Bardet-Biedl Syndrome Presenting in Adulthood

Area of Science:

• Genetics
• Rare Diseases
• Nephrology

Background:

• Bardet-Biedl syndrome (BBS) is an autosomal recessive genetic disorder with a low incidence, approximately 1:160,000.
• Fewer than 15 cases of BBS have been documented in India, making it exceptionally rare in the region.

Observation:

• A patient presented with acute breathlessness due to decompensated renal failure, exhibiting hallmark BBS features: polydactyly, central obesity, retinitis pigmentosa, end-stage renal disease, and mental retardation.
• Genetic analysis revealed a BBS genetic variant 9 (MIM#615896) classified as a variant of uncertain significance (VUS).

Findings:

• The patient received treatment for end-stage chronic renal failure, including hemodialysis.
• This case is notable for its rarity and the identification of a novel BBS genetic variant with currently unknown significance.

Implications:

• Bardet-Biedl syndrome is frequently diagnosed late, often only when end-stage renal failure develops.
• While timely diagnosis may not alter the disease course, it can significantly enhance the patient's quality of life.