PubMed Health⌕ Search

PubMed · 8059145

[Hereditary amyloidosis].

Abstract

Amyloidoses are characterized by the deposition of non soluble proteins in tissues. Clinical aspects of hereditary amyloidoses are very diverse, and they offer many diagnosis problems to the physician. Biochemical and genetic aspects are also various. Several proteins are implicated in these hereditary diseases mainly: transthyretin, apolipoprotein A1, gelsolin, fibrinogen alpha chain and lysozyme. Studies on structural changes induced by the mutations in the transthyretin should bring new data relevant to our understanding of the amyloidogenic process. Transgenic mice with mutated transthyretin are a good model and will allow new pathogenic approach and therapeutic intervention.

Explore related subjects

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

G Grateau. 1994. [Hereditary amyloidosis].. https://doi.org/10.1016/s0248-8663(94)80029-4

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

[Case of rheumatoid arthritis with various histological lesions of the kidney].

We experienced a case of rheumatoid arthritis with nephrotic syndrome. A renal biopsy specimen from this patient showed various renal histological changes. The patient was a 50-year-old man who was diagnosed as having rheumatoid arthritis in 1987. We performed a renal biopsy because he had persistent proteinuria from March in 2002. The renal biopsy specimen showed amyloid AA and P protein deposition in the glomeruli. Moreover mild mesangial proliferation was recognized. IgA-deposition in the mesangial area, and granular-deposition of IgG along the glomerular capillary wall were also observed. In electron microscopy, electron dense deposits were recognized in the mesangial area and subepithelium of the glomerular basement membrane. From these findings, we diagnosed amyloid nephropathy, IgA nephritis and membranous nephropathy. Renal biopsy of patients with RA is useful not only for precise diagnosis, but also for selection of the appropriate treatment.

Amyloid Neuropathies↗

Axoval neuropathy as initial manifestation of primary amyloidosis: report of a case submitted to bone marrow transplantation.

Amyloidosis is a syndrome characterized by deposition of a highly insoluble protein material in the extracellular space that may affect several organs. It may be generalized and idiopathic (primary amyloidosis). We describe the case of a 48 years-old woman with axonal neuropathy associated with proteinuria, whose final investigation resulted in diagnosis of primary amyloidosis (AL). She was submitted to autologous bone marrow transplantation. We discuss some aspects related to diagnosis of neuropathy and current treatment of AL.

Amyloid Neuropathies↗