EJMCR |

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

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

Pubmed Style

Ravi Raju Tatapudi, Satyanarayana Rentala, Ramya Varada, Aruna Lakshmi Komarraju, Anusha Pusapati. Bardet-Biedl syndrome with chronic kidney disease-CKD G5: a rare case report from India. EJMCR. 2021; 22 (April 2021): 112-116. doi:10.24911/ejmcr/173-1596446937

Web Style

Ravi Raju Tatapudi, Satyanarayana Rentala, Ramya Varada, Aruna Lakshmi Komarraju, Anusha Pusapati. Bardet-Biedl syndrome with chronic kidney disease-CKD G5: a rare case report from India. https://ejmcr.com/articles/1323 [Access: December 25, 2024]. doi:10.24911/ejmcr/173-1596446937

AMA (American Medical Association) Style

Vancouver/ICMJE Style

Ravi Raju Tatapudi, Satyanarayana Rentala, Ramya Varada, Aruna Lakshmi Komarraju, Anusha Pusapati. Bardet-Biedl syndrome with chronic kidney disease-CKD G5: a rare case report from India. EJMCR. (2021), [cited December 25, 2024]; 22 (April 2021): 112-116. doi:10.24911/ejmcr/173-1596446937

Harvard Style

Ravi Raju Tatapudi, Satyanarayana Rentala, Ramya Varada, Aruna Lakshmi Komarraju, Anusha Pusapati (2021) Bardet-Biedl syndrome with chronic kidney disease-CKD G5: a rare case report from India. EJMCR, 22 (April 2021): 112-116. doi:10.24911/ejmcr/173-1596446937

Chicago Style

Ravi Raju Tatapudi, Satyanarayana Rentala, Ramya Varada, Aruna Lakshmi Komarraju, Anusha Pusapati. "Bardet-Biedl syndrome with chronic kidney disease-CKD G5: a rare case report from India." 22 (2021), 112-116. doi:10.24911/ejmcr/173-1596446937

MLA (The Modern Language Association) Style

Ravi Raju Tatapudi, Satyanarayana Rentala, Ramya Varada, Aruna Lakshmi Komarraju, Anusha Pusapati. "Bardet-Biedl syndrome with chronic kidney disease-CKD G5: a rare case report from India." 22.April 2021 (2021), 112-116. Print. doi:10.24911/ejmcr/173-1596446937

APA (American Psychological Association) Style

Ravi Raju Tatapudi, Satyanarayana Rentala, Ramya Varada, Aruna Lakshmi Komarraju, Anusha Pusapati (2021) Bardet-Biedl syndrome with chronic kidney disease-CKD G5: a rare case report from India. , 22 (April 2021), 112-116. doi:10.24911/ejmcr/173-1596446937