Amyloid nephropathy is an unusual manifestation of hereditary gelsolin amyloidosis and may present with proteinuria and progressive renal failure. We report the first case of renal transplantation in a patient with hereditary gelsolin amyloidosis complicated by end-stage renal disease. The patient was a 44-year-old man from the Northwest of Iran who had undergone hemodialysis for 1 year. He finally received a living, unrelated renal transplant. During a 6-year posttransplant period, the patient maintained stable allograft function without proteinuria. No significant infectious or cardiac complications were noted. Although a definite conclusion cannot be reached with a single case, this report may indicate that renal transplantation can be successfully attempted in patients with hereditary gelsolin amyloidosis and amyloid nephropathy. Renal transplantation has been performed in various hereditary, primary, and secondary amyloidoses. A brief review of this topic is presented.
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http://dx.doi.org/10.1097/MAJ.0b013e3181a4199c | DOI Listing |
Adv Kidney Dis Health
July 2024
Division of Nephrology, University Health Network, University of Toronto, Toronto, ON, Canada.
Amyloidosis is a complex group of rare disorders characterized by the deposition of misfolded proteins in the extracellular space of various tissues and organs, leading to progressive organ dysfunction. The kidneys constitute a very common site affected, most notably by immunoglobulin-mediated (light chain, heavy chain, and light and heavy chain amyloidosis), but other types that include serum amyloid A (AA) amyloidosis and leukocyte chemotactic factor 2 amyloidosis, along with mutant proteins in several hereditary forms of amyloidosis such as transthyretin, fibrinogen α-chain, gelsolin, lysozyme, and apolipoproteins AI/AII/AIV/CII/CIII amyloidosis have been incriminated as well. The clinical presentation is variable and can range from minimal proteinuria for leukocyte chemotactic factor 2 amyloidosis to a full-blown nephrotic syndrome for AA amyloidosis.
View Article and Find Full Text PDFActa Neurol Belg
December 2024
Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, Canada.
Hereditary gelsolin amyloidosis is an adult onset autosomal dominant disease with neurologic, ophthalmologic and dermatologic features that may be mistaken for Sjögren syndrome. We describe a case of a 68 year old female presenting with facial numbness and asymmetry, dry eyes, dry mouth and fatigue, originally diagnosed as Sjögren syndrome and treated with hydroxychloroquine. Due to her insidious progression of facial weakness with associated proximal muscle weakness she underwent a muscle biopsy, which demonstrated features of hydroxychloroquine induced myopathy and amyloid deposition.
View Article and Find Full Text PDFJ Neurol Sci
August 2024
Department of Neurology, University of Washington, Seattle, WA, USA.
Biomolecules
June 2024
Chemistry Section, Stockholm University, 10691 Stockholm, Sweden.
Hereditary transthyretin amyloidosis (hATTR) with polyneuropathy (formerly known as Familial Amyloid Polyneuropathy (FAP)) is an endemic amyloidosis involving the harmful aggregation of proteins, most commonly transthyretin (TTR) but sometimes also apolipoprotein A-1 or gelsolin. hATTR appears to be transmitted as an autosomal dominant trait. Over 100 point mutations have been identified, with the Val30Met substitution being the most common.
View Article and Find Full Text PDFEur J Ophthalmol
July 2024
Department of Ophthalmology, Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Rio de Janeiro, Brazil.
Introduction: Genetic mutations or inflammatory, degenerative, or neoplastic conditions can trigger amyloidosis. Hereditary gelsolin amyloidosis is a genetic disorder primarily marked by amyloid fibrils composed of misfolded gelsolin fragments.
Case Report: We present three sisters with AGel amyloidosis, illustrating its clinical diversity.
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