Hereditary renal amyloidosis caused by a heterozygous G654A gelsolin mutation: a report of two cases

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 amyl...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Clin Kidney J
Prif Awduron: Yamanaka, Shuichiro, Miyazaki, Yoichi, Kasai, Kenji, Ikeda, Shu-ichi, Kiuru-Enari, Sari, Hosoya, Tatsuo
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Oxford University Press 2013
Pynciau:
Original Contributions
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4432447/
https://ncbi.nlm.nih.gov/pubmed/26019848
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/ckj/sft007
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