The deposition of β2-microglobulin induced by reactive inflammation causing carpal tunnel syndrome (CTS) is one of the complications of dialysis-related amyloidosis in maintenance hemodialysis (MHD) patients.
Classic clinical manifestations of HNPP are characterized by recurrent painless mononeuropathies, but a minority of patients present with an atypical clinical pattern, including CMT-like neuropathy, acute or chronic inflammatory demyelinating neuropathy-like polyneuropathy, and carpal tunnel syndrome.
The scenarios involve glutathione-S-transferase theta 1 (GSTT1) and hematopoietic cancer in hospital workers, human leukocyte antigen coding for glutamic acid in the 69th position (HLA DPB1(E69)) and chronic beryllium disease in beryllium workers, and peripheral myelin protein 22 (PMP22) deletion and carpal tunnel syndrome in railroad track workers.
A review of the scientific literature indicated that neither the scientific basis nor the population validity of the PMP22 or TTR tests for carpal tunnel syndrome were adequately established before use on railroad track workers in 2000.
The family members with deletions of PMP22 have abnormalities indicative of carpal tunnel syndrome, documented by electrophysiological studies prior to molecular analysis.
Dialysis-related amyloidosis as represented by carpal tunnel syndrome is a serious complication of long-term dialysis treatment of patients with chronic renal failure. beta 2-microglobulin has been identified as a structural component of the amyloid deposits, but other factors also are associated with amyloid formation.
The occurrence of various arthropathies including carpal-tunnel syndrome (CTS) in dialysis-associated amyloidosis, a condition caused by the deposition of beta 2 microglobulin (beta 2MG), has been emphasized for several years.
Prospective evaluation of finger two-point discrimination and carpal tunnel syndrome among women with breast cancer receiving adjuvant aromatase inhibitor therapy.
Further gene expression analysis of known CTS fibrosis markers collagen type I A2 (Col1), collagen type III A1 (Col3), connective tissue growth factor (CTGF), and SERPINE1 showed significantly down-regulation after TβRI inhibition.
At the 12q24 locus, the Proteasome-Modulator 9 (PSMD9) single nucleotide polymorphisms (SNPs) rs74421874 [intervening sequence (IVS) 3+nt460-G>A], rs3825172 (IVS3+nt437-C>T) and rs14259 (rs14259;rs765798193" genes_norm="5715">E197G-A>G) are linked to: T2D, depression, anxiety, maturity-onset-diabetes-of the young 3/MODY3, obesity, waist circumference, hypertension, hypercholesterolemia, T2D-macrovascular disease, T2D-microvascular disease, T2D-neuropathy, T2D-carpal-tunnel syndrome, T2D-nephropathy, T2D-retinopathy and non-diabetic retinopathy.
One hundred and three self-reported Coloured participants, with a history of carpal tunnel release surgery (CTS) and 149 matched control participants (CON) without any reported history of CTS symptoms were genotyped for the functional IL-1βrs16944 (-511C/T), IL-6 rs1800795 (-174G/C), IL-6R rs2228145 (C/A) and VEGFA rs699947 (-2578C/A) variants.
One hundred and three self-reported coloured participants, with a history of carpal tunnel release surgery (CTS) and 150 matched control (CON) participants without any reported history of CTS symptoms were genotyped for the COL5A1rs13946 (C/T), rs14774622 (C/T)/rs55748801 (G/A) (W/M where W = CG), rs12722 (C/T) and rs71746744 (-/AGGG) variants.
In conclusion this is the first study to report that variants within the BGN gene, independently and by interacting with COL5A1 variants, are associated with CTS.