Abstract | BACKGROUND: METHODS: RESULTS: A unique frameshift insertion-deletion (indel) mutation was identified in one allele of her fibrinogen Aalpha chain gene, which encodes a partly novel peptide and a premature stop signal, similar to the two previously reported amyloidogenic point deletions at codons 522 and 524 in this molecule. The mutation was absent in samples verified to be from her parents, indicating that it had occurred de novo. CONCLUSION: This is the first description of hereditary fibrinogen Aalpha chain amyloidosis in an Asian individual, and the distinctive renal histology offered a strong clue to the diagnosis. The disease is potentially curable by combined hepatorenal transplantation.
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Authors | Hee Gyung Kang, Alison Bybee, Il Soo Ha, Moon Soo Park, Janet A Gilbertson, Hae Il Cheong, Yong Choi, Philip N Hawkins |
Journal | Kidney international
(Kidney Int)
Vol. 68
Issue 5
Pg. 1994-8
(Nov 2005)
ISSN: 0085-2538 [Print] United States |
PMID | 16221199
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- fibrinogen Aalpha
- Fibrinogen
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Topics |
- Amino Acid Sequence
- Amyloidosis, Familial
(genetics, pathology)
- Asian People
(genetics)
- Base Sequence
- Child
- Female
- Fibrinogen
(genetics)
- Frameshift Mutation
- Gene Deletion
- Humans
- Korea
- Molecular Sequence Data
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