Clinical and histopathological features of familial amyloidotic polyneuropathy with transthyretin Val30Ala in a Chinese family

Clinical features of familial amyloid polyneuropathy carrying transthyretin mutations in four Chinese kindreds

“…However, TTR‐FAP is now believed to have worldwide distribution (Benson and Kincaid, ) . More and more TTR‐FAP patients in Han Chinese people have been reported (Table ) (Yamamoto et al , ; Chou et al , ; Lachmann et al , ; Li et al , , ; Lim et al , ; Mak et al , , ; Liu et al , , , ; Yang et al , ; Chen et al , ; Zhang et al , , ; Long et al , ; Zou et al , ; Lv et al , ; Meng et al , ) . Here, we identified four different TTR heterozygous mutations already known to be associated with FAP in four unrelated families and among them, mutations Thr49Ala(p.Thr69Ala) and Tyr116Ser(p.Tyr136Ser) were detected for the first time in the Chinese population.…”

Ophthalmic manifestations in a Chinese family with familial amyloid polyneuropathy due to a TTR Gly83Arg mutation

“…4,11 In China, only six pathogenic TTR variants (Gly54Arg, Gly83Arg, Lys35Thr, Leu55Arg, Val30Ala, Y114C) have been reported, and hot spots of TTR mutations have not yet been identified. [12][13][14][15][16][17] Here, we describe the clinical manifestations, management, and long-term follow-up of a large Chinese family with a heterozygous missense mutation in TTR Gly83Arg (c.307 C4G).…”

Urine: Waste product or biologically active tissue?

“…A precedent has been set for the idea of nutritionally derived urinary substances influencing pain symptoms; however, the required blinded, randomized, controlled trials to demonstrate causal links have not been conducted. Food gluten neuropathy and its dietary management has been associated with urinary symptoms, implicating gluten metabolic byproducts, immunological/allergic reactions, or a shared system of neuronal development and function between the gut and bladder . It is well established that caffeine increases bladder muscle activity, and carbonation or spicy and acidic flavors reportedly trigger symptoms, especially in patients with IC/BPS .…”

“…Food gluten neuropathy and its dietary management has been associated with urinary symptoms, implicating gluten metabolic byproducts, immunological/allergic reactions, or a shared system of neuronal development and function between the gut and bladder. [58][59][60][61][62][63][64] It is well established that caffeine increases bladder muscle activity, 65 and carbonation or spicy and acidic flavors reportedly trigger symptoms, especially in patients with IC/ BPS. [66][67][68] Additionally, it is possible that exosomes might mediate communication from the kidney or bladder to other cells, perhaps by endocytosis, transferring content, and altering cellular behavior as a means of communication.…”