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.