The hypokalemia mystery: distinguishing Gitelman and Bartter syndromes from ‘pseudo-Bartter syndrome’

Jdiaa, Sara S.; Walsh, Stephen B.; Böckenhauer, Detlef; Fakhredine, Sara W; Koubar, Sahar H.

doi:10.1093/ndt/gfaa100

Cited by 6 publications

(4 citation statements)

References 9 publications

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“…Urine chloride is also useful in the differential diagnosis of metabolic alkalosis because a chloride deficit is crucial for the maintenance of metabolic alkalosis 6) . Our patients had urine chloride levels of >20 mmol/L, excluding the possibility of self-induced vomiting and chloride diarrhea 2) . Importantly, they had additional diagnostic features of GS: fractional excretion of chloride >0.5%, hypocalciuria defined as a urine calcium-to-creatinine ratio <0.2, and hypomagnesemia <1.70 mg/dL 1) .…”

Section: Discussionmentioning

confidence: 77%

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Pseudo-Gitelman Syndrome Presenting with Hypokalemic Metabolic Alkalosis and Hypocalciuria

Lee,

Kim

et al. 2023

Electrolyte Blood Press

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Pseudo-Bartter syndrome is a well-known differential diagnosis that needs to be excluded in cases of normotensive hypokalemic metabolic alkalosis. Pseudo-Bartter syndrome and pseudo-Gitelman syndrome are often collectively referred to as pseudo-Bartter/Gitelman syndrome; however, pseudo-Gitelman syndrome should be considered as a separate entity because Gitelman syndrome is characterized by hypocalciuria and hypomagnesemia, while Bartter syndrome is usually associated with hypercalciuria. Herein, we report the cases of two young adult female patients who presented with severe hypokalemic metabolic alkalosis, hypocalciuria, and hypomagnesemia. Diuretic or laxative abuse and self-induced vomiting were absent, and a chloride deficit and remarkable bicarbonaturia were observed. Initial sequencing studies for SLC12A3 , CLCKNB , and KCNJ10 revealed no mutations, and whole-exome sequencing revealed no pathogenic variants. The metabolic alkalosis was saline-responsive in one case, and steroid therapy was necessary in the other to relieve chronic tubulointerstitial nephritis, which was diagnosed with kidney biopsy. A new category of pseudo-Gitelman syndrome should be defined, and various etiologies should be investigated.

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Section: Discussionmentioning

confidence: 77%

“…Pseudo-BS is a well-known differential diagnosis from BS in cases of normotensive hypokalemic metabolic alkalosis. It is commonly associated with loop diuretic or laxative abuse and surreptitious vomiting 2) . Pseudo-BS and pseudo-GS are often collectively referred to as pseudo-BS/GS 3 4) .…”

Section: Introductionmentioning

confidence: 99%

Pseudo-Gitelman Syndrome Presenting with Hypokalemic Metabolic Alkalosis and Hypocalciuria

Lee,

Kim

et al. 2023

Electrolyte Blood Press

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“…Pseudo-Bartter syndrome (PBS) refers to renal or extrarenal salt loss, especially chloride loss, presenting with hypokalemic and hypochloremic metabolic alkalosis that may mimic genetic salt-losing tubulopathies, including Bartter syndrome (BS) and Gitelman syndrome (GS). This entity is particularly significant during the diagnostic process of BS and GS (1)(2)(3)(4)(5).…”

Section: Introductionmentioning

confidence: 99%

“…Diverse etiologies can cause PBS in both adults and children. In general, adult cases of diuretic abuse, laxative abuse, or self-induced vomiting account for most PBS cases (1,2,5). Severe hyperemesis during pregnancy or alcoholism can also develop in the adult with PBS (1).…”

Section: Introductionmentioning

confidence: 99%