The cause of KBD remains controversial. Studies of the pathogenesis and risk factors of KBD have proposed selenium deficiency, inorganic (e.g. manganese, phosphate) and organic matter (humic and fulvic acids) in drinking water, and fungi on self-produced storage grain (Alternaria sp., Fusarium sp.) producing trichotecene (T2) mycotoxins. Most authors accept that the cause of KBD is multifactorial, selenium deficiency being the underlying factor that predisposes the target cells (chondrocytes) to oxidative stress from free-radical carriers, such as mycotoxins in storage grain and fulvic acid in drinking water. In Tibet, epidemiological studies carried out in 1995–1996 by MSF and coll. showed that KBD was associated with iodine deficiency and with fungal contamination of barley grains by Alternaria sp., Trichotecium sp., Cladosporium sp. and Drechslera sp. Indications existed as well with respect to the role of organic matters in drinking water. A severe selenium deficiency was documented as well, but selenium status was not associated with the<unk> , suggesting that selenium deficiency alone could not explain the occurrence of KBD in the villages under study. An association with the gene Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1 Beta (PPARGC1B) has been reported. This gene is a transcription factor and mutations in this gene would be expected to affect several other genes.
Kashin–Beck disease
Kufor–Rakeb syndrome
Mowat–Wilson syndrome
Zunich–Kaye syndrome
Qazi–Markouizos syndrome
Wilson–Mikity syndrome
Gerstmann–Sträussler–Scheinker syndrome
Scheie syndrome