Adult-Onset Bartter Syndrome: A Case Report
Abstract
Introduction
Bartter syndrome is a rare genetically inherited salt-wasting disorder that is typically seen in children and neonates with association to many morbidities. We present a case of Bartter syndrome in an adult who showed excellent response to treatment.
Case presentation
The patient was a 23-year-old male presenting with polyuria, polydipsia, nocturia, and fatigue, especially within the lower limbs for the last two years but no history of vomiting. He was clinically diagnosed with Bartter syndrome and received conservative management with a good response.
Conclusion
Bartter syndrome is a rare disease. It has a wide range of clinical presentations. It can be diagnosed clinically and confirmed by genetic testing. Conservative management has a good clinical outcome.
References
- Liu J, Zhang Y, Wu X, Li Y. Bartter syndrome type III with glomerular dysplasia and chronic kidney disease: A case report. Frontiers in Pediatrics. 2023; 11:1169486. doi:10.3389/fped.2023.1169486
- Alla D, Kesineni MK, Vempati R, Patel H, Menezes S, Alla SS, Patel D, Gupta S, Patel K, Pradeep A, Menezes SB. A Rare Presentation of Adult-Onset Bartter Syndrome: A Case Report. Cureus. 2023; 15(3). doi:10.7759/cureus.36120
- Tian M, Peng H, Bi X, Wang YQ, Zhang YZ, Wu Y, Zhang BR. Late-Onset Bartter Syndrome Type II Due to a Novel Compound Heterozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review. Frontiers in Medicine. 2022; 9:862514. doi:10.3389/fmed.2022.862514
- Tamagawa E, Inaba H, Ota T, Ariyasu H, Kawashima H, Wakasaki H, Furuta H, Nishi M, Nakao T, Kaito H, Iijima K, Nakanishi K, Yoshikawa N, Akamizu T. Bartter syndrome type 3 in elderly complicated with adrenocorticotropin-deficiency. Endocr J. 2014;61(9):855-60. doi: 10.1507/endocrj. ej14-0125. Epub 201. PMID: 24965226. doi:10.1507/endocrj.ej14-0125
- Bokhari SRA, Zulfiqar H, Mansur A. Bartter Syndrome. [Updated 2022 Dec 24]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK442019/
- Naesens M, Steels P, Verberckmoes R, Vanrenterghem Y, Kuypers D. Bartter’s and Gitelman’s syndromes: from gene to clinic. Nephron Physiology. 2004; 96(3): p65-78. doi:10.1159/000076752
- Sampathkumar K, Muralidharan U, Kannan A, Ramakrishnan M, Ajeshkumar R. Childhood Bartter's syndrome: An Indian case series. Indian J Nephrol. 2010; 20(4):207-10. doi:10.4103%2f0971-4065.73455
- Abdel-al YK, Badawi MH, Yaeesh SA, Habib YQ, al-Khuffash FA, al-Ghanim MM, al-Najidi AK. Bartter's syndrome in Arabic children: review of 13 cases. Pediatr Int. 1999; 41(3):299-303. doi:10.1046/j.1442-200x.1999.01056.x
- Dillon MJ, Shah V, Mitchell MD. Bartter's syndrome: 10 cases in childhood. Results of long-term indomethacin therapy. Q J Med. 1979; 48(191):429-46. doi:10.1093/oxfordjournals.qjmed.a067585
- Choi N, Kim SH, Bae EH, Yang EM, Lee KH, Lee SH, Lee JH, Ahn YH, Cheong HI, Kang HG, Hyun HS. Long-term outcome of Bartter syndrome in 54 patients: A multicenter study in Korea. Frontiers in Medicine. 2023; 10:1099840. doi:10.3389/fmed.2023.1099840
- Saleem N, Nasir H, Hassan D, Manzoor M. Association of Adult-Onset Bartter Syndrome with Undifferentiated Connective Tissue Disorder. Cureus. 2021; 13(8): e17140. doi:10.7759/cureus.17140
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