Calcium pyrophosphate crystal deposition in a cohort of 57 patients with Gitelman syndrome

Abstract

Objective Gitelman syndrome (GS) is the most frequent salt-wasting genetic tubulopathy and a source of hypokalaemia and hypomagnesemia. Chondrocalcinosis (CC) is a frequent feature of GS. The aim of our study was to determine the prevalence, distribution patterns, clinical phenotypes and risk factors of CC in GS. Methods This prospective study of a cohort of 57 patients with GS included a systematic screening for CC by peripheral joint radiography, cervical spine computerized tomography (CT) and joint ultrasonography. The prevalence of cervical C1-C2 CC by CT was compared between 33 GS patients and sex- and age-matched controls. Clinical and biochemical features were analysed to identify factors associated with CC. Results Mean age of patients was 46.5 ± 12.4 years, 66.7% were women, and 93.0% carried SLC12A3 mutations. Mean serum magnesium level was 0.60 ± 0.30 mmol/l. CC was observed in 79% of patients, with the highest prevalence at the cervical spine (81.8%) followed by the knee (52.6%), wrist (50.9%), ankle (38.6%), temporomandibular joint (36.4%), shoulder (33.3%), hip (22.8%), elbow (14.0%) and sclero-choroid (12.1%). Prevalence of CC at the C1-C2 level was higher in the GS cohort than control group (72.7% vs 9.1%) (adjusted odds ratio 21.0, 95% CI 2.8–156.1, p= 0.003). Independent factors associated with CC were low serum magnesium level and age. Conclusion GS was associated with widespread CC, favoured by aging and hypomagnesemia. The C1-C2 level was the most affected site. Follow-up of this unique cohort will help understanding the clinical consequences of CC, especially the precise characterization of pyrophosphate arthropathy.

Calcium Pyrophosphate and Basic Calcium Phosphate Deposition Diseases: The Year in Review 2022

“…Next, in order of decreasing frequency, were the wrist, at 50.9%, the ankle, at 38.6%, the temporomandibular (TM) joint, at 36.4%, the shoulder, at 33.3%, the hip, at 22.8%, the elbow, at 14.0% and the sclera/choroid, at 12.1%. Both age and hypomagnesaemia were independent factors found to be associated with CC in GS [12]. This is a thorough analysis of CC in GS illustrating preferential involvement at the cervical spine and knees.…”

“…There is a wellrecognised association between GS and CC and various small studies and case series have depicted a propensity of CC to manifest at the knee, symphysis pubis and shoulder [11]. In this cross-sectional prospective study, Chotard et al sought to determine the prevalence, clinical phenotypes, distribution patterns and risk factors for CC in individuals with GS [12]. A cohort of 57 patients with GS were identified and they underwent a systematic screening for CC.…”

Crowned dens syndrome detected by positron emission tomography-computed tomography (PET-CT): a case description

“…A notable aspect of this article is that the patient underwent a PET-CT scan to confirm the site of infection, and the PET-CT revealed a hypermetabolic area at the odontoid process level. Previous studies have typically reported CT imaging alone for diagnosis ( 9 , 22 , 23 ). Only Monet has reported PET-CT images of CDS accompanied by polymyalgia rheumatica ( 18 ).…”

Diagnosis and Treatment of Calcium Pyrophosphate Deposition (CPPD) Disease: A Review

“…In a recent study by Chotard et al, 79% of patients with Gitelman’s Syndrome had evidence of chondrocalcinosis at least at one site, with the highest prevalence at the cervical spine (81.8%) followed by the knee (52.6%) and the wrist (50.9%). 30 In a patient with newly diagnosed acute CPP arthritis, particularly in those of younger age, evaluation should include measurement of serum calcium, ferritin, magnesium, phosphorus, alkaline phosphatase, and thyroid-stimulating hormone.…”