preprint

View full text Add to dashboard Cite

Background Minimal change disease (MCD), a glomerular disease subtype is characterised by no visible change in the glomerulus upon light microscopy except for the urinary excretion of excess proteins. The symptoms of minimal change disease and renal amyloidosis are mostly overlapping and thereby misdiagnosed. However, the possible linkage between these two disease types has not been documented. We hypothesised that amyloid formation could be one of the players promoting the pathology associated with minimal change disease, resulting in perturbations of the downstream cellular pathways. Methods One hundred glomerular diseased patients were identified in a two-year study, based on symptoms and biochemical markers. Histopathological analysis showed predominance of minimal change disease in twenty patients. Further, gold standard Congo red staining was performed in these patients to detect amyloid deposition followed by tracking its downstream effects on cellular pathways using mass-spectrometry-based untargeted approach. Results Congo red staining showed presence of amyloid deposits in eleven minimal change diseased patients. Further, plasma metabolomic fingerprinting revealed a total of fifteen biologically important metabolites altered in minimal change diseased patients having renal amyloidosis as compared to controls. Different classes of lipids, carnitines and amino acids were found to be dysregulated in these patients. Conclusion In the present study we have shown the onset of renal amyloidosis and associated pathogenesis in minimal change diseased patients. Additionally, we have identified novel altered metabolic signatures in these patients as compared to controls. This is the first study in context to the Indian population, depicting the potential of metabolomic fingerprinting to identify novel markers for early diagnosis of amyloid formation in minimal change disease, a glomerular disease type.

show abstract

Renal Amyloidosis: Presentation, Diagnosis, and Management

Cited by 23 publications

References 32 publications

Diagnostic performance of fluorescence microscopy with a tetramethylrhodamine isothiocyanate filter in identifying renal amyloidosis

Diagnostic performance of fluorescence microscopy with a tetramethylrhodamine isothiocyanate filter in identifying renal amyloidosis

A Case of Isolated Renal Light Chain Amyloidosis With Hematuria and Low Complement Levels

Metabolomic fingerprinting for biomarker discovery in renal amyloidosis

Contact Info

Product

Resources

About