[Thrombotic microangiopathy with anti-ADAMTS 13 antibodies revealing an acute Q fever]. / Micro-angiopathie thrombotique avec anticorps anti-ADAMTS 13 révélant une fièvre Q aiguë

INTRODUCTION: Q fever can commonly mimic systemic diseases, leading to several immunological manifestations. Thrombotic micro-angiopathies manifest as a spectrum of related disorders in the form of thrombocytopenic purpura and hemolytic uremic syndrome. CASE REPORT: We report a 77-year-old woman, who presented an acquired thrombotic microangiopathy with renal expression associated with the presence of anti-ADAMTS 13 antibodies, which occurred during an acute infection by Coxiella burnetii (acute Q fever). CONCLUSION: Auto-immune disorders are well-known in chronic or acute Q fever but to our knowledge, this is the first reported observation of thrombotic microangiopathy with anti-ADAMTS 13 antibodies.

De novo kidney graft tumors: results from a multicentric retrospective national study.

De novo tumors in renal allografts are rare and their prevalence is underestimated. We therefore analyzed renal cell carcinomas arising in renal allografts through a retrospective French renal transplant cohort. We performed a retrospective, multicentric survey by sending questionnaires to all French kidney transplantation centers. All graft tumors diagnosed after transplantation were considered as de novo tumors. Thirty-two centers participated in this study. Seventy-nine tumors were identified among 41 806 recipients (Incidence 0.19%). Patients were 54 men and 25 women with a mean age of 47 years old at the time of diagnosis. Mean tumor size was 27.8 mm. Seventy-four (93.6%), 53 (67%) and 44 tumors (55.6%) were organ confined (T1-2), low grade (G1-2) and papillary carcinomas, respectively. Four patients died of renal cell carcinomas (5%). The mean time lapse between transplantation and RCC diagnosis was 131.7 months. Thirty-five patients underwent conservative surgery by partial nephrectomy (n = 35, 44.3%) or radiofrequency (n = 5; 6.3%). The estimated 5 years cancer specific survival rate was 94%. Most of these tumors were small and incidental. Most tumors were papillary carcinoma, low stage and low grade carcinomas. Conservative treatment has been preferred each time it was feasible in order to avoid a return to dialysis.

[Adult celiac disease with thrombosis: a case series of seven patients. Role of thrombophilic factors]. / Maladie cœliaque de l'adulte et thromboses : à propos de sept cas. Rôle des facteurs thrombophiliques.

PURPOSE: Thrombotic events may occur in celiac disease. In this study, we analyzed clinical features and risk factors for thrombosis in seven patients who had celiac disease and thrombosis. METHODS: We retrospectively studied 87 patients with adult celiac disease and identified seven cases of thrombosis. We searched if risk factors for thrombosis were identified and tested retrospectively antiphospholipid antibodies on the serum. RESULTS: In our study, the global prevalence of thrombosis was 8 %, and 5.7 % for spontaneous thrombosis, with venous thrombosis (n=5) or arterial thrombosis (n=1) or both (n=2). The seven patients consisted in six women and one man with a mean age of 44.8 years at time of thrombosis. Thrombotic events occurred before the diagnosis of celiac disease in four cases. In three cases, venous thrombosis was in unusual sites: portal (n=2), splenic vein thrombosis (n=1). In six cases, we identified risk factors for thrombosis, which could be linked to celiac disease: hyperhomocysteinemia (n=1), protein C and S deficiency due to vitamin K deficiency (n=3) and antiphospholipid antibodies (n=2). CONCLUSION: Such risk factors for thrombosis should be identified in patients in adult celiac disease in order to correct them and add a thromboembolic prophylaxis.

[Unusual pulmonary presentation of lysinuric protein intolerance]. / Atteinte pulmonaire inhabituelle au cours d'une intolérance aux protéines avec lysinurie.

A 28-year-old girl suffering from lysinuric protein intolerance was referred on account of severe chronic respiratory failure. Since childhood she had failure to thrive with chronic hyperammonaemia and interstitial lung disease but normal respiratory function. At the age of 21, she experienced haemoptysis and worsening of the respiratory disease. CT scan of the chest showed bilateral, symmetrical ground glass opacities and subpleural cysts. At the age of 25, nocturnal non-invasive ventilation was initiated. Lysinuric protein intolerance is an exceptional genetic cause of interstitial lung disease.