The renal lesions in Bardet-Biedl Syndrome: history before and after the discovery of BBS genes


Various renal lesions of the Bardet-Biedl syndrome (BBS) have been described, including macroscopic and microscopic kidney abnormalities, polyuria, polydipsia and chronic renal failure. However, these renal symptoms were completely overlooked for about fifty years after the first description of the syndrome. The observation of a familial origin of the syndrome began in 1753, with Maupertuis and Réaumur describing hereditary forms of polydactyly. In the early 19th century, Martin mentioned an inherited case of blindness. Subsequently, von Graefe (1858) reported on a familial occurrence of both of blindness and deafness. The introduction of the ophthalmoscope by von Helmholtz (1851) allowed for the identification of patients with retinal degeneration. Systematically using this instrument, Laurence and Moon (1866) were the first to describe a familial case of retinal degeneration combined with obesity and cognitive impairment. Due to the influential work of Froehlich, Cushing, and Babinski, attention then shifted to obesity. The syndrome was definitively identified by 1920 through Bardet’s observations familial cases of obesity, blindness, polydactyly, and hypogonadism. Biedl in 1922 observed further cases of the syndrome. In recognition of this history, the disease was named Laurence-Moon-Bardet-Biedl Syndrome. The renal anomalies were not described until fifty years later, in 1977. In 1993, the quest for the genes involved in BBS began with the isolation of 21 different genes. In 2003 two concepts emerged: the existence of a spectrum of ‘ciliopathies’ and the concept of the BBSome. Afterwards, the gene-phenotype relationship was researched using transgenic mice.

Keywords: ciliopathies, hereditary, obesity, retinitis, chronic kidney disease

Ci spiace, ma questo articolo è disponibile soltanto in Inglese Americano.