A 68-year-old female patient with no relevant past medical history presented with recurrent episodes of pain and inflammation in both knees, previously attributed to a degenerative process that improved with the use of a nonsteroidal anti-inflammatory drug.
During the last two years he had also presented mechanical pain in both wrists and cervical spines.
She reported no episodes of diarrhea or vomiting, did not use diuretics or any other type of drugs.
Examination showed a patient with good general condition, normohydrated, and blood pressure of 120 mmHg.
The rest of the exploration highlighted pain and the limitation to flexion-extension of the right knee with positive meniscal maneuvers, without signs of joint effusion.
The hands showed degenerative signs in distal interphalangeal joints suggestive of Heberden nodules.
Blood count and serum creatinine were normal; biochemical analyses showed the following results: urea, 37 mg/dl; creatinine clearance (0.1 mg/dl), plasmatic calcium ( mEq/ml), magnesium phosphate (0.140 mL/dl), alkaline phosphatase (3.56).
In 24-hour urine: negative proteinuria; calciuria, 69.56 mg (100-250); urinalysis, 588.30 mg; Mg, 1.31 mg/dL-135.9 mg/dL); morning phosphate, first urine.
Acute phase reactants, rheumatoid factor, anticitrullinated antibody and antinuclear antibodies (ANA, anti-ENA) were normal or negative.
The radiological study showed calcifications of the menisci of both knees with added degenerative signs, pituitary symphysis in both metaphases of the meniscus and hyphalangeal cartilage.
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Magnetic resonance imaging (MRI) of the right knee showed severe degenerative signs of femoral-rotulian, internal and external femoral-tibial arthrosis, with degenerative rupture of both menisci.
Molecular genetic study was requested by PCR amplification and sequencing of the SCL112A3 gene, detecting homozygosis of the c2576T>C(p.L859P) mutation in the Gitelman exon.
The treatment consisted of oral magnesium supplements at variable doses according to analytical follow-up results, and 0.5 mg colchicine per day to avoid pseudogout episodes that the patient had suffered.
