Adult classic Bartter syndrome: a case report with 5-year follow-up and literature review
Bartter syndrome (BS) is a rare, inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism, hypokalemia, hypochloremia, metabolic alkalosis, and low-to-normal blood pressure. Classic BS, or BS Type 3, the most common subtype in the Asian population, is caused by a mo...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
The Japan Endocrine Society
2024-05-01
|
| Series: | Endocrine Journal |
| Subjects: | |
| Online Access: | https://www.jstage.jst.go.jp/article/endocrj/71/5/71_EJ23-0631/_html/-char/en |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832591728545103872 |
|---|---|
| author | Le Jiang Dongmei Li Qiansha Guo Yunfeng Li Lei Zan Rihan Ao |
| author_facet | Le Jiang Dongmei Li Qiansha Guo Yunfeng Li Lei Zan Rihan Ao |
| author_sort | Le Jiang |
| collection | DOAJ |
| description | Bartter syndrome (BS) is a rare, inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism, hypokalemia, hypochloremia, metabolic alkalosis, and low-to-normal blood pressure. Classic BS, or BS Type 3, the most common subtype in the Asian population, is caused by a molecular defect in ClC-Kb, a voltage-gated chloride channel in renal tubules, due to CLCNKB gene mutation. Because the onset of BS is more common in children than in adults, the diagnosis, treatment outcomes, genotype/phenotype association, and follow-up of adult-onset BS Type 3 are limited. This case report describes the findings in a 20-year-old man who was admitted with hypokalemic paralysis, with clinical manifestations were similar to those of Gitelman syndrome (GS); however, the patient was later diagnosed to have BS Type 3 through genetic testing (NM_000085.4 (CLCNKB): c.1052G>T). A literature review showed that no homozygous mutations have been reported to date. After 5 years of treatment and follow-up, we found that this genotype requires high levels of potassium and is prone to urinary protein and metabolic syndrome. Distinguishing adult-onset BS from GS is challenging in clinical practice. However, genetic diagnosis can help solve this problem effectively, and genotypes play a guiding role in treatment planning. |
| format | Article |
| id | doaj-art-c13b8d309aba43adb2fd54fd92092e87 |
| institution | Kabale University |
| issn | 1348-4540 |
| language | English |
| publishDate | 2024-05-01 |
| publisher | The Japan Endocrine Society |
| record_format | Article |
| series | Endocrine Journal |
| spelling | doaj-art-c13b8d309aba43adb2fd54fd92092e872025-01-22T06:39:10ZengThe Japan Endocrine SocietyEndocrine Journal1348-45402024-05-0171553754210.1507/endocrj.EJ23-0631endocrjAdult classic Bartter syndrome: a case report with 5-year follow-up and literature reviewLe Jiang0Dongmei Li1Qiansha Guo2Yunfeng Li3Lei Zan4Rihan Ao5Department of Endocrinology, Inner Mongolia Autonomous Region People’s Hospital, Hohhot 010000, ChinaDepartment of Endocrinology, Inner Mongolia Autonomous Region People’s Hospital, Hohhot 010000, ChinaDepartment of Endocrinology, Inner Mongolia Autonomous Region People’s Hospital, Hohhot 010000, ChinaDepartment of Endocrinology, Inner Mongolia Autonomous Region People’s Hospital, Hohhot 010000, ChinaDepartment of Endocrinology, Inner Mongolia Autonomous Region People’s Hospital, Hohhot 010000, ChinaDepartment of Endocrinology, Inner Mongolia Autonomous Region People’s Hospital, Hohhot 010000, ChinaBartter syndrome (BS) is a rare, inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism, hypokalemia, hypochloremia, metabolic alkalosis, and low-to-normal blood pressure. Classic BS, or BS Type 3, the most common subtype in the Asian population, is caused by a molecular defect in ClC-Kb, a voltage-gated chloride channel in renal tubules, due to CLCNKB gene mutation. Because the onset of BS is more common in children than in adults, the diagnosis, treatment outcomes, genotype/phenotype association, and follow-up of adult-onset BS Type 3 are limited. This case report describes the findings in a 20-year-old man who was admitted with hypokalemic paralysis, with clinical manifestations were similar to those of Gitelman syndrome (GS); however, the patient was later diagnosed to have BS Type 3 through genetic testing (NM_000085.4 (CLCNKB): c.1052G>T). A literature review showed that no homozygous mutations have been reported to date. After 5 years of treatment and follow-up, we found that this genotype requires high levels of potassium and is prone to urinary protein and metabolic syndrome. Distinguishing adult-onset BS from GS is challenging in clinical practice. However, genetic diagnosis can help solve this problem effectively, and genotypes play a guiding role in treatment planning.https://www.jstage.jst.go.jp/article/endocrj/71/5/71_EJ23-0631/_html/-char/enhypokalemiabartter syndrome type 3adult-onsetclcnkb gene |
| spellingShingle | Le Jiang Dongmei Li Qiansha Guo Yunfeng Li Lei Zan Rihan Ao Adult classic Bartter syndrome: a case report with 5-year follow-up and literature review Endocrine Journal hypokalemia bartter syndrome type 3 adult-onset clcnkb gene |
| title | Adult classic Bartter syndrome: a case report with 5-year follow-up and literature review |
| title_full | Adult classic Bartter syndrome: a case report with 5-year follow-up and literature review |
| title_fullStr | Adult classic Bartter syndrome: a case report with 5-year follow-up and literature review |
| title_full_unstemmed | Adult classic Bartter syndrome: a case report with 5-year follow-up and literature review |
| title_short | Adult classic Bartter syndrome: a case report with 5-year follow-up and literature review |
| title_sort | adult classic bartter syndrome a case report with 5 year follow up and literature review |
| topic | hypokalemia bartter syndrome type 3 adult-onset clcnkb gene |
| url | https://www.jstage.jst.go.jp/article/endocrj/71/5/71_EJ23-0631/_html/-char/en |
| work_keys_str_mv | AT lejiang adultclassicbarttersyndromeacasereportwith5yearfollowupandliteraturereview AT dongmeili adultclassicbarttersyndromeacasereportwith5yearfollowupandliteraturereview AT qianshaguo adultclassicbarttersyndromeacasereportwith5yearfollowupandliteraturereview AT yunfengli adultclassicbarttersyndromeacasereportwith5yearfollowupandliteraturereview AT leizan adultclassicbarttersyndromeacasereportwith5yearfollowupandliteraturereview AT rihanao adultclassicbarttersyndromeacasereportwith5yearfollowupandliteraturereview |