title: Hereditary renal amyloidosis caused by a heterozygous G654A gelsolin mutation: a report of two cases.
abstract: Finnish-type familial amyloidosis (FAF) is a rare hereditary systemic amyloidosis that mainly exhibits cranial neuropathy. We describe a Japanese family with FAF manifested predominantly as renal amyloidosis. The proband was a 42-year-old woman with a 21-year history of proteinuria due to renal amyloidosis. Her mother was subsequently diagnosed with a similar disorder. After the first renal biopsy, both patients were followed up routinely for a period of 14 years. Genetic analysis of DNA samples revealed a heterozygous G654A gelsolin mutation. Severe renal involvement has not been reported previously in patients with FAF bearing a heterozygous gelsolin mutation.
authors.affiliation: Division of Regenerative Medicine , Jikei University School of Medicine , Tokyo , Japan ; Division of Kidney and Hypertension, Department of Internal Medicine , Jikei University School of Medicine , Tokyo , Japan.
authors.forename: Shuichiro
authors.initials: S
authors.lastname: Yamanaka
authors.affiliation: Division of Kidney and Hypertension, Department of Internal Medicine , Jikei University School of Medicine , Tokyo , Japan.
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Miyazaki
authors.affiliation: Departmentment of Internal Medicine , Fuji City General Hospital , Fuji , Japan.
authors.forename: Kenji
authors.initials: K
authors.lastname: Kasai
authors.affiliation: Department of Medicine (Neurology and Rheumatology) , Shinshu University School of Medicine , Matsumoto , Japan.
authors.forename: Shu-Ichi
authors.initials: S
authors.lastname: Ikeda
authors.affiliation: Department of Neurology , University of Helsinki, Helsinki University Central Hospital , Finland.
authors.forename: Sari
authors.initials: S
authors.lastname: Kiuru-Enari
authors.affiliation: Division of Kidney and Hypertension, Department of Internal Medicine , Jikei University School of Medicine , Tokyo , Japan.
authors.forename: Tatsuo
authors.initials: T
authors.lastname: Hosoya
keywords: Finnish-type familial amyloidosis (FAF); gelsolin; hereditary renal amyloidosis; nephrotic syndrome