Bardet-Biedl syndrome presenting in adulthood

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...

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Bibliographic Details
Published in:Indian journal of nephrology 2022-11, Vol.32 (6), p.633-636
Main Authors: Ankleshwaria, Chinmay, Prajapati, Bhavik, Parmar, Sarita, Rathod, Vraj, Patel, Harsh, Dhorajiya, Dixit, Chavda, Nirav, Parmar, Kapil, Pathan, Faiz, Chauhan, Minakshi
Format: Article
Language:English
Subjects:
Case Report
Chronic kidney failure
Genetic aspects
Kidney diseases
Medical research
Medicine, Experimental
Mental illness
Nephrology
Rare diseases
Type 2 diabetes
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Summary: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.
ISSN:0971-4065
1998-3662
DOI:10.4103/ijn.ijn_320_21