Which deficiency is associated with Bardet-Biedl syndrome?

Bardet-Biedl syndrome is a genetic disorder that affects multiple systems in the body, and it is characterized by a range of clinical manifestations, including obesity, retinal degeneration, polydactyly, renal anomalies, and developmental delays. One of the key renal issues associated with Bardet-Biedl syndrome is nephronophthisis, which is a form of childhood-onset kidney disease characterized by progressive renal fibrosis and tubular damage, leading to chronic kidney disease.

The association of nephronophthisis with Bardet-Biedl syndrome arises due to the underlying genetic alterations. Many of the genes involved in Bardet-Biedl syndrome play important roles in ciliary function, and defects in ciliary structure and function can lead to a variety of developmental issues, including those affecting the kidneys. Nephronophthisis, as a ciliopathy, falls in line with the broader category of disorders related to impaired ciliary function.

In contrast, vitamin D deficiency, hematologic deficiencies, and neurologic impairment, while they may occur in different contexts, are not hallmark features of Bardet-Biedl syndrome. These conditions do not encompass the specific genetic and pathophysiological changes that define the syndrome and do not directly translate to the major