title: Gitelman syndrome disclosed by calcium pyrophosphate deposition disease: early diagnosis by ultrasonographic study.
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.
authors.affiliation: Department of Medical and Biological Sciences, Rheumatology Clinic, Santa Maria della Misericordia University-Hospital, Udine. zabottialen@gmail.com.
authors.forename: A
authors.initials: A
authors.lastname: Zabotti
authors.forename: P
authors.initials: P
authors.lastname: Della Siega
authors.forename: L
authors.initials: L
authors.lastname: Picco
authors.forename: L
authors.initials: L
authors.lastname: Quartuccio
authors.forename: M
authors.initials: M
authors.lastname: Bassetti
authors.forename: S
authors.initials: S
authors.lastname: De Vita
mesh_terms: D000328:Adult; D015415:Biomarkers / Q000097:blood; D002118:Calcium / Q000097:blood / Q000652:urine; D002805:Chondrocalcinosis / Q000097:blood / Q000175:diagnosis* / Q000209:etiology*; D003937:Diagnosis, Differential; D042241:Early Diagnosis; D053579:Gitelman Syndrome / Q000097:blood / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007008:Hypokalemia / Q000097:blood; D008274:Magnesium / Q000097:blood; D008297:Male; D009154:Mutation; D018570:Risk Assessment; D012720:Severity of Illness Index; D064486:Solute Carrier Family 12, Member 3 / Q000097:blood; D014463:Ultrasonography
chemical_list: D015415:Biomarkers; C578874:SLC12A3 protein, human; D064486:Solute Carrier Family 12, Member 3; D008274:Magnesium; D002118:Calcium