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Hypokalemia is a relatively common condition whose cause can usually be diagnosed relatively easily based on the history. In rare cases, it becomes difficult to determine the cause especially in genetic, salt-losing tubulopathies which can make it refractory to treatment. Chronic severe hypokalemia can have debilitating effects on the quality of life of the patient and can sometimes present with potentially life-threatening complications. We present a case of a 46 year old African male who had a long standing history of hypokalemia and had presented with chronic muscle weakness, nausea and vomiting and a heart block. The diagnosis of Gitelman syndrome was made after extensive investigations and genetic testing
A 46 year old male presented with a three year history of recurrent hypokalemia. He had been seen in several medical facilities and treated symptomatically. The cause of the recurrent hypokalemia was unknown. He had a ten year history of recurrent symptomatic palpitations and also reported having had a syncopal episode during a basketball game. Three years prior he had presented with profound weakness and dizziness and was found to have Mobitz type 2 block necessitating the insertion of a DDDR pacemaker. A coronary angiogram done was normal. His serum potassium at that time was normal as well. He also had recurrent nausea and vomiting with persistent weakness which prevented him from working. An upper GI endoscopy done twice was normal. He also had a CT scan of the abdomen which was normal.
The patient was referred for further evaluation and management. He was noted to have a hypokalemia, hypomagnesemia, metabolic alkalosis and elevated renin levels. He had a high urine potassium, urine magnesium and low urine calcium excretion. A diagnosis of Gitelman syndrome was suspected and the patient was sent for genetic testing.
Genetic testing confirmed the diagnosis of Gitelman syndrome. The test revealed a heterozygous missense variation in exon 5 of the SLC12A3 (chr16:g.56870218G>C; Depth 236x) that results in the amino acid substitution of Leucine for Valine at codon 242.
The patient was managed with potassium and magnesium supplementation, aldosterone receptor antagonist and a high salt diet. His symptoms resolved and he was able to return back to work and is on close follow up at the clinic.
This case highlights the diagnostic challenges associated with Gitelman Syndrome and the importance of maintaining a high index of suspicion in patients presenting with persistent unexplained electrolyte disturbances. The patient's severe hypokalemia was attributed to vomiting but later was found to be a symptom of low potassium. The resolution of these symptoms following appropriate management underscores the importance of clinician education on Gitelman Syndrome as an important differential.
Early diagnosis and appropriate management of Gitelman Syndrome are crucial in reducing morbidity and improving the quality of life for affected patients. Clinicians should be vigilant in identifying the signs and symptoms of this rare disorder and consider genetic testing when indicated. This case highlights the need for additional research to better understand the pathophysiology of gastrointestinal symptoms in Gitelman Syndrome and to develop more targeted and effective treatment strategies.
By raising awareness of Gitelman Syndrome and its potential manifestations, we hope to contribute to improved patient care and outcomes for those affected by this rare but potentially life-threatening condition