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- Title
Hereditary renal amyloidosis caused by a heterozygous G654A gelsolin mutation: a report of two cases.
- Authors
Yamanaka, Shuichiro; Miyazaki, Yoichi; Kasai, Kenji; Ikeda, Shu-ichi; Kiuru-Enari, Sari; Hosoya, Tatsuo
- 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.
- Subjects
PROTEIN metabolism disorders; LYMPHOPROLIFERATIVE disorders
- Publication
Clinical Kidney Journal, 2013, Vol 6, Issue 2, p189
- ISSN
2048-8505
- Publication type
Case Study
- DOI
10.1093/ckj/sft007