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Misdiagnosing renal amyloidosis as minimal change disease

Rabya Hussain Sayed1, Janet Anne Gilbertson2, David Frederick Hutt2

  • 1National Amyloidosis Centre, UCL Medical School, London, UK Centre for Nephrology, Division of Medicine, Royal Free Campus, UCL Medical School, London, UK.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association
|July 14, 2014
PubMed
Abstract

Insights

Minimal change disease (MCD) can be misdiagnosed; renal amyloidosis is often missed without Congo red staining and electron microscopy. Early specialist review of suspicious cases prevents delayed diagnosis and improves outcomes.

Area of Science:

  • Nephrology
  • Pathology
  • Internal Medicine

Background:

  • Minimal change disease (MCD) is a common cause of adult nephrotic syndrome, characterized by normal light microscopy and negative immunohistology.
  • Foot process effacement is typical on electron microscopy (EM), while renal amyloidosis shows pathognomonic green birefringence with Congo red (CR) staining.
  • Delayed diagnosis of renal amyloidosis significantly impacts renal and patient survival.

Purpose of the Study:

  • To investigate the diagnostic challenges in differentiating Minimal Change Disease (MCD) from renal amyloidosis.
  • To assess the adequacy of standard diagnostic methods for identifying renal amyloidosis in patients initially diagnosed with MCD.

Main Methods:

  • Retrospective analysis of 2116 patients with confirmed renal amyloidosis between 2001 and 2013.
  • Focused review of 27 patients whose renal histology was initially interpreted as MCD.
  • Analysis of biopsy specimens and reports, including Congo red (CR) staining and electron microscopy (EM) findings.

Main Results:

  • Among 26 reviewed cases, the median age at MCD diagnosis was 62 years with proteinuria averaging 7.8 g/24 h.
  • A median delay of 241 days occurred between MCD and amyloidosis diagnoses.
  • Amyloid was detected retrospectively with CR staining in all 26 biopsies initially interpreted as MCD without CR.
  • Fibrils were identified on EM in all 10 cases initially diagnosed without EM.

Conclusions:

  • Routine Congo red (CR) staining and cross-polarized light examination of renal biopsies are crucial for diagnosing proteinuric adults.
  • Electron microscopy (EM) should be performed when indicated to detect amyloid fibrils.
  • Referral to specialist centers for review is recommended if renal amyloidosis is suspected despite initially negative histology, to avoid unnecessary repeat biopsies.
Keywords:
Congo red, electron microscopyminimal change diseaserenal amyloidosis

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