Long-term outcome of Bartter syndrome in 54 patients: A multicenter study in Korea
IntroductionBartter syndrome (BS) is a rare salt-wasting tubulopathy caused by mutations in genes encoding sodium, potassium, or chloride transporters of the thick ascending limb of the loop of Henle and/or the distal convoluted tubule of the kidney. BS is characterized by polyuria, failure to thriv...
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| Format: | Article |
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Frontiers Media S.A.
2023-03-01
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| Series: | Frontiers in Medicine |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fmed.2023.1099840/full |
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| author | Naye Choi Naye Choi Seong Heon Kim Seong Heon Kim Eun Hui Bae Eun Mi Yang Keum Hwa Lee Sang-Ho Lee Joo Hoon Lee Yo Han Ahn Yo Han Ahn Yo Han Ahn Hae Il Cheong Hee Gyung Kang Hee Gyung Kang Hee Gyung Kang Hee Gyung Kang Hye Sun Hyun Ji Hyun Kim Ji Hyun Kim |
| author_facet | Naye Choi Naye Choi Seong Heon Kim Seong Heon Kim Eun Hui Bae Eun Mi Yang Keum Hwa Lee Sang-Ho Lee Joo Hoon Lee Yo Han Ahn Yo Han Ahn Yo Han Ahn Hae Il Cheong Hee Gyung Kang Hee Gyung Kang Hee Gyung Kang Hee Gyung Kang Hye Sun Hyun Ji Hyun Kim Ji Hyun Kim |
| author_sort | Naye Choi |
| collection | DOAJ |
| description | IntroductionBartter syndrome (BS) is a rare salt-wasting tubulopathy caused by mutations in genes encoding sodium, potassium, or chloride transporters of the thick ascending limb of the loop of Henle and/or the distal convoluted tubule of the kidney. BS is characterized by polyuria, failure to thrive, hypokalemia, metabolic alkalosis, hyperreninemia, and hyperaldosteronism. Potassium and/or sodium supplements, potassium-sparing diuretics, and nonsteroidal anti-inflammatory drugs can be used to treat BS. While its symptoms and initial management are relatively well known, long-term outcomes and treatments are scarce.MethodsWe retrospectively reviewed 54 Korean patients who were clinically or genetically diagnosed with BS from seven centers in Korea.ResultsAll patients included in this study were clinically or genetically diagnosed with BS at a median age of 5 (range, 0–271) months, and their median follow-up was 8 (range, 0.5–27) years. Genetic diagnosis of BS was confirmed in 39 patients: 4 had SLC12A1 gene mutations, 1 had KCNJ1 gene mutations, 33 had CLCNKB gene mutations, and 1 had BSND mutation. Potassium chloride supplements and potassium-sparing diuretics were administered in 94% and 68% of patients, respectively. The mean dosage of potassium chloride supplements was 5.0 and 2.1 mEq/day/kg for patients younger and older than 18 years, respectively. Nephrocalcinosis was a common finding of BS, and it also improved with age in some patients. At the last follow-up of 8 years after the initial diagnosis, 41% had short stature (height less than 3rd percentile) and impaired kidney function was observed in six patients [chronic kidney disease (CKD) G3, n = 4; CKD G5, n = 2].ConclusionBS patients require a large amount of potassium supplementation along with potassium-sparing agents throughout their lives, but tend to improve with age. Despite management, a significant portion of this population exhibited growth impairment, while 11% developed CKD G3–G5. |
| first_indexed | 2024-03-13T08:17:45Z |
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| institution | Directory Open Access Journal |
| issn | 2296-858X |
| language | English |
| last_indexed | 2024-03-13T08:17:45Z |
| publishDate | 2023-03-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Medicine |
| spelling | doaj.art-7390a638d0da4dad894483491fd3f8d22023-05-31T13:54:30ZengFrontiers Media S.A.Frontiers in Medicine2296-858X2023-03-011010.3389/fmed.2023.10998401099840Long-term outcome of Bartter syndrome in 54 patients: A multicenter study in KoreaNaye Choi0Naye Choi1Seong Heon Kim2Seong Heon Kim3Eun Hui Bae4Eun Mi Yang5Keum Hwa Lee6Sang-Ho Lee7Joo Hoon Lee8Yo Han Ahn9Yo Han Ahn10Yo Han Ahn11Hae Il Cheong12Hee Gyung Kang13Hee Gyung Kang14Hee Gyung Kang15Hee Gyung Kang16Hye Sun Hyun17Ji Hyun Kim18Ji Hyun Kim19Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of KoreaDepartment of Pediatrics, Seoul National University Children's Hospital, Seoul, Republic of KoreaDepartment of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of KoreaDepartment of Pediatrics, Seoul National University Children's Hospital, Seoul, Republic of KoreaDepartment of Internal Medicine, Medical School, Chonnam National University, Gwangju, Republic of KoreaDepartment of Pediatrics, Chonnam National University Hospital, Gwangju, Republic of KoreaDepartment of Pediatrics, Yonsei University College of Medicine, Seoul, Republic of KoreaDepartment of Internal Medicine, Kyung Hee University Hospital at Gangdong, Seoul, Republic of KoreaDepartment of Pediatrics, Ulsan University Asan Medical Center, Seoul, Republic of KoreaDepartment of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of KoreaDepartment of Pediatrics, Seoul National University Children's Hospital, Seoul, Republic of KoreaKidney Research Institute, Seoul National University Medical Research Center, Seoul, Republic of KoreaDepartment of Pediatrics, Hallym University Sacred Heart Hospital, Anyang, Republic of KoreaDepartment of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of KoreaDepartment of Pediatrics, Seoul National University Children's Hospital, Seoul, Republic of KoreaKidney Research Institute, Seoul National University Medical Research Center, Seoul, Republic of Korea0Wide River Institute of Immunology, Seoul National University, Hongcheon, Republic of Korea1Department of Pediatrics, College of Medicine, St. Vincent's Hospital, The Catholic University of Korea, Seoul, Republic of KoreaDepartment of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea2Department of Pediatrics, Seoul National University Bundang Hospital, Seongnam, Republic of KoreaIntroductionBartter syndrome (BS) is a rare salt-wasting tubulopathy caused by mutations in genes encoding sodium, potassium, or chloride transporters of the thick ascending limb of the loop of Henle and/or the distal convoluted tubule of the kidney. BS is characterized by polyuria, failure to thrive, hypokalemia, metabolic alkalosis, hyperreninemia, and hyperaldosteronism. Potassium and/or sodium supplements, potassium-sparing diuretics, and nonsteroidal anti-inflammatory drugs can be used to treat BS. While its symptoms and initial management are relatively well known, long-term outcomes and treatments are scarce.MethodsWe retrospectively reviewed 54 Korean patients who were clinically or genetically diagnosed with BS from seven centers in Korea.ResultsAll patients included in this study were clinically or genetically diagnosed with BS at a median age of 5 (range, 0–271) months, and their median follow-up was 8 (range, 0.5–27) years. Genetic diagnosis of BS was confirmed in 39 patients: 4 had SLC12A1 gene mutations, 1 had KCNJ1 gene mutations, 33 had CLCNKB gene mutations, and 1 had BSND mutation. Potassium chloride supplements and potassium-sparing diuretics were administered in 94% and 68% of patients, respectively. The mean dosage of potassium chloride supplements was 5.0 and 2.1 mEq/day/kg for patients younger and older than 18 years, respectively. Nephrocalcinosis was a common finding of BS, and it also improved with age in some patients. At the last follow-up of 8 years after the initial diagnosis, 41% had short stature (height less than 3rd percentile) and impaired kidney function was observed in six patients [chronic kidney disease (CKD) G3, n = 4; CKD G5, n = 2].ConclusionBS patients require a large amount of potassium supplementation along with potassium-sparing agents throughout their lives, but tend to improve with age. Despite management, a significant portion of this population exhibited growth impairment, while 11% developed CKD G3–G5.https://www.frontiersin.org/articles/10.3389/fmed.2023.1099840/fullBartter syndromelong-term outcomefailure to thrivechronic kidney diseasenephrocalcinosisinherited hypokalemia |
| spellingShingle | Naye Choi Naye Choi Seong Heon Kim Seong Heon Kim Eun Hui Bae Eun Mi Yang Keum Hwa Lee Sang-Ho Lee Joo Hoon Lee Yo Han Ahn Yo Han Ahn Yo Han Ahn Hae Il Cheong Hee Gyung Kang Hee Gyung Kang Hee Gyung Kang Hee Gyung Kang Hye Sun Hyun Ji Hyun Kim Ji Hyun Kim Long-term outcome of Bartter syndrome in 54 patients: A multicenter study in Korea Frontiers in Medicine Bartter syndrome long-term outcome failure to thrive chronic kidney disease nephrocalcinosis inherited hypokalemia |
| title | Long-term outcome of Bartter syndrome in 54 patients: A multicenter study in Korea |
| title_full | Long-term outcome of Bartter syndrome in 54 patients: A multicenter study in Korea |
| title_fullStr | Long-term outcome of Bartter syndrome in 54 patients: A multicenter study in Korea |
| title_full_unstemmed | Long-term outcome of Bartter syndrome in 54 patients: A multicenter study in Korea |
| title_short | Long-term outcome of Bartter syndrome in 54 patients: A multicenter study in Korea |
| title_sort | long term outcome of bartter syndrome in 54 patients a multicenter study in korea |
| topic | Bartter syndrome long-term outcome failure to thrive chronic kidney disease nephrocalcinosis inherited hypokalemia |
| url | https://www.frontiersin.org/articles/10.3389/fmed.2023.1099840/full |
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