Gitelman syndrome disclosed by calcium pyrophosphate deposition disease: early diagnosis by ultrasonographic study

Reumatismo. 2016 Jun 23;68(1):53-5. doi: 10.4081/reumatismo.2016.884.

Abstract

Gitelman's syndrome is a rare autosomal-recessive tubular disorder characterized by hypomagnesemia and hypocalciuria associated to hypokalemia. The clinical spectrum is wide and usually characterized by chronic fatigue, cramps, muscle weakness and paresthesiae. We describe a case of a 43 year-old male patient with early onset of knee arthritis and no other symptoms. Ultrasound revealed diffuse and confluent hyperechoic deposits in cartilage, fibrocartilage of the menisci and synovium and calcium pyrophosphate crystals were observed in the synovial fluid of the knee. The concomitant presence of hypomagnesemia, hypocalciuria and hypokalemia made clear the diagnosis of Gitelman's syndrome associated with chondrocalcinosis.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Biomarkers / blood
  • Calcium / blood
  • Calcium / urine
  • Chondrocalcinosis / blood
  • Chondrocalcinosis / diagnosis*
  • Chondrocalcinosis / etiology*
  • Diagnosis, Differential
  • Early Diagnosis
  • Gitelman Syndrome / blood
  • Gitelman Syndrome / complications*
  • Gitelman Syndrome / diagnosis*
  • Gitelman Syndrome / genetics
  • Humans
  • Hypokalemia / blood
  • Magnesium / blood
  • Male
  • Mutation
  • Risk Assessment
  • Severity of Illness Index
  • Solute Carrier Family 12, Member 3 / blood
  • Ultrasonography*

Substances

  • Biomarkers
  • SLC12A3 protein, human
  • Solute Carrier Family 12, Member 3
  • Magnesium
  • Calcium