Gitelman syndrome presenting with hypomagnesemia, hypokalemia and hypocalciuria - A case report

Uzunlulu, Mehmet; Dumanoglu, Betul

doi:10.5222/mmj.2019.39000

Cited by 2 publications

(3 citation statements)

References 15 publications

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“…GS are characterized by hypokalemia, hypomagnesemia, metabolic alkalosis, hypocalciuria, secondary renin-angiotensin-aldosterone (RAAS) activation, normal or low blood pressure [ 9 ]. GS patients may manifest fatigue, salt craving, polydipsia, polyuria, and paroxysmal tetany triggered by hypomagnesemia [ 10 ]. It is suggested GS patient intake potassium and magnesium supplements and sodium chloride-containing food for life [ 11 ], as GS is caused by the deficiency of sodium-chloride co-transporter.…”

Section: Discussionmentioning

confidence: 99%

A case of Gitelman syndrome with membranous nephropathy

Guo

Sun

et al. 2022

BMC Nephrol

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Background Gitelman syndrome (GS) is a rare autosomal recessive inherited salt-losing tubulopathy (SLT). Here, we report, for the first time, a case of GS overlapping nephrotic syndrome (NS) related to PLA2R-associated membranous nephropathy (MN). Case presentation We described a male patient had a 4-year history of recurrent fatigue. Serum biochemistry revealed hypokalemia with renal potassium wasting, hypomagnesemia, metabolic alkalosis, hyperreninemia, hypocalciuria, as well as nephrotic-range proteinuria, hypoalbuminemia, and elevated serum anti-phospholipase A2 receptor (PLA2R) antibody. Gene sequencing identified compound heterozygous mutations in SLC12A3 [c.536T > A(p.V179D) and c.1456G > A(p.D486N)]. The unusual association of SLTs and nephrotic-range glomerular proteinuria prompted us to perform a renal biopsy. Renal biopsy showed idiopathic MN. Due to the potential to activate the sodium-chloride co-transporter (NCC) and cause hyperkalemia, tacrolimus was selected to treat NS. Following treatment with potassium chloride, magnesium oxide, low-dose glucocorticoid combined with tacrolimus, the fatigue significantly improved, and concurrently hypokalemia, hypomagnesemia were corrected and NS was remitted. Conclusions Renal biopsy should be warranted for GS patients with moderate to nephrotic-range proteinuria. Tacrolimus was preferred to the management of GS patients with NS.

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Section: Discussionmentioning

confidence: 99%

A case of Gitelman syndrome with membranous nephropathy

Guo

Sun

et al. 2022

BMC Nephrol

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“…Among metabolic alkalosis, GS is found as an important cause of tetany. 4, [7][8][9][10][11][12][13] It is associated with metabolic alkalosis, hypokalemia, hypomagnesemia, and hypocalciuria. [7][8][9] Total serum calcium is usually normal.…”

Section: Different Etiologiesmentioning

confidence: 99%

“…4, [7][8][9][10][11][12][13] It is associated with metabolic alkalosis, hypokalemia, hypomagnesemia, and hypocalciuria. [7][8][9] Total serum calcium is usually normal. 10 However, hypocalcemic tetany is also reported in GS.…”

Section: Different Etiologiesmentioning

confidence: 99%

Spectrum of Disorders associated with Tetany

Santra¹

2023

JAPI

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Introduction: Awareness regarding the etiological spectrum of tetany is poor among physicians. Because of poor awareness, tetany is underdiagnosed and undertreated. Materials and methods: Databases like PubMed, PubMed Central, Scopus, and Google Scholar are searched to identify peer-reviewed articles on tetany. Case reports, case series, and original articles are analyzed to identify different causes of tetany prevalent in the community. Different causes found are analyzed and tabulated, and finally, a flowchart is made on the approach for diagnosing different underlying pathologies of tetany. Results: Both metabolic and respiratory alkalosis are important causes of tetany because of reduced ionized calcium levels. Gitelman syndrome (GS) is associated with metabolic alkalosis, hypokalemia, hypomagnesemia and hypocalciuria, and frequently causes normocalcemic tetany. Recurrent vomiting and primary hyperaldosteronism also cause tetany due to metabolic alkalosis. Hyperventilation syndrome (HVS) leads to respiratory alkalosis and is a frequent cause of tetany. Hyperventilation-induced tetany is also seen after spinal anesthesia and in respiratory disorders like asthma. Vitamin D deficiency (VDD), primary hypoparathyroidism, and pseudohypoparathyroidism (PHP) (1a, 1b, and 2) cause hypocalcemic tetany. Hypomagnesemia causes hypocalcemia and tetany due to peripheral parathyroid hormone resistance and impaired parathyroid hormone secretion. Drugs causing tetany include bisphosphonates, denosumab, cisplatin, antiepileptics, aminoglycosides, diuretics, etc. Tetany is also seen in acute pancreatitis, dengue, falciparum malaria, hyperemesis gravidarum, tumor lysis syndrome (TLS), massive blood transfusion, etc. Conclusion: The spectrum of disorders associated with tetany is diverse. Awareness of different causes will help early and proper diagnosis of tetany.

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Gitelman syndrome presenting with hypomagnesemia, hypokalemia and hypocalciuria - A case report

Cited by 2 publications

References 15 publications

A case of Gitelman syndrome with membranous nephropathy

A case of Gitelman syndrome with membranous nephropathy

Spectrum of Disorders associated with Tetany

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