[Aluminic intoxication in chronic hemodialysis. A diagnosis rarely evoked nowadays. Clinical case and review of the literature]

International audienceAluminum intoxication in chronic hemodialysis patients has virtually vanished over the last decade. Therefore, the diagnosis is rarely advocated at present. Aluminum intoxication in dialysis patients associates to different degrees with dialysis encephalopathy, bone disorders and microcytic anemia. We report here the observation of a patient receiving intermittent hemodialysis therapy who presented with acute encephalopathy. It turned out to be caused by aluminum intoxication secondary to a defect in dialysis water treatment. Whatever the therapeutic approach, the prognosis of this dramatic complication in hemodialysis patients remains poor. In severe cases, only renal transplantation can be able to improve clinical outcome. Major sources of aluminum are tap water used for dialysis together with a defective water treatment system, and to a minor extent oral aluminum-containing phosphate binders and antacids. In the absence of a bone biopsy, the diagnosis can be made by measuring serum aluminum or better after a desferrioxamine test. Prevention of aluminum overload is of utmost importance. It is the responsibility of dialysis centers to provide aluminum-free water and dialysis fluid. In case of proven aluminum intoxication, the K/DOQI guidelines indicated how to best treat hemodialysis patients, based on long-term desferrioxamine infusions during the hemodialysis session. It is recommended to implement a stepwise increasing desferrioxamine dosage to prevent an acute decompensation with irreversible neurological lesions

Hypercalcemia and inactive mutation of CYP24A1. Case-study and literature review

We present the case of a family whose members have high levels of serum calcium (hypercalcaemia) by loss of function of the enzyme vitamin D 24-hydroxylase due to bi-allelic mutations in the CYP24A1 gene: c.443 T>C (p.Leu148Pro) and c.1187 G>A (p.Arg396Gln). 24-VITD hydroxylase is a key player in regulating the circulating calcitriol, its tissue concentration and its biological effects. Transmission is recessive. The estimated prevalence of stones in the affected subjects is estimated between 10 and 15%. The loss of peripheral catabolism of vitamin D metabolites in patients with an inactivating mutation of CYP24A1 is responsible for persistent high levels of 1,25-dihydroxyvitamin D especially after sun exposure and a charge of native vitamin D. Although there are currently no recommendations (French review) on this subject, this disease should be suspected in association with recurrent calcium stones with nephrocalcinosis, and a calcitriol-dependent hypercalcaemia with adapted low parathyroid hormone levels. Resistance to corticosteroid therapy distinguishes it from other calcitriol-dependent hypercalcemia. A ratio of 25-hydroxyvitamin D/24.25 hydroxyvitamin D>50, is in favor of hypercalcemia with vitamin D deficiency 24-hydroxylase. Genetic analysis of CYP24A1 should be performed at the second step. The current therapeutic management includes the restriction native vitamin D supplementation and the limitation of sun exposure. Biological monitoring will be based on serum calcium control and modulation of parathyroid hormone concentrations

Clinicopathologic characteristics, treatment, and outcomes of tubulointerstitial nephritis and uveitis syndrome in adults: A national retrospective strobe-compliant study

International audienceTubulointerstitial nephritis and uveitis (TINU) syndrome is a rare disease, defined by the association of idiopathic acute TINU. The aim of our work was to determine the characteristics of adult TINU syndrome in France, and to assess factors (including treatment) influencing medium-term prognosis.We conducted a nationwide study including 20 French hospitals. Clinical, laboratory, and renal histopathologic data of 41 biopsy-proven TINU syndromes were retrospectively collected. The patients were diagnosed between January 1, 1999 and December 1, 2015.Twenty-five females and 16 males were included (F/M ratio: 1.6:1). The median age at disease onset was 46.8 years (range 16.8-77.4) with a median serum creatinine level at 207 μmol/L (range 100-1687) and a median estimated glomerular filtration rate (eGFR) at 27 mL/min per 1.73 m (range 2-73). Twenty-nine patients (71%) had a bilateral anterior uveitis and 24 (59%) had deterioration in general health at presentation. Moderate proteinuria was found in 32 patients (78%) (median proteinuria 0.52 g/24 h; range 0.10-2.10), aseptic leukocyturia in 25/36 patients (70%). The evaluation of renal biopsies revealed 41 patients (100%) with an acute tubulointerstitial nephritis, 19/39 patients (49%) with light to moderate fibrosis and 5 patients (12%) with an acute tubular necrosis. Thirty-six patients (88%) were treated with oral corticosteroids. After 1 year of follow-up, the median eGFR was 76 mL/min per 1.73 m (range 17-119) and 32% of the patients suffered from moderate to severe chronic kidney disease. Serum creatinine (P < 0.001, r = -0.54), serum bicarbonate and phosphate levels (respectively, P = 0.01, r = 0.53; and P = 0.04, r = 0.46), and age (P = 0.03, r = -0.37) at the 1st symptoms were associated with eGFR after 1 year. During the 1st year 40% of patients had uveitis relapses. The use of oral corticosteroids was not associated with a better kidney function but was associated with fewer uveitis relapses (P = 0.44 and 0.02, respectively).In our study, 32% of patients were suffering from moderate to severe chronic kidney disease after 1 year of follow-up, and 40% had uveitis relapses during this follow-up. This work also suggests that oral corticosteroids are effective for the treatment of TINU syndrome's uveitis

The long-term effect of a lung-ultrasound intervention on the risk for death, heart failure and myocardial infarction in dialysis patients

Extravascular lung water, a measure of fluid overload, is easily detected by lung ultrasound (US), a fast, easy-to-learn technique validated in dialysis patients [1]. Lung US is used for treatment monitoring in patients with decompensated heart failure [2, 3], and it is a powerful predictor of death and cardiovascular events in the dialysis population [4]. In the ‘LUng water by Ultra-Sound Guided Treatment (LUST) to Prevent Death and Cardiovascular Complications in High-Risk ESRD Patients with Cardiomyopathy’ trial (NCT02310061), a treatment strategy guided by lung US was not more effective than a usual care strategy in improving the primary endpoint of the study (a combination of death, heart failure and myocardial infarction) [5]. Since robust, long-term legacy effects of interventions targeting fluid volume status on major clinical outcomes in haemodialysis patients may emerge after the end of trials, we designed a post-trial, observational analysis extended up to 53 months (4.4 years). Since analyses by sex are important in clinical trials, as in the corresponding source trial, also in this study we performed effect modification analyses by sex and other major risk factors as a secondary endpoint

Value of biomarkers for predicting immunoglobulin A vasculitis nephritis outcome in an adult prospective cohort

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