リウマチ学: 現在の研究
オープンアクセス

概要

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

Parreira B, Couto AR, Menezes S, Machado V, Soares M, Pinheiro JP, Lima M and Bruges-Armas J

Gitelman syndrome (GS) is a rare autossomal recessive inherited tubulopathy, characterized by defective tubular reabsorption of magnesium and potassium, mostly caused by mutations in the SLC12A3 gene. The association of GS with chondrocalcinosis (CC) has been described in the literature as a typical example of hypomagnesemiainduced crystal deposition disease. We are presenting one case where the genetic cause for GS was identified in a proband with secondary early onset CC. A 60 years-old male patient with CC, hypomagnesemia and hypokalemia was identified in our hospital as a result of clinical and laboratory assessments. The clinical diagnosis of GS was performed and SLC12A3 gene was screened in the proband; variants detected were further searched in family members. The proband was homozygous for the S615L mutation; additionally, only one from the seven family members which were heterozygous presents CC. The presence of CC in two other individuals is most likely sporadic, in agreement with their advanced age.