title: Clinical characteristics and SAP scintigraphic findings in 10 patients with AGel amyloidosis.
abstract: The clinical features of hereditary gelsolin (AGel) amyloidosis include corneal lattice dystrophy, distal sensorimotor, cranial neuropathy and cutis laxa. To date, four mutations of the gelsolin (GSN) gene encoding the following variants have been identified as the cause of this malady; p.D214N, p.D214Y, p.G194R and p.N211K (this nomenclature includes the 27-residue signal peptide). Interestingly, the latter two variants are associated exclusively with a renal amyloidosis phenotype. Here we report the clinical features in 10 patients with AGel amyloidosis associated with the p.D214N mutation, all of whom underwent whole body (123)I-SAP scintigraphy and were followed up in a single UK Centre for a prolonged period. Two patients, from the same kindred presented with proteinuria; eight subjects had a characteristic AGel amyloidosis phenotype including cranial neuropathy and/or corneal lattice dystrophy. (123)I-SAP scintigraphy revealed substantial renal amyloid deposits in all 10 patients, including those with preserved renal function, and usually without tracer uptake into other visceral organs. (123)I-SAP scintigraphy is a non-invasive technique that aids early diagnosis of patients with this rare disease, especially those who lack a family history and/or present with an unusual clinical phenotype.
authors.affiliation: Department of Medicine, National Amyloidosis Centre, Centre for Amyloidosis and Acute Phase Proteins, Hampstead Campus, Royal Free Campus, UCL Medical School , London , UK.
authors.forename: Dorota
authors.initials: D
authors.lastname: Rowczenio
authors.forename: Glenys A
authors.initials: GA
authors.lastname: Tennent
authors.forename: Janet
authors.initials: J
authors.lastname: Gilbertson
authors.forename: Helen J
authors.initials: HJ
authors.lastname: Lachmann
authors.forename: David F
authors.initials: DF
authors.lastname: Hutt
authors.forename: Alison
authors.initials: A
authors.lastname: Bybee
authors.forename: Philip N
authors.initials: PN
authors.lastname: Hawkins
authors.forename: Julian D
authors.initials: JD
authors.lastname: Gillmore
mesh_terms: D000368:Aged; D000686:Amyloidosis / Q000000981:diagnostic imaging / Q000473:pathology*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D011877:Radionuclide Imaging; D053719:Tandem Mass Spectrometry
keywords: 123I-SAP scintigraphy; corneal lattice dystrophy; cranial neuropathy; hereditary gelsolin (AGel) amyloidosis; renal amyloid