Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP‐met30)

Clinical Genetics - Tập 40 Số 3 - Trang 242-246 - 1991
Gösta Holmgren1, Lars Steen2, Jan Ekstedt3, Carl‐Gustav Groth4, B.‐G. Ericzon4, Siv Eriksson5, Oluf Andersen6, Ingvar Karlberg7, Gunnela Nordén7, M Nakazato8, Philip N. Hawkins9, Suzanne Richardson9, Mark B. Pepys9
1Departments of: Clinical Genetics, University Hospital, Umeå
2Internal Medicine, University Hospital, Umeå
3Neurology, University Hospital, Umeå
4Departments of Transplantation Surgery, Huddinge Hospital, Stockholm
5Departments of Internal Medicine, Huddinge Hospital, Stockholm
6Departments of Neurology, Sahlgrenska Hospital, Gothenburg, Sweden
7Departments of Transplantation Centre, Sahlgrenska Hospital, Gothenburg, Sweden
8Departments of Medicine and Biochemistry of Miyazaki Medical College, Kiyotake, Miyazaki, Japan
9Department of Internal Medicine, Hammersmith Hospital, UK

Tóm tắt

Familial amyloidotic polyneuropathy (FAP) is an autosomal dominant inherited disorder characterized by progressive peripheral and autonomic neuropathy, associated with neural and systemic amyloid deposits. The amyloid fibrils contain a variant transthyretin (TTR) molecule (TTR met30), over 90% of which is produced in the liver. After liver transplantation in two patients with severe symptomatic FAP, only normal TTR was detectable in circulation. The two patients are being monitored at regular intervals, and, although in one patient there was no evidence of reduction in the quantity of amyloid present at 6 months, there had been no further progression of the neuropathy.

Từ khóa


Tài liệu tham khảo

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Thông tin xuất bản

Clinical Genetics

Tập 40 Số 3

242-246

Thông tin tác giả