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Transthyretin familial amyloid polyneuropathy (TTR-FAP) is an autosomal dominant disease caused by mutations in the transthyretin gene, with the most common mutation being V30M (single amino acid substitution of methionine for valine at position 30). Although each TTR variant has a different clinical presentation, peripheral neuropathy and cardiomyopathy are the most common manifestations. Renal impairment is not quite common. Initially thought to be a disease of benign evolution with respect to the kidneys, it was later found that progression to end-stage renal disease occurs in 10% of patients as a natural course of the disease. The detection and prognosis of TTR-FAP nephropathy depend on the presence of albuminuria and increased serum creatinine. Vegetative dysfunction, manifested as sexual disorders or urinary infections, is also common. Nephropathy does not correlate with age, duration of disease or severity of neuropathy. We hereby present a case report of a patient with TTR-FAP, genetically proven by DNA analysis, followed up at the Nephrology Department, University Hospital “St. George”, Plovdiv, for a period of 4 years.

Клинико-терапевтично наблюдение при пациент с транстиретинова фамилна амилоидна полиневропатия (4-годишно проследяване)