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Master Thesis

Maladie à dépôts de pyrophosphate de calcium : étude d’une cohorte de 57 patients avec syndrome de Gitelman

Abstract : Gitelman syndrome (GS) is a rare genetic tubulopathy caused by an inactivating mutation of SLC12A3 gene, encoding a thiazide sensitive Na/Cl transporter in the distal convoluted tubule of the kidney. Biological features associate hypokalemia, metabolic alkalosis and hypomagnesemia. Clinically, the diagnosis is most often made in young adults with non-specific symptoms or fortuitously with biological hypokalemia. There are several rheumatological manifestations of GS such as cramps, flaccid paralysis of severe hypokalemia and calcium pyrophosphate (CPP) deposition disease which has been described in isolated cases. However, its prevalence and clinical phenotype remain unknown in the GS. The aims of this study were to assess the clinical, biological and radiological characteristics of CPP deposition disease in a cohort of 57 patients with genetic-proven GS. CPP deposits occurred in nearly 80% of patients (mean age 46.5 ± 12.4 years). 42% experienced inflammatory arthralgia. Deposits were evidenced by frequency in knees, wrists and cervical spine with frequent C1-C2 localization. Joint involvement was most often polyarticular affecting at least 3 sites in 49% of cases. Patients with more than 3 joints with CPP deposits were significantly older and more often symptomatic than patients with less than 3 joints affected. Significantly and after age adjustment, magnesemia was inversely correlated with the number of joints with CPP deposits. CPP deposition disease is a frequent complication of GS, favored by hypomagnesemia and responsible for joint pain and inflammation. The prospective follow-up of this cohort will permit to understand how GS favors CPP crystal deposition.
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Master Thesis
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https://dumas.ccsd.cnrs.fr/dumas-03129869
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Submitted on : Wednesday, February 3, 2021 - 10:24:41 AM
Last modification on : Wednesday, June 9, 2021 - 3:22:29 AM

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Émilie Chotard. Maladie à dépôts de pyrophosphate de calcium : étude d’une cohorte de 57 patients avec syndrome de Gitelman. Médecine humaine et pathologie. 2019. ⟨dumas-03129869⟩

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