Bartter Syndrome, 15-year Experience in the United Kingdom

Kaur, Amrit; Webb, Nicholas J.A.; Shenoy, Mohan; Hulton, Sally‐Anne

doi:10.21767/2380-7245.100173

Cited by 4 publications

(13 citation statements)

References 23 publications

(39 reference statements)

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“…The dose of potassium is not exactly known, but a target level of plasma potassium may be 3.0 mEq/L ( 20 ). Kaur et al ( 18 ) observed that potassium supplementation decreased after 1 year of age (peak for 1 year; mean, 6.6 mEq/day/kg) and that at the age of 15 years, the dose of potassium decreased to 1.5 mEq/day/kg, consistent with our study. Therefore, the need for electrolyte supplementation may decrease as the patient gets older, even not in all cases.…”

Section: Discussionsupporting

confidence: 92%

“…The genetic characteristics of BS vary depending on ethnic differences and each study ( 11 , 18 , 23 ). In this study, the most common affected gene was CLCNKB as previously reported from United Kingdom and Japan ( 18 , 24 ). This is different from French or German study, gene as SLC12A1 or KCNJ1 , respectively ( 14 , 23 ).…”

Section: Discussionmentioning

confidence: 99%

“…Complications of BS include nephrocalcinosis, SNHL, and rarely developmental delay ( 18 , 20 ). Nephrocalcinosis has been reported to be associated with BS1 and BS2, but this study revealed that nephrocalcinosis can also be found in patients with BS3, consistent with Japan study, but higher ( 14 , 24 ).…”

Section: Discussionmentioning

confidence: 99%

“…Due to severe salt losing, patients with BS often present with failure to thrive; does it led to growth impairment when the patients age? Kidney function in BS is usually preserved, but patients with BS could develop chronic kidney disease (CKD) or kidney failure; the risk factors of progression to CKD have not been fully identified ( 14 , 15 , 18 , 19 ). How many BS patients of our cohorts would progress to CKD?…”

Section: Introductionmentioning

confidence: 99%

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Long-term outcome of Bartter syndrome in 54 patients: A multicenter study in Korea

et al. 2023

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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.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Long-term outcome of Bartter syndrome in 54 patients: A multicenter study in Korea

et al. 2023

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“…At diagnosis, BS patients are young (50% are diagnosed within the neonatal period) [ 27 ], have normal blood pressure and often present with growth retardation. This syndrome is associated with an increased antenatal and neonatal mortality [ 26 , 28 ].…”

Section: Introductionmentioning

confidence: 99%

Brain dysfunction in tubular and tubulointerstitial kidney diseases

Viggiano

Bruchfeld

Carriazo

et al. 2021

Nephrology Dialysis Transplantation

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Kidney function has two important elements: glomerular filtration and tubular function (secretion and reabsorption). A persistent decrease in glomerular filtration rate (GFR), with or without proteinuria, is diagnostic of chronic kidney disease (CKD). While glomerular injury or disease is a major cause of CKD and usually associated with proteinuria, predominant tubular injury, with or without tubulointerstitial disease, is typically non-proteinuric. CKD has been linked with cognitive impairment, but it is unclear how much this depends on a reduced GFR, altered tubular function or the presence of proteinuria. Since CKD is often accompanied by tubular and interstitial dysfunction, we explore here for the first time the potential role of the tubular and tubulointerstitial compartments in cognitive dysfunction. To help address this issue, we have selected a group of primary tubular diseases with preserved GFR, in which to review the evidence for any association with brain dysfunction. Cognition, mood, neurosensory, and motor disturbances are not well characterized in tubular diseases, possibly because they are subclinical and less prominent than other clinical manifestations. The available literature suggests that brain dysfunction in tubular and tubulointerstitial diseases is usually mild and is more often seen in disorders of water handling. Brain dysfunction may occur when severe electrolyte and water disorders in young children persist over a long period of time before the diagnosis is made. We have chosen as examples to highlight this topic, Bartter and Gitelman syndromes and nephrogenic diabetes insipidus. We discuss current published findings, some unanswered questions, and propose topics for future research.

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