Clinical characteristics and SAP scintigraphic findings in 10 patients with AGel amyloidosis. (December 2014)

• Record Type: Journal Article
• Authors: Rowczenio, Dorota; Tennent, Glenys A.; Gilbertson, Janet; Lachmann, Helen J.; Hutt, David F.; Bybee, Alison; Hawkins, Philip N.; Gillmore, Julian D.
• Is Part Of: Amyloid. Volume 21:Number 4(2014:Dec.)
• Page Start: 276
• Page End: 281
• Publication Date: 2014-12
• Subjects: Amyloidosis -- Periodicals; 616.3995
• DOI: 10.3109/13506129.2014.973105
• Languages: English
• ISSNs: 1350-6129

Abstract

<abstract> <title>Abstract</title> <p>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 (<italic>GSN)</italic> 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 ¹²³I-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. ¹²³I-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. ¹²³I-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.</p> </abstract>