Familial case of hereditary transthyretin amyloidosis with polyneuropathy (ATTR amyloidosis)
https://doi.org/10.25557/2073-7998.2023.12.67-71
Abstract
A family case of hereditary transthyretin amyloidosis is described. A clinical examination and molecular genetic testing of a 50-year- old patient, his 44-year-old brother and his 30-year-old son with symptoms of polyneuropathy, indigestion and urination were carried out. All three patients had a pathogenic variant of the nucleotide sequence c.199G>C (p.(Gly67Arg), p.(G67R) in exon 2 of the TTR gene in the heterozygous state. This variant was described in hereditary transthyretin familial amyloidosis. Еstablishing an accurate diagnosis for patients with symptoms of polyneuropathy of unclear genesis will allow effective preventive measures, minimize the risk of complications and conduct timely medical and genetic counseling for family.
About the Authors
P. D. Lashevich
Research Institute Regional Clinical Hospital No. 1
Russian Federation
Russian Federation
167, 1 Maya st., Krasnodar, 350000
S. A. Matulevich
Research Institute Regional Clinical Hospital No. 1
Russian Federation
Russian Federation
167, 1 Maya st., Krasnodar, 350000
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Review
For citations:
Lashevich P.D., Matulevich S.A. Familial case of hereditary transthyretin amyloidosis with polyneuropathy (ATTR amyloidosis). Medical Genetics. 2023;22(12):67-71. (In Russ.) https://doi.org/10.25557/2073-7998.2023.12.67-71
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