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Hereditary systemic amyloidosis with renal involvement.

Philip N Hawkins1

  • 1National Amyloidosis Centre, Royal Free Hospital, London, UK. p.n.hawkins@rfc.ucl.ac.uk

Journal of Nephrology
|July 2, 2003
PubMed
Summary

Hereditary systemic amyloidosis involves abnormal protein deposits. A specific fibrinogen variant causes kidney disease, often misdiagnosed, highlighting the need for genetic testing in amyloidosis cases.

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Area of Science:

  • Nephrology
  • Genetics
  • Pathology

Background:

  • Hereditary systemic amyloidosis results from genetically altered protein deposits forming amyloid fibrils.
  • Renal involvement is common in hereditary amyloidosis, linked to mutations in genes for apolipoprotein AI, AII, lysozyme, or fibrinogen A alpha-chain.
  • These conditions are autosomal dominant with variable penetrance, manifesting clinically from adolescence to old age.

Purpose of the Study:

  • To precisely characterize hereditary amyloidosis for improved patient management and genetic counseling.
  • To elucidate the general pathogenesis of amyloid deposition.
  • To identify the prevalence and diagnostic challenges of hereditary fibrinogen A alpha-chain amyloidosis.

Main Methods:

  • Analysis of genetic mutations in patients with systemic amyloidosis.
  • Histopathological examination of renal biopsies.
  • DNA analysis for routine verification of fibril type in systemic amyloidosis.

Main Results:

  • Amyloidogenic variant proteins are less stable, prone to unfolding and aggregation into fibrils.
  • Hereditary fibrinogen A alpha-chain amyloidosis (V526 variant) is found in 5% of patients with apparent sporadic amyloidosis.
  • This specific mutation has low penetrance but characteristic renal histology: amyloid in glomeruli, absent in vessels/interstitium.

Conclusions:

  • Hereditary amyloidosis, particularly the fibrinogen A alpha-chain variant, can be misdiagnosed as acquired AL amyloidosis due to non-specific clinical presentation.
  • Characteristic renal histology and routine DNA analysis are crucial for diagnosing hereditary amyloidosis when AA or AL fibril types are unconfirmed.

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