Association of Adult-Onset Bartter Syndrome With Undifferentiated Connective Tissue Disorder

Saleem, Nida; Nasir, Humaira; Hassan, Danyal; Manzoor, Momena

doi:10.7759/cureus.17140

Cited by 3 publications

(2 citation statements)

References 18 publications

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“…Neonates present with symptoms such as polyuria, polydipsia, dehydration, constipation, sensorineural deafness, eyes that are big and protrude with growth delays, and failure to thrive (5). This is a little different from the way adults usually present since they tend to have more fatigue and weakness with the common polyuria and polydipsia due to excessive salt loss (11). The current patient presented with the expected polyuria, polydipsia, and weakness but also had nocturia and muscle spasm.…”

Section: Discussionmentioning

confidence: 59%

Adult-Onset Bartter Syndrome: A Case Report

Soran Mohammed Gharib,

Swara Ali Mawlud,

Shaho F. Ahmed

et al. 2023

Barw Medical Journal

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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.

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Section: Discussionmentioning

confidence: 59%

Adult-Onset Bartter Syndrome: A Case Report

Soran Mohammed Gharib,

Swara Ali Mawlud,

Shaho F. Ahmed

et al. 2023

Barw Medical Journal

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“…In addition to the above-mentioned symptoms, neonates also exhibit signs like sensorineural deafness, big eyes, protruding ears, strabismus, and a drooping mouth [ 2 ]. On the other hand, adults frequently present with weakness, fatigue, polyuria, polydipsia, and a salt craving [ 3 ].…”

Section: Discussionmentioning

confidence: 99%

A Rare Presentation of Adult-Onset Bartter Syndrome: A Case Report

Alla¹,

Kesineni²,

Vempati³

et al. 2023

Cureus

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Bartter syndrome is a rare, salt-wasting tubulopathy with impaired ion reabsorption in the ascending limb of the loop of Henle, which results in hypokalemia, hypochloremia, and hypercalciuria. It usually presents in neonates, with vomiting, dehydration, and failure to thrive. It results from mutations in several genes, including KCNJ1, CLCNKB, CLCNKA, BSND, and ROMK, which encode ion transporters. We report a rare presentation of adult-onset Bartter syndrome. In this case, a 27-year-old man presented to the hospital with upper and lower limb weakness. Bartter syndrome was suspected based on serum electrolytes assessment and arterial blood gas analysis. The patient was initiated on potassium chloride (KCL) infusion and potassium chloride syrup to correct hypokalemia.

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Acquired autoimmune Bartter syndrome in a patient with primary hypothyroidism

et al. 2021

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We describe an unusual clinical presentation of autoimmune Bartter syndrome in a patient with primary hypothyroidism. A 65-year-old female patient was admitted with neuromuscular weakness associated with hypokalemia and metabolic alkalosis. She had a suboptimal response to potassium supplementation and potassium-sparing diuretic resulting in re-hospitalization with the same symptoms. A detailed serum and urinary biochemistry analysis in the absence of other causes of potassium wasting helped diagnose Bartter syndrome, a rare entity in adults. An autoimmune profile showed anti-Scl-70 antibody to be positive, although she did not develop other systemic features of the disease. Our patient responded to a steroid-based regimen potassium supplement, Indomethacin, and aldosterone antagonist with remarkable resolution of symptoms and correction of electrolyte derangement. We reviewed the literature to search for similar cases and included twenty-seven fulllength publications on acquired and autoimmune causes of Bartter syndrome. Our case highlights the fact that hypokalemia with metabolic alkalosis in an adult patient should prompt clinicians to evaluate for common and uncommon conditions. While assessing for abnormal conditions, acquired Bartter syndrome should be considered if a patient has an underlying autoimmune, endocrine, or connective tissue disease.

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Association of Adult-Onset Bartter Syndrome With Undifferentiated Connective Tissue Disorder

Cited by 3 publications

References 18 publications

Adult-Onset Bartter Syndrome: A Case Report

Adult-Onset Bartter Syndrome: A Case Report

A Rare Presentation of Adult-Onset Bartter Syndrome: A Case Report

Acquired autoimmune Bartter syndrome in a patient with primary hypothyroidism

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