Indian Journal of Nephrology About us |  Subscription |  e-Alerts  | Feedback | Login   
  Print this page Email this page   Small font sizeDefault font sizeIncrease font size
 Home | Current Issue | Archives| Ahead of print | Search |Instructions |  Editorial Board  

Users Online:349

Official publication of the Indian Society of Nephrology
 ~   Next article
 ~   Previous article
 ~   Table of Contents

 ~   Similar in PUBMED
 ~  Search Pubmed for
 ~  Search in Google Scholar for
 ~Related articles
 ~   Citation Manager
 ~   Access Statistics
 ~   Reader Comments
 ~   Email Alert *
 ~   Add to My List *
 * Requires registration (Free)

 Article Access Statistics
    PDF Downloaded56    
    Comments [Add]    

Recommend this journal


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
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijn.ijn_320_21

Rights and Permissions

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.


Print this article     Email this article

Indian Journal of Nephrology
Published by Wolters Kluwer - Medknow
Online since 20th Sept '07