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
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.
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
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Correspondence to:
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, Chi ravitatapudi@gmail.com
Publication history:
Received 03 Aug 2020
Revised 26 Mar 2021
Accepted 06 Apr 2021
Published online 22 Apr 2021
Published in print 30 Apr 2021
Tatapudi RR, Rentala S, Varada R, Komarraju AL, Pusapati A. Bardet-Biedl syndrome with chronic kidney disease-CKD G5: a rare case report from India. EJMCR. 2021; 5(4): 112-116. doi:
10.24911/ejmcr/173-1596446937
Tatapudi RR, Rentala S, Varada R, Komarraju AL, Pusapati A. Bardet-Biedl syndrome with chronic kidney disease-CKD G5: a rare case report from India. https://www.ejmcr.com/?mno=119612 [Access: March 28, 2024]. doi:
10.24911/ejmcr/173-1596446937
Tatapudi RR, Rentala S, Varada R, Komarraju AL, Pusapati A. Bardet-Biedl syndrome with chronic kidney disease-CKD G5: a rare case report from India. EJMCR. 2021; 5(4): 112-116. doi:
10.24911/ejmcr/173-1596446937
Tatapudi RR, Rentala S, Varada R, Komarraju AL, Pusapati A. Bardet-Biedl syndrome with chronic kidney disease-CKD G5: a rare case report from India. EJMCR. (2021), [cited March 28, 2024]; 5(4): 112-116. doi:
10.24911/ejmcr/173-1596446937
Tatapudi, R. R., Rentala, . S., Varada, . R., Komarraju, . A. L. & Pusapati, . A. (2021) Bardet-Biedl syndrome with chronic kidney disease-CKD G5: a rare case report from India. EJMCR, 5 (4), 112-116. doi:
10.24911/ejmcr/173-1596446937
Tatapudi, Ravi Raju, Satyanarayana Rentala, Ramya Varada, Aruna Lakshmi Komarraju, and Anusha Pusapati. 2021. Bardet-Biedl syndrome with chronic kidney disease-CKD G5: a rare case report from India. European Journal of Medical Case Reports, 5 (4), 112-116. doi:
10.24911/ejmcr/173-1596446937
Tatapudi, Ravi Raju, Satyanarayana Rentala, Ramya Varada, Aruna Lakshmi Komarraju, and Anusha Pusapati. "Bardet-Biedl syndrome with chronic kidney disease-CKD G5: a rare case report from India." European Journal of Medical Case Reports 5 (2021), 112-116. doi:
10.24911/ejmcr/173-1596446937
Tatapudi, Ravi Raju, Satyanarayana Rentala, Ramya Varada, Aruna Lakshmi Komarraju, and Anusha Pusapati. "Bardet-Biedl syndrome with chronic kidney disease-CKD G5: a rare case report from India." European Journal of Medical Case Reports 5.4 (2021), 112-116. Print. doi:
10.24911/ejmcr/173-1596446937
Tatapudi, R. R., Rentala, . S., Varada, . R., Komarraju, . A. L. & Pusapati, . A. (2021) Bardet-Biedl syndrome with chronic kidney disease-CKD G5: a rare case report from India. European Journal of Medical Case Reports, 5 (4), 112-116. doi:
10.24911/ejmcr/173-1596446937