A Case of Childhood-Onset Bartter Syndrome Type 1 with Renal Dysfunction
Bartter syndrome (BS, OMIM #601678) is a rare inherited salt-losing tubulopathy characterized by hypokalemia metabolic alkalosis with secondary renin-angiotensin-aldosterone system activation. As reported, BS type 1 is generally presented prenatal and neonatal period, and symptoms usually appear bef...
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| Format: | Article |
| Language: | zho |
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Editorial Office of Journal of Rare Diseases
2024-01-01
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| Series: | 罕见病研究 |
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| Online Access: | https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2024.01.017 |
| _version_ | 1827338209253654528 |
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| author | PENG Xiaoyan CHEN Chaoying YANG Hongxian XIA Hua TU Juan |
| author_facet | PENG Xiaoyan CHEN Chaoying YANG Hongxian XIA Hua TU Juan |
| author_sort | PENG Xiaoyan |
| collection | DOAJ |
| description | Bartter syndrome (BS, OMIM #601678) is a rare inherited salt-losing tubulopathy characterized by hypokalemia metabolic alkalosis with secondary renin-angiotensin-aldosterone system activation. As reported, BS type 1 is generally presented prenatal and neonatal period, and symptoms usually appear before and after birth or in infancy, accompanied by severe salt loss, whilst kidney function remains mostly normal. In this study, we report a case of BS type 1 with childhood onset and proteinuria and renal impairment. The child was born preterm due to hyperamniotic fluid, but there were no apparent symptoms after birth until the age of 3 when the child began to present with polydipsia, polyuria and increased nocturnal uria. At the age of 5, she had elevated serum creatinine level and proteinuria. After admission, she was diagnosed with chronic tubulointerstitial disease and stage 2 chronic kidney disease(CKD). According to the chloride clearance test, the abnormal function of medullary thick ascending limb Henle′s loop, was confirmed and BS type 1 was diagnosed by gene sequencing. After active management of complications, kidney function of the child improved. In the long-term follow-up, the urinary protein amount of the child still increased, eGFR slowly decreased, and the child was currently in the CKD2 stage. Children with prenatal BS may not present typical clinical manifestations immediately after birth until the onset of relevant clinical symptoms in childhood. BS type 1 patients may have renal impairment, which needs to be identified in time. Clinical differentiation diagnosis between BS and Gitelman syndrome can be made by chloride clearance tests. Early diagnosis and treatment are critical to improve prognosis. |
| first_indexed | 2024-03-07T19:11:26Z |
| format | Article |
| id | doaj.art-83108c7d2fe74481af41b2cb29df497a |
| institution | Directory Open Access Journal |
| issn | 2097-0501 |
| language | zho |
| last_indexed | 2024-03-07T19:11:26Z |
| publishDate | 2024-01-01 |
| publisher | Editorial Office of Journal of Rare Diseases |
| record_format | Article |
| series | 罕见病研究 |
| spelling | doaj.art-83108c7d2fe74481af41b2cb29df497a2024-03-01T03:15:57ZzhoEditorial Office of Journal of Rare Diseases罕见病研究2097-05012024-01-013112413010.12376/j.issn.2097-0501.2024.01.017A Case of Childhood-Onset Bartter Syndrome Type 1 with Renal DysfunctionPENG XiaoyanCHEN ChaoyingYANG HongxianXIA HuaTU JuanBartter syndrome (BS, OMIM #601678) is a rare inherited salt-losing tubulopathy characterized by hypokalemia metabolic alkalosis with secondary renin-angiotensin-aldosterone system activation. As reported, BS type 1 is generally presented prenatal and neonatal period, and symptoms usually appear before and after birth or in infancy, accompanied by severe salt loss, whilst kidney function remains mostly normal. In this study, we report a case of BS type 1 with childhood onset and proteinuria and renal impairment. The child was born preterm due to hyperamniotic fluid, but there were no apparent symptoms after birth until the age of 3 when the child began to present with polydipsia, polyuria and increased nocturnal uria. At the age of 5, she had elevated serum creatinine level and proteinuria. After admission, she was diagnosed with chronic tubulointerstitial disease and stage 2 chronic kidney disease(CKD). According to the chloride clearance test, the abnormal function of medullary thick ascending limb Henle′s loop, was confirmed and BS type 1 was diagnosed by gene sequencing. After active management of complications, kidney function of the child improved. In the long-term follow-up, the urinary protein amount of the child still increased, eGFR slowly decreased, and the child was currently in the CKD2 stage. Children with prenatal BS may not present typical clinical manifestations immediately after birth until the onset of relevant clinical symptoms in childhood. BS type 1 patients may have renal impairment, which needs to be identified in time. Clinical differentiation diagnosis between BS and Gitelman syndrome can be made by chloride clearance tests. Early diagnosis and treatment are critical to improve prognosis.https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2024.01.017bartter syndrome type 1antenatal bartter syndromerenal dysfunctionproteinuria |
| spellingShingle | PENG Xiaoyan CHEN Chaoying YANG Hongxian XIA Hua TU Juan A Case of Childhood-Onset Bartter Syndrome Type 1 with Renal Dysfunction 罕见病研究 bartter syndrome type 1 antenatal bartter syndrome renal dysfunction proteinuria |
| title | A Case of Childhood-Onset Bartter Syndrome Type 1 with Renal Dysfunction |
| title_full | A Case of Childhood-Onset Bartter Syndrome Type 1 with Renal Dysfunction |
| title_fullStr | A Case of Childhood-Onset Bartter Syndrome Type 1 with Renal Dysfunction |
| title_full_unstemmed | A Case of Childhood-Onset Bartter Syndrome Type 1 with Renal Dysfunction |
| title_short | A Case of Childhood-Onset Bartter Syndrome Type 1 with Renal Dysfunction |
| title_sort | case of childhood onset bartter syndrome type 1 with renal dysfunction |
| topic | bartter syndrome type 1 antenatal bartter syndrome renal dysfunction proteinuria |
| url | https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2024.01.017 |
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