Familial amyloidosis in one Chinese family: clinical, immunological, and molecular genetic analysis.

Abstract

Three members of a Taiwanese kindred developed severe, systemic, early onset (< age 25 years), biopsy-proven amyloidosis. Clinical features included upper and lower extremity sensorimotor neuropathy, abdominal pain, vomiting, corneal ulcerations, cardiomyopathy, and syncope. Immunohistochemical analysis indicated that the deposits consisted of transthyretin. Molecular genetic studies revealed a heterozygous codon 55 point mutation, resulting in a proline for leucine-substitution, a mutation previously associated with aggressive familial amyloidosis in a US kindred of Dutch and German descent. The clinical courses and echocardiographic findings are typical for many types of amyloidosis; the pathologic data and genetic studies were necessary to establish a precise diagnosis.

• Authors: C T Chou, C C Lee, D M Chang, J N Buxbaum, D R Jacobson
• Journal: Journal of internal medicine (J Intern Med) Vol. 241 Issue 4 Pg. 327-31 (Apr 1997) ISSN: 0954-6820 [Print] England
• PMID: 9159604 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Prealbumin

Topics

• Adult
• Age of Onset
• Amyloidosis (ethnology, genetics, immunology, pathology)
• Asian People (genetics)
• Fatal Outcome
• Female
• Humans
• Pedigree
• Point Mutation
• Polymerase Chain Reaction
• Prealbumin (metabolism)
• Taiwan