title: Miscellaneous non-inflammatory musculoskeletal conditions. Bartter's and Gitelman's diseases.
abstract: Bartter's and Gitelman's syndromes are two different genetic renal diseases, but are both characterised by hypokalaemia and metabolic alkalosis. Bartter's syndrome is characterised by multiple gene mutations (Na-K-2Cl cotransporter; K(+) channels renal outer medullary potassium channel (ROMK); Cl channels, chloride channel Kb (ClCNKb); regulatory protein Barttin; and Ca(2+) -sensing receptor, CaSR) at the thick ascending limb of Henle's loop, while Gitelman's syndrome is caused by a mutation in the gene encoding the renal thiazide sensitive Na(+)-Cl(-) cotransporter, located in the apical membrane of the distal convoluted tubule. The co-existence of hypokalaemia with hypomagnesaemia and hypocalciuria represents the biochemical hallmark of Gitelman's syndrome that distinguishes it from Bartter's syndrome. Calcium pyrophosphate deposition (CPPD) including chondrocalcinosis has been frequently reported in association with Bartter's syndrome. Some authors postulate that these cases were probably due to Gitelman's syndrome and not due to Bartter's syndrome as all patients had hypomagnesaemia. This electrolyte disorder seems to induce CCP crystal deposition. To date, no cases of CPPD have been reported in patients who had Bartter's syndrome without hypomagnesaemia. CPPD may be found in other conditions associated with hypomagnesaemia, such as short bowel syndrome or tacrolimus therapy in liver transplantation patients. As acute CPP crystal arthropathy or pseudogout can be the onset presentation of Gitelman's syndrome, CPPD should be considered a major feature of this disease. Rheumatologists should be aware of the association between Gitelman's syndrome and CPPD, and should consider this metabolic disorder when CPPD occurs in younger patients.
authors.affiliation: Rheumatology Unit, Department of Clinical and Experimental Medicine, University of Padova, Via Giustiniani, 2, Padua, Italy.
authors.forename: Marta
authors.initials: M
authors.lastname: Favero
authors.forename: Lorenzo A
authors.initials: LA
authors.lastname: Calò
authors.forename: Franco
authors.initials: F
authors.lastname: Schiavon
authors.forename: Leonardo
authors.initials: L
authors.lastname: Punzi
mesh_terms: D001477:Bartter Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D002805:Chondrocalcinosis / Q000209:etiology / Q000628:therapy; D005260:Female; D053579:Gitelman Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008297:Male