The amyloidoses are protein-misfolding disorders associated with progressive organ dysfunction. Immunoglobulin light chain is the most common, amyloid A the longest recognized, and transthyretin-associated amyloidosis (ATTR) the most frequent inherited systemic form. Although ATTR, an autosomal-dominant disease, is associated with at least 100 different transthyretin (TTR) mutations, the single amino-acid substitution of methionine for valine at position 30 is the most common mutation. Each variant has a different organ involvement, although clinical differences attributed to environmental and genetic factors exist within the same mutation. Peripheral neuropathy and cardiomyopathy are broadly described, and insights into disease reveal that kidney impairment and proteinuria are also clinical features. This review combines clinical and laboratory findings of renal involvement from the main geographic regions of disease occurrence and for different mutations of TTR. Fifteen nephropathic variants have been described, but the TTR V30M mutation is the best documented. Nephropathy affects patients with late-onset neuropathy, low penetrance in the family, and cardiac dysrhythmias. Microalbuminuria can be the disorder's first presentat...Continue Reading
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Identification of S-sulfonation and S-thiolation of a novel transthyretin Phe33Cys variant from a patient diagnosed with familial transthyretin amyloidosis
A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves
Native state stabilization by NSAIDs inhibits transthyretin amyloidogenesis from the most common familial disease variants
Clinical and pathological studies of cardiac amyloidosis in transthyretin type familial amyloid polyneuropathy
Mice transgenic for human TTR have the same frequency of renal TTR deposition whether maintained in conventional or specific pathogen free environments
Changes in renal function in patients with familial amyloid polyneuropathy treated with orthotopic liver transplantation
End-stage renal disease and dialysis in hereditary amyloidosis TTR V30M: presentation, survival and prognostic factors
The long-term impact of liver transplantation on kidney function in familial amyloidotic polyneuropathy patients
Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: complexity in a single-gene disease
Value of renal biopsy in the prognosis of liver transplantation in familial amyloid polyneuropathy ATTR Val30Met patients
Clinical variability in type I familial amyloid polyneuropathy (Val30Met): comparison between late- and early-onset cases in Portugal
Diflunisal stabilizes familial amyloid polyneuropathy-associated transthyretin variant tetramers in serum against dissociation required for amyloidogenesis
Progressive wild-type transthyretin deposition after liver transplantation preferentially occurs onto myocardium in FAP patients
Orally administered diflunisal stabilizes transthyretin against dissociation required for amyloidogenesis
A novel type of familial transthyretin amyloidosis, ATTR Asn124Ser, with co-localization of kappa light chains
Urine proteins identified by two-dimensional differential gel electrophoresis facilitate the differential diagnoses of scrapie
Liver transplantation in transthyretin amyloidosis: Characteristics and management related to kidney disease
Discovery by a proteomic approach of possible early biomarkers of drug-induced nephrotoxicity in medication-overuse headache
Estimation of Daily Proteinuria in Patients with Amyloidosis by Using the Protein-To-Creatinine ratio in Random Urine Samples
Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm
Assessment of patients with hereditary transthyretin amyloidosis - understanding the impact of management and disease progression
Albumin/creatinine (uACR) and protein/creatinine (uPCR) ratios in spot urine samples can be used to evaluate albuminuria and proteinuria in hereditary transthyretin amyloidosis patients
Genetic improvement of Pacific white shrimp [Penaeus (Litopenaeus) vannamei]: perspectives for genomic selection
Phenome-wide association study of TTR and RBP4 genes in 361,194 individuals reveals novel insights in the genetics of hereditary and wildtype transthyretin amyloidoses
Peptide probes detect misfolded transthyretin oligomers in plasma of hereditary amyloidosis patients
Diagnosis and Treatment of Hereditary Transthyretin Amyloidosis (hATTR) Polyneuropathy: Current Perspectives on Improving Patient Care
Modern approaches to the treatment of amyloidosis: the critical importance of early detection in surgical pathology
Impact of genotype and phenotype on cardiac biomarkers in patients with transthyretin amyloidosis - Report from the Transthyretin Amyloidosis Outcome Survey (THAOS)
Pharmacological Stimulation of Phagocytosis Enhances Amyloid Plaque Clearance; Evidence from a Transgenic Mouse Model of ATTR Neuropathy
Life paths of patients with transthyretin-related familial amyloid polyneuropathy Val30Met: a descriptive study
Brazilian consensus for diagnosis, management and treatment of transthyretin familial amyloid polyneuropathy
Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis
End-stage renal failure due to transthyretin amyloidosis after liver transplantation: outcomes in 19 registry cases
First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy
Psychopathological Dimensions in Portuguese Subjects with Transthyretin Familial Amyloid Polyneuropathy
The Accumulation of Heparan Sulfate S-Domains in Kidney Transthyretin Deposits Accelerates Fibril Formation and Promotes Cytotoxicity
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