Gitelman’s syndrome associated with chondrocalcinosis: a case report

Abstract

Gitelman's syndrome (GS) is a rare disease with autosomal recessive trait, characterized by hypokalemia, hypomagnesemia, metabolic alkalosis, hypocalciuria and hyperkinemic hyperaldosteronism. While muscle weakness, tetany, stomachache, nausea and fever are very common, it could sometimes be completely asymptomatic as is the case in our patient. It is generally benign, but some severe complications like growth retardation and, though rare, paralysis and cardiac arrest could also be seen. A 57-year-old male patient sent to our hospital for further examination because of hypokalemia was diagnosed with GS as a result of clinical and laboratory assessments. Potassium and magnesium replacement was started. We are presenting our case seeing that GS is not a syndrome to be overlooked as it bears a risk of severe complications, although it might be asymptomatic until advanced ages.

Functionomics of NCC mutations in Gitelman syndrome using a novel mammalian cell-based activity assay

“…muscle weakness, salt craving, thirst, nocturia, paresthesia, tetany, and abdominal pain (2,11). Although GS is often described as a mild disease, a patient's quality of life is significantly affected by this syndrome (2).…”

Bilateral hamstring origin calcification: rare presentation of Gitelman syndrome

“…Hence, the biochemical findings resemble those with thiazide diuretics, such as hypokalaemia, hypomagnesaemia, hypocalciuria, metabolic alkalosis and low normal blood pressure 2. The closest differential of this condition is Bartter's syndrome 3. Symptoms and severity can vary from patient to patient.…”

“…Common symptoms of GS include muscle spasms or cramps, muscle weakness and fatigue. Gastrointestinal symptoms like abdominal pain, nausea and vomiting can also be associated 3. Frequently, GS diagnosis is made inadvertently in adolescence or adults, excluding common causes of hypokalaemia.…”

“…Frequently, GS diagnosis is made inadvertently in adolescence or adults, excluding common causes of hypokalaemia. It is a benign condition and is treated with magnesium and potassium supplements and potassium-sparing diuretics 3…”

Gitelman’s Syndrome Associated with Chondrocalcinosis: A Case Study from the Azores Islands (Portugal)

“…CC is characterized by deposition of crystals of calcium pyrophosphate dihydrate (CPPD) in articular hyaline and fibro-cartilage [2]. Seventeen cases of GS associated with CC due to CCPD have been published in the literature, including 10 females and 7 males with a mean age of 51.4 ± 15.9 years [2,[5][6][7][8][9][10][11][12][13][14][15]. The role of hypomagnesemia in the development of CCPD is, however, not fully understood [16].…”