Case Report
Volume: 5 | Issue: 4 | Published: Apr 22, 2021 | Pages: 112 - 116 | DOI: 10.24911/ejmcr/173-1596446937
Bardet-Biedl syndrome with chronic kidney disease-CKD G5: a rare case report from India
Authors: Ravi Raju Tatapudi , Satyanarayana Rentala , Ramya Varada , Aruna Lakshmi Komarraju , Anusha Pusapati
Article Info
Authors
Ravi Raju Tatapudi
Distinguished Professor, GITAM Institute of Medical Sciences and Research, GITAM (Deemed to be University), Visakhapatnam, India, Department of Health Informatics and Analytics, Apollo Hospitals Educational and Research Foundation, Chittoor, India
Satyanarayana Rentala
Department of Health Informatics and Analytics, Apollo Hospitals Educational and Research Foundation, Chittoor, India
Ramya Varada
Department of Endocrinology, Apollo Hospitals, Visakhapatnam, India
Aruna Lakshmi Komarraju
Department of Biotechnology, GITAM (Deemed to be University), Visakhapatnam, India
Anusha Pusapati
Department of Biotechnology, GITAM (Deemed to be University), Visakhapatnam, India.
Publication History
Received: August 03, 2020
Revised: March 26, 2021
Accepted: April 06, 2021
Published: April 22, 2021
Abstract
Background: Bardet-Biedl Syndrome (BBS) is a rare autosomal ciliopathy disorder caused by mutations in genes encoding the proteins localized in primary cilia or basal body complex resulting in derangement of functions of various systemic organs containing cilia. The syndrome is characterized by classic phenotype features. Renal failure is a major cause of morbidity and mortality in these patients and early detection offers disease management benefit. Case Presentation: We report for the first time in India, a case of BBS in advanced renal failure chronic kidney disease due to mutation in BBS12 gene, confirmed by next-generation sequencing. We also present clinical data, molecular genetics, and treatment of BBS. Conclusion: Early diagnosis will help in the management of renal failure, thereby progression of the disease may be retarded. Further genetic mutations in all BBS genes can be studied by routine genotyping of all patients and followed up clinically.
Keywords: Bardet-Biedl syndrome, BBS gene, chronic kidney disease, green
