Severe hypokalemia in an adolescent: unraveling the mystery of gitelman syndrome

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Severe Hypokalemia in An Adolescent: Unraveling the Mystery of Gitelman Syndrome

Ramchandra Babar, Nikhil Pawar.

Department of Paediatrics, MAM’s SSAM’s Sane Guruji Hospital, Hadapsar, Pune, Maharashtra, India.

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Why this article important?

A FTT adolescent female presented with severe hypokalemia, hypomagnesemia, impaired urinary calcium excretion, and metabolic alkalosis, along with supporting features such as normal kidney function, low vitamin D levels, normal ACTH levels, and electrolyte imbalances.Hypokalemia can be a complex condition to treat when it's associated with a genetic syndrome, such as Gitelman or Bartter syndrome. The presence of an underlying genetic defect or physiological imbalance often makes it difficult to completely cure hypokalemia. Hypokalemia associated with a syndrome can be considered a manageable condition, rather than one that can be completely cured. This case underscores the importance of considering Gitelman Syndrome in adolescent patients with electrolyte disturbances and characteristic clinical features.

Summary of article

This case study presents a 16-year-old female patient who exhibited severe pain, generalized weakness, and electrolyte disturbances, leading to a diagnosis of Gitelman Syndrome. Laboratory results revealed characteristic features of the disorder, including critically low potassium and low magnesium levels and metabolic alkalosis. Additionally, normal kidney function and low vitamin D levels supported the diagnosis. Notably, adrenal gland function remained intact despite electrolyte imbalances, as indicated by normal ACTH levels. A comprehensive evaluation of clinical presentation and electrolyte imbalances confirmed the diagnosis of Gitelman Syndrome. This case underscores the importance of considering Gitelman Syndrome in patients with electrolyte disturbances and characteristic clinical features.

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