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 CASE REPORT
Year : 2022  |  Volume : 32  |  Issue : 6  |  Page : 633-636

Bardet–Biedl syndrome presenting in adulthood


Department of Internal Medicine, Civil Hospital, Ahmedabad, Gujarat, India

Correspondence Address:
Bhavik Prajapati
C203, Aastha Emerald, Near Neelkanth Mahadev Temple, Behind Rannapark Bus Stand, Naranpura, Ahmedabad – 380 013, Gujarat
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijn.ijn_320_21

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Bardet–Biedl syndrome (BBS) is a rare disorder with a frequency of 1:1,60,000. The disease is inherited in an autosomal recessive manner. Less than 15 cases have been reported from India. We present a case of Bardet–Biedl syndrome presenting to the medical emergency with acute breathlessness because of de-compensated renal failure and salient features such as marked polydactyly, central obesity, retinitis pigmentosa, end-stage renal diseases, and mental retardation. Genetic study showed that the patient had BBS genetic variant 9 (MIM#615896), VUS variant. The patient was primarily treated for end-stage chronic renal failure with hemodialysis. We are reporting this case for its rarity and the presence of a novel genetic variant of an unidentified significance as per genome mapping. BBS is often not diagnosed at all or diagnosed late until end-stage renal failure sets in. Timely diagnosis might not help treat the condition but surely improve the quality of life for the patient.






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Indian Journal of Nephrology
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Online since 20th Sept '07