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A 72-year-old woman, with anti-myeloperoxidase antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV), presented with two episodes of spinal pachymeningitis (at two different levels 9 years apart, cervical in 2011 and dorso-lumbar in 2020) associated with aortitis and only demonstrated by F-18 fluorodeoxyglucose positron emission tomography/computed tomography (Involvement of large vessels such as the aorta is rarely associated with anti-myeloperoxidase antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV), but has been described in a few cases. Possible aortic involvement should always be kept in mind while managing a patient with AAV.Pachymeningitis is rarely associated with AAV, but in case of unexplained and unspecific neurological symptoms in patients with AAV, such involvement should be considered.

Takayasu arteritis (TAK) is a large vessel vasculitis affecting young women of childbearing age. The outcome of pregnancies in TAK patients, factors associated with maternal and foetal complications and adverse outcomes were analysed.All pregnancies in women with a TAK diagnosis were retrospectively included from 20 French hospitals providing care for TAK, until August 2015.The study consisted of 43 pregnancies in 33 women, including 29 with a pre-existing TAK diagnosis and 4 diagnosed during pregnancy. Complications were observed in 20 pregnancies (47%), including 35% with arterial hypertension (n = 15), 9% with pre-eclampsia (n = 4), 2% with HELLP syndrome (n = 1) and 14% with intrauterine growth restriction (IUGR, n = 6, leading in one case to a medically indicated termination of pregnancy). There were 42 live births (98%) at a median term of 38 [27-42] weeks gestation including 9 before 37 weeks (21%). The median birth weight was 2940 [610-4310] grams. Five children (12%) required transfer to a neonatal intensive care unit. One premature boy (27 weeks gestation) died after 2 days. Treatment during pregnancy included steroids (n = 25/43; 58%), azathioprine (n = 9/43; 21%) and infliximab (n = 1/43; 2%). The risk of developing arterial hypertension during pregnancy was associated with previous chronic arterial hypertension and with an infra-diaphragmatic vasculitis injury (P = 0.01 and P = 0.04, respectively). No correlation was reported between TAK activity and any of the obstetrical complications described in the study.This study showed a high rate of adverse obstetrical complications without significant impact on live birth rates. Pregnancy did not appear to influence TAK disease activity. Key Points • We observed a high rate of adverse obstetrical complications in women with Takayasu arteritis; however, the rate of live births was high. Pregnancy did not appear to influence TA disease activity.

Background: Behcet’s disease (BD) is a multisystemic, chronic inflammatory disorder with a broad range of manifestations including within the cardiovascular system. Cardiac involvement like intracardiac thrombus (ICT) and valvular involvement in BD are rarely seen entities and often associated with poor prognosis. Case Presentation: We present the case of a young patient with vascular-Behcet diagnosed by the presence of intracardiac thrombus in the right ventricle, unresponsive to medical treatment. Even though the intracardiac lesion was successfully treated by surgical excision, he presented a severe tricuspid dysfunction some years later due to the extension of fibrosis with no surgical therapeutic option. Conclusion: Intracardiac thrombosis is a rare but early manifestation of Behcet’s disease, which is difficult to diagnose and has a poor prognosis.

ObjectiveThis study aimed at evaluating the impact of COVID-19 on emergency department (ED) visits in a tertiary cancer centre and providing information on the features of the unplanned events during the first wave of COVID-19 pandemic.MethodsThis retrospective observational study based on data from ED reports was divided into three periods of 2 months each around the first lockdown announcement of 17 March 2020: pre-lockdown, lockdown and post-lockdown.ResultsA total of 903 ED visits were included in the analyses. The mean (±SD) daily number of ED visits did not change during the lockdown period (14.6±5.5) when compared with the periods before (13.6±4.5) and after lockdown (13.7±4.4) (p=0.78). The proportion of ED visits for fever and respiratory disorders increased significantly to 29.5% and 28.5%, respectively (pConclusionOur study shows that ED visits during the first wave of the COVID-19 pandemic remained stable for our patients regardless of the symptom’s severity. The fear of an in-hospital viral contamination appears weaker than the need for pain management or for the treatment of cancer-related complications. This study highlights the positive impact of cancer ED in the first-line treatment and supportive care of patients with cancer.

In case of AAV with kidney involvement, physicians should explore anti‐GBM antibodies and be aware of the possible sequential development of AAV, especially with MPO‐ANCA, and anti‐GBM glomerulonephritis. This sequential disease history is associated with a poor renal outcome, highlighting the need for urgent diagnosis and management.

The surgical lung biopsy (SLB) is the recommended sampling technique when the pathological analysis of the lung is required in the work-up of an interstitial lung disease (ILD) but trans-bronchial lung cryobiopsy (TBLC) is increasingly recognized as an alternative approach. As TBLCs have lower mortality and morbidity risks than SLB, this study aimed to investigate the safety of TBLCs in patients at higher risk of complications and for whom SLB was not considered as an alternative., info:eu-repo/semantics/published

Hydroxychloroquine has been used worldwide as a first-line treatment for patients hospitalized with COVID-19. Little is known about COVID-19 and its effects on patients with congenital red blood cell disorders. We report a case of haemolytic anaemia in a 32-year-old patient and a fortuitous highlighting of G6PD deficiency. We reviewed the literature to assess the risk of hydroxychloroquine use in this context. LEARNING POINTS: A rapid drop in haemoglobin in COVID-19 patients should alert physicians to test for haemolytic anaemia and enzymopathies. Our review of the literature shows that use of hydroxychloroquine is safe in G6PD-deficient patients.

info:eu-repo/semantics/published

SCOPUS: le.j, info:eu-repo/semantics/published

We describe a 66-year old patient with a recurrent ulcer on her right ankle. Biopsy revealed medium-vessel vasculitis consistent with cutaneous polyarteritis nodosa. There were no signs or symptoms suggestive of systemic vasculitis, but a 18FDG-PET scan showed areas of increased uptake around the large arteries and the pelvic and shoulder girdles. These findings suggested polymyalgia rheumatica in the setting of large-vessel vasculitis. This case thus supports the statement from the Chapel-Hill consensus conference that classification of systemic vasculitis by vessel size is based on the vessels predominantly involved, but vessels of other sizes may also be affected. LEARNING POINTS The classification of vasculitis needs further refinement as some patients may not easily fit into just one category. Conditions that include aspects of different vasculitis also exist and cannot be classified using the Chapel Hill nomenclature. The role of PET scan in the assessment of PAN needs further evaluation. Keywords: Polyarteritis nodosa, polymyalgia rheumatica, giant cell arteritis (GCA), PET scan CASE DESCRIPTION A 66-year old patient presented to her dermatologist in May 2018 with a recurrent ulcer on the right ankle (Fig. 1). In September 2016, the patient had first noticed swelling of the right ankle; a few months later a purplish colouration had appeared and, in October 2017, the lesion began to ulcerate and become painful. The patient complained of pain over the right malleolus and also slight dyspnoea. Clinical examination showed no abnormality other than the ulcer. Open in a separate window Figure 1 The patient’s right ankle, showing the recurrent ulcer.

Background Treatment options for chronic SIADH include water restriction (WR) and urea. The usefulness of urine osmolality to guide the choice of the treatment option is not clearly defined. We hypothesized that urine osmolality can indicate whether treatment with mild water restriction alone could be successful. Methods Retrospective Review of clinical and biochemical (blood and urine) data of patients with chronic SIADH treated for at least one year with mild WR (1.5–2 l/day) either with or without urea. Results Twenty nine patients were included. Nine patients were treated by mild WR. Mean serum sodium (SNa) and mean Uosm were 129 ± 2 mEq/l and 274 ± 78 mOsm/kgH2O respectively before WR, and increased to 138.5 ± 3 mEq/l and 505 ± 87 mOsm/kgH 2 O ( P 2 O respectively and increased to 136.5 ± 1 mEq/l and 490 ± 151 mOsm/kgH 2 O ( P 2 O and increased to 136.5 ± 2 mEq/l and 698 ± 157 mOsm/kgH 2 O ( P Conclusions About 30% of patients could be treated by moderate WR alone. All these patients presented an initial urine osmolality lower than 400 mOsm/kgH 2 O.

Hypercalcemia is a common pathological condition in clinical practice. The two most common causes are primary hyperparathyroidism and cancer. SIADH is often encountered in cancer cases and is the most common cause of hyponatremia. The aim of this study is to evaluate serum sodium levels in a cohort of patients with hypercalcemia and consider its predictive value in determining the origin of this hypercalcemia.We performed a retrospective study on a series of 15.284 blood tests among adult patients with hypercalcemia. After selection, the study population had 151 patients. We studied mainly serum sodium and etiology of hypercalcemia in our population.We observed a statistically significant association between the presence of hyponatremia and the neoplastic etiology of hypercalcemia. This association persisted after exclusion of patients under treatment with loop diuretics. Conversely, there was no association between hypernatremia and cancer-related hypercalcemia. Among 151 patients with hypercalcemia, 16 presented hyponatremia and 7 with hypernatremia. SIADH was the main cause of hyponatremia. We performed univariate and multivariate logistic regression showing the association between the presence of cancer and the presence of hyponatremia.Our study shows that there is an association between the presence of hyponatremia and neoplastic origin of hypercalcemia. Besides, the association described between hyponatremia and cancer is not faulted by the presence of hypercalcemia, a potential cause of acquired nephrogenic diabetes insipidus.L’hypercalcémie est une condition pathologique courante en pratique clinique. Les deux causes les plus fréquentes sont l’hyperparathyroïdie primaire et le cancer. Le syndrome de sécrétion inappropriée de l’hormone antidiurétique (SIADH) est souvent rencontré dans les cas de cancer, et constitue la cause la plus fréquente d’hyponatrémie. Le but de cette étude est d’évaluer la natrémie dans une cohorte de patients atteints d’hypercalcémie et d’apprécier sa valeur prédictive dans la détermination de l’origine de cette hypercalcémie. Matériel et méthode : Nous avons réalisé une étude rétrospective sur une série de 15.284 analyses sanguines chez des patients adultes hypercalcémiques. Après sélection, la population de l’étude comptait 151 patients. Nous avons étudié principalement la natrémie et l’étiologie de l’hypercalcémie au sein de notre population. Résultats : Nous avons observé une association statistiquement significative entre la présence d’une hyponatrémie et l’étiologie néoplasique de l’hypercalcémie. Cette association persistait après l’exclusion des patients sous traitement par diurétiques de l’anse. Par contre, il n’existait pas d’association entre l’hypernatrémie et l’origine cancéreuse de l’hypercalcémie. Sur 151 patients hypercalcémiques, 16 étaient hyponatrémiques et 7 étaient hypernatrémiques. Un SIADH représentait la cause principale des cas d’hyponatrémie. Nous avons réalisé une régression logistique uni- et multivariée montrant l’association entre l’existence d’un cancer et la présence d’une hyponatrémie.Notre étude montre qu’il existe une association entre la présence d’une hyponatrémie et l’étiologie néoplasique de l’hypercalcémie. Par ailleurs, l’association classiquement décrite entre hyponatrémie et cancer n’est pas prise en défaut par la présence d’une hypercalcémie, cause potentielle de diabète insipide néphrogénique acquis.

Relapsing polychondritis (RP) and immunoglobulin G4–related disease (IgG4-RD) are rare multi-organ immune-mediated diseases. Both can present with nonspecific symptoms of fatigue, weight loss, arthralgia, raised inflammatory markers, or chronic anemia, and diagnostic delay is common. Early recognition and diagnosis are important to minimize morbidity and risk of incapacity as both diseases have a potentially good treatment response.

Objective Intravenous immunoglobulin (IVIG) represents a therapeutic alternative in antineutrophil cytoplasmic antibody–associated vasculitides (AAV), but its efficacy has been evaluated in only 2 small prospective trials. The aim of this study was to evaluate the efficacy and safety of IVIG in patients with AAV. Methods We conducted a nationwide retrospective study of patients who received IVIG as immunomodulatory therapy for AAV. Results A total of 92 patients (mean age 51 years) presenting with either granulomatosis with polyangiitis (Wegener's) (68%), eosinophilic granulomatosis with polyangiitis (Churg-Strauss) (22%), or microscopic polyangiitis (10%) received at least 1 course of IVIG. Antineutrophil cytoplasmic antibodies were present in 72% during the flare that required IVIG, as determined by immunofluorescence assay. IVIG was initiated because of relapsing disease in 83% of cases. IVIG was given for a median of 6 months (range 1–156 months) and in combination with corticosteroids in 21% of the patients or with other immunosuppressive agents in 77%. Efficacy of IVIG was assessed in the entire population and in a subset of 34 patients with unmodified background therapy. Remission rates at 6 months were 56% in the entire population and 58% in the unmodified background therapy group. Refractory disease and treatment failure at 6 months were observed in 7% and 18% in the whole population and 3% and 21% in the unmodified background therapy group, respectively. Adverse events (AEs) occurred in 33%, including serious AEs in 12% and AEs leading to discontinuation of IVIG in 7%. Conclusion This large study shows the clinical benefit of IVIG as adjunctive therapy, with an acceptable tolerance profile, and thus supports its use in AAV patients with refractory or relapsing disease.

Treatment of vasculitides associated with anti-neutrophil cytoplasm antibodies (ANCA) (AAVs) has evolved dramatically in recent years, particularly since the demonstration of rituximab efficacy as remission induction and maintenance therapy for granulomatosis with polyangiitis and microscopic polyangiitis. In 2013, the French Vasculitis Study Group (FVSG) published recommendations for its use by clinicians. Since then, new data have made it possible to better specify and codify prescription of rituximab to treat AAVs. Herein, the FVSG Recommendations Committee, an expert panel comprised of physicians with extensive experience in the treatment and management of vasculitides, presents its consensus guidelines based on literature analysis, the results of prospective therapeutic trials and personal experience.

A young woman presented with initial epileptic seizures and multiple ‘mass-like’ lesions seen on computed tomography and magnetic resonance imaging. Given this presentation and her past medical history, a cerebral biopsy was performed to rule out malignancy, but showed a necrotizing cerebral vasculitis. We describe this case to reinforce the view that primary central nervous system vasculitis (PCNSV) should be considered in the differential diagnosis of a cerebral mass, even if uncommon. LEARNING POINTS PCNSV may cause a variety of clinical manifestations including seizures. PCNSV lesions can mimic a cerebral mass. Brain biopsy remains the gold standard for the diagnosis of PCNSV, especially to rule out a cancer diagnosis.

We describe here the case of a 73-year-old woman who presented a recurrent macular rash, acute respiratory distress, and hemoptysis. Chest CT scan showed diffuse ground-glass opacities that were suggestive of alveolar hemorrhage. With the development of severe acute kidney injury and nephrotic-range proteinuria (creatininemia 2.6 from 1.9 mg/dL with overt proteinuria 34 from 2.1 g/g creat), a kidney-lung syndrome was evoked. Skin biopsy revealed leukocytoclastic vasculitis with IgA deposits. Blood tests showed an increased IgA level. Those findings were consistent with a rare form of IgA vasculitis (formerly Henoch-Schonlein syndrome), the originality of the case lying in the occurrence of a kidney-lung syndrome in an elderly patient.

Determine the frequency of granulomatosis with polyangiitis (GPA) associated with non-identified ANCA (non-MPO, non-PR3 ANCA) and secondarily compare their clinic with GPA associated with MPO-positive or PR3-positive ANCA.In a monocentric retrospective observational study, clinical data of 398 patients with non-identified ANCA (titer of ANCA at least 1/80 by immunofluorescence on ethanol fixed PMN) was gathered over a period of 6 years. GPA patients from this population were compared with GPA patients with identified ANCA on the basis of clinical, biological, immunological and histological features.The most common diseases associated with non-identified ANCA were inflammatory bowel diseases accounting for 17% of diseases. GPA accounted for only 1.8% of cases. There were no significant differences in terms of clinical and histological characteristics between GPA with non-identified ANCA and GPA with identified ANCA, but significantly higher CRP levels were observed in GPA patients with identified ANCA (p = 0.005). Localized disease (ear, nose and throat and/or lung involvement without any other systemic involvement) was more frequent in the group of GPA with nonidentified ANCA (p = 0.047) as compared to GPA with identified ANCA. This explains that the former group of patients was less frequently treated by cyclophosphamide than the latter (p = 0.016).GPA with non-MPO, non-PR3 ANCAs is relatively rare. Our study suggests that GPA with nonidentified ANCA differs from GPA with identified ANCA by the frequency of localized forms.

The objective of this study is to assess the impact of dysnatraemia on mortality among intensive care unit (ICU) patients in a large, international cohort.Analysis of the Extended Prevalence of Infection in Intensive Care (EPIC II) study, a 1-day (8 May 2007) worldwide multicenter, prospective point prevalence study. Hyponatraemia was categorized as mild (130-134 mM/L), moderate (125-129 mM/L) or severe (125 mM/L). Hypernatraemia was also categorized as mild (146-150 mM/L), moderate (151-155 mM/L) or severe (155 mM/L). Patients with normal serum sodium (135-145 mM/L) constituted the reference group. The main outcome was hospital mortality. Analysis was conducted separately for patients admitted on the study day (25.8%) and those already present on the ICU (74.2%).Serum sodium was measured in 13 276 of the 13 796 patients (96.2%). A total of 3815 patients (28.7%) had dysnatraemia: 12.9% with hyponatraemia and 15.8% with hypernatraemia. The prevalence of dysnatraemia was significantly greater in patients already present on the ICU prior to the study day than for those just admitted (13.1% vs. 12.3% for hyponatraemia and 17.1% vs. 12.1% for hypernatraemia, both P0.001). Hospital mortality rates were higher in patients with dysnatraemia than in those with normal sodium levels and were directly related to the severity of hypo- and hypernatraemia. This association between dysnatraemia and mortality was similar in infected and noninfected patients (P = 0.061).Dysnatraemia is more frequent during the ICU stay than on the day of admission. Dysnatraemia in the ICU - even mild - is an independent predictor of increased hospital mortality.

Dermatomyositis (DM) and sarcoidosis are two idiopathic systemic disorders. Reports of patients with both conditions are extremely rare. Here we describe two patients who presented with DM and DM-associated antibodies, and later developed biopsy-proven sarcoidosis. There are increasing reports of the occurrence of sarcoidosis in the context of autoimmune diseases. These observations might imply similarities in the pathogenetic mechanisms. LEARNING POINTS Sarcoidosis should be considered in patients with dermatomyositis (DM) presenting with enlarged lymph nodes. Contrary to the principle of Occam’s razor, in this case one diagnosis does not rule out the other. The pathophysiology of sarcoidosis and DM involves both Th1 and Th17 inflammatory responses, which may explain the overlap of these two diseases

Still's disease is an inflammatory disorder of unknown etiology. First-line therapy is based on corticosteroids and non-steroidal anti-inflammatory drugs (NSAIDs) but the frequency of relapses and corticosteroid-induced adverse events are limiting factors. The efficacy of intravenous tocilizumab (TCZ) has been shown at a dose of 8 mg/kg but the corticosteroid-sparing effect of intravenous low-dose TCZ followed by subcutaneous (SC) injection in the course of the disease has been poorly investigated. We report the case of a 28-year old Caucasian woman presenting a relapse of Still's disease eleven months after diagnosis under treatment with 6 mg of methylprednisolone. TCZ at a dose of 4 mg/kg every 2 weeks was combined with 32 mg of methylprednisolone, followed by 162 mg SC every 3 weeks. Evolution was rapidly favourable with a decrease in corticosteroid doses. We reviewed previously published cases., SCOPUS: ar.j, info:eu-repo/semantics/published

Background Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a recently described entity, linked to gain-of-function mutations (R137C and R137L) in arginine vasopressin (AVP) gene leading to chronic activation of tubular V2 AVP receptor (V2R) and thus free water reabsorption. In addition to collecting duct cells, the V2R is also expressed in endothelial cells, where it mediates the rise in circulating levels of von Willebrand factor (vWF) and coagulation factor VIII (fVIII). Recent in vitro data showed that these mutant receptors are resistant to vasopressin-stimulated cAMP production. We aimed to explore by clinical observations the sensitivity to vasopressin of the R137C-V2R mutant in vivo. Material and methods We performed a stimulation test with 1-desamino-d arginin vasopressin (dDAVP) 0·3μg/kg of bodyweight in three patients (two hemizygous male and one heterozygous female) with NSIAD with R137C mutation and measured on the one hand the levels of vWF and fVIII and the other hand urine osmolality and albumin excretion (UAE). Results Whereas the female heterozygous patient displayed normal response to simulation by dDAVP (except for UAE), no increase in vWF, fVIII, urinary osmolality and UAE was observed among hemizygous male patients. Conclusions Coherent with in vitro observation in transfected cells, our clinical observations demonstrate that the R137C-V2R mutant is resistant to vasopressin stimulation in its physiological sites of expression. © 2011 The Authors. European Journal of Clinical Investigation © 2011 Stichting European Society for Clinical Investigation Journal Foundation.

Introduction Nous avons recemment rapporte les anomalies observees a la faveur d’une serie multicentrique de 44 Tomographies par emission de positrons au 18Flurorodeoxyglucose couplees a un scanner du corps entier (18FDG TEP-scan) realisees chez 33 patients avec vascularites a ANCA (VAA). En particulier, nous avons observe 8 patients (24 %) presentant un hypermetabolisme aortique, suggestif de par son intensite d’une aortite inflammatoire [1] . Une atteinte asymptomatique de l’aorte a egalement ete rapportee dans une serie de 16 patients avec VAA, mais seulement chez 2 patients avec GEPA [2] . L’objectif de cette etude est de reevaluer la frequence et les caracteristiques cliniques et iconographiques des patients de notre serie monocentrique, dans la mesure ou la limite des inclusions pour la serie publiee avait ete fixee a juin 2013. Patients et methodes Nous avons revu toutes les 18FDG TEP-scan realisees chez des patients avec VAA entre mars 2006 et aout 2016 et nous sommes specifiquement focalises sur la recherche de zones hypermetaboliques de l’aorte et/ou des vaisseaux de gros calibre. Des zones d’hypermetabolisme ont egalement systematiquement ete recherchees dans d’autres organes. Pour chaque patient, nous avons notamment pris en consideration la survenue d’evenements cliniques cardiovasculaires et avons pose le diagnostic approprie selon la classification des VAA. Resultats Vingt-deux patients ont beneficie de la realisation d’une ou plusieurs 18FDG TEP-scan dans le cadre du bilan d’une VAA (soit en cours de suivi, soit a la faveur du bilan initial). Quatre de ces patients (18,2 %) presentaient un hypermetabolisme de l’aorte thoracique sur au moins un des examens realises, chez un des patients un hypermetabolisme de l’aorte abdominale etait egalement constate. Le diagnostic pose etait a chaque fois une granulomatose avec polyangeite (Wegener/GPA). Aucun des patients n’avait presente un des evenements cardiovasculaires listes dans le Birmingham Vasculitis Activity Score (version 3). On ne constatait un impact clinique de l’inflammation vasculaire que chez un seul des 4 patients, sous forme d’un souffle de l’artere sous-claviere gauche ayant fait discuter un syndrome de chevauchement entre GPA et maladie de Takayasu. Outre l’hypermetabolisme aortique, des elements atypiques de la maladie etaient observes chez plusieurs des patients. Le Five Factors Score etait egal a 0 chez tous les patients. Conclusion Cette serie monocentrique suggere que la survenue d’une aortite au cours des VAA est sous-estimee par les techniques d’imagerie conventionnelle. Bien que les anomalies au 18FDG TEP-scan n’etaient pas associees avec des symptomes cardiovasculaires evidents, nous pensons qu’elles accreditent le concept recent du phenotype « VAA cardiovasculaire », propose par Mahr et al. [3] . Ce phenotype representait 9 % d’une serie de 673 patients avec VAA ayant fait l’objet d’une cluster analysis. Enfin, l’atteinte de vaisseaux de gros calibre au cours d‘une VAA renforce le concept de la nomenclature de Chapel-Hill qui classifie les vascularites selon la taille des vaisseaux atteints de facon predominante mais non exclusive.

Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a recently described genetic cause of hyponatremia in male infants. Whether this X-linked condition could be detected in the adult or also could affect women is unknown. A large five-generation family was identified in which the recently described arginine-vasopressin receptor type 2 (AVPR2) mutation that is responsible for NSIAD was segregated. The proband was a 74-yr-old patient who had a syndrome of inappropriate antidiuresis and whose hyponatremia resisted administration of two AVPR2 antagonists. The phenotype of family members who carry the mutation was investigated. Patients with normal serum sodium were subjected to a water-load test. The previously reported activating missense R137C mutation in the AVPR2 gene in three hemizygous male and four heterozygous female individuals was identified. Except in one woman, spontaneous episodes of hyponatremia or abnormal water-load test were identified in all patients with the mutation, whether male or female. Skewed X inactivation was evidenced in the blood of the asymptomatic woman, which is compatible with preferential inactivation of her mutated allele. NSIAD is not limited to male infants. The diagnosis also should be considered in both male and female adults.

Hyponatremia is associated with unstable gait and propensity to falls. The potential contribution of peripheral nervous system dysfunction induced by hyponatremia has not yet been addressed by prospective studies.In the first part of this prospective study, we performed two tests evaluating muscle strength (grip test and quadriceps isometric contraction test) together with a timed up and go (TUG) test in 11 patients with chronic mild-to-moderate hyponatremia before and after the normalization of natremia. In the second part, we measured nerve conduction velocities and F-wave latencies in nine patients with profound hyponatremia (125 mmol/L) before and after the normalization of natremia.No significant change in muscle strength was observed when natremia was corrected from 127·7 ± 2·5 to 136·1 ± 1·8 mmol/L, contrary to a significant improvement in TUG from 14·9 ± 5·1 to 12·5 ± 4·7 s (P = 0·006). Nerve conduction velocities and F-wave latencies showed significant improvement in most of the studied nerves when natremia was corrected from 121·9 ± 2·4 to 135·5 ± 3·4 mmol/L (e.g. mean increase of 14·3% for motor nerve conduction and mean decrease of 21·6% for F-wave latency of left peroneal nerve).Whereas chronic mild-to-moderate hyponatremia has no impact on muscle strength, we demonstrate for the first time an impact of profound hyponatremia on nerve conduction studies. Further studies are needed to ascertain the contribution of these latter results on gait disturbances, propensity to falls and attention deficits associated with hyponatremia.

Background: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare X-linked disease due to gain-of-function mutations in the AVP V2 receptor gene. Hemizygous males present with recurrent episodes of severe hyponatremia in infancy. Heterozygous females are usually asymptomatic. Case Report: We report on a 23-day-old female neonate, born at term with 3,260 g that presented with recurrent hyponatremia (Na between 124 and 134 mmol/l) due to NSIAD. She was a heterozygous carrier of the c.409 C>T mutation in the AVPR2 gene. Conclusions: This is the first report of a female neonate presenting with hyponatremia due to NSIAD. The diagnosis of NSIAD should not be limited to male infants and should also be considered in female infants with the clinical picture of inappropriate antidiuresis.

A 25-year-old Caucasian man is admitted to hospital because of severe hyperthyroidism. Soon after his admission, he develops a lower limbs proximal muscles paresis with tendinous hyporeflexia. He has presented similar episodes in the previous months. Serum potassium level is 2.9 meq/l whereas it was 4.1 meq/l a few hours before. The patient receives intravenous potassium and propranolol. He will not develop a similar episode afterwards. Hypokalemic thyrotoxic periodic paralysis associated with Basedow's disease is diagnosed. Hypokalemic thyrotoxic periodic paralysis is a very rare cause of intermittent muscular weakness in the young Caucasian male. The frequency of this entity is at least ten times higher in Asiatic hyperthyroid people. Its physiopathology involves intracellular potassium shifts in which Na/K ATP-ases of cell membranes, the number and the activity of which increase in hyperthyroid people, seem to play a major role. Treatment consists of correction of hyperthyroidism and administration of potassium during the acute episode Propranolol is efficient in preventing recurrent episodes of paralysis. Points of comparison between hypokalemic thyrotoxic periodic paralysis and hypokalemic familial periodic paralysis are discussed.

Introduction La granulomatose avec polyangeite (GPA/Wegener) est une vascularite necrosante systemique des petits vaisseaux. L’atteinte neurologique centrale combine classiquement une meningite lymphocytaire et une atteinte multiple de nerfs crâniens. Observation Une patiente de 54 ans, sans antecedents medicaux notables, se presente avec des cephalees d’apparition progressive depuis deux mois, centrees sur l’oreille gauche, irradiant dans toute l’hemiface. Ces episodes recidivants de cephalee avaient temporairement disparu grâce a un traitement par corticoides prescrit pour hypoacousie aigue bilaterale. La patiente a perdu 10 kilos en 8 mois dans un contexte d’odynophagie et asthenie. L’examen neurologique est normal hormis une paresie de l’hemilangue gauche. Les examens biologiques revelent une hyperplaquettose et une vitesse de sedimentation (VS) a 92 mm/H. Les ANCA sont titres a 1/160, de specificite antigenique anti-proteinase 3. L’ARM demontre une stenose de la portion pre-petreuse des deux arteres carotides internes, associee a un processus infiltrant de l’espace carotidien et une pachymeningite. Une lesion nodulaire sous-pleurale apicale gauche et les espaces carotidiens sont hypermetaboliques en TEP-FEDG. L’artere temporale a un aspect histologique normal. La fibroscopie nasale retrouve des zones necrotico-hemorragiques au niveau du bourrelet tubaire gauche caracterisees par la presence de lesions granulomateuses avec quelques cellules geantes (marquages CD68, CD34 positifs). Un diagnostic de GPA est pose. Discussion Les cephalees unilaterales et les stenoses carotidiennes dans un contexte inflammatoire evoquent une maladie de Horton. Cependant, l’imagerie a mis en evidence non pas une atteinte vasculitique per se des carotides mais un infiltrat d’allure inflammatoire des espaces carotidiens et de l’apex pulmonaire finalement attribue a une GPA sur base de la presence de granulomes a l’histopathologie et de cANCA anti-proteinase 3. Conclusion Nous decrivons un cas de GPA dont l’originalite consiste en une infiltration inflammatoire des espaces carotidiens responsable d’une paresie isolee du XII gauche et de cephalees homolaterales.

Oral urea has been used in the past to treat various diseases like gastric ulcers, liver metastases, sickle cell disease, heart failure, brain oedema, glaucoma, Meniere disease, etc. We have demonstrated for years, the efficacy of urea to treat euvolemic (SIADH) or hypervolemic hyponatremia. We briefly describe the indications of urea use in symptomatic and paucisymptomatic hyponatremic patients. Urea is a non-toxic, cheap product, and protects against osmotic demyelinating syndrome (ODS) in experimental studies. Prospective studies showing the benefit to treat mild chronic hyponatremia due to SIADH and comparing water restriction, urea, high ceiling diuretics, and antivasopressin antagonist antagonist should be done., SCOPUS: ar.j, info:eu-repo/semantics/published

FIGURE. A, FDG-PET/CT fusion image with aortic and cervical hypermetabolism. B, Sagittal view of cervical magnetic resonance image with pachymeningitis (arrow). From the Department of Internal Medicine, Erasme University Hospital, Brussels, Belgium. A 64-year-old woman presented with cervical and shoulder pain with elevated C-reactive protein. The workup revealed an antimyeloperoxidase antineutrophil cytoplasmic antibody-associated vasculitis (AAV), proven by biopsy. Aortic hypermetabolism was demonstrated on F-18 fluorodeoxyglucose positron emission tomography/ computed tomodensitometry (FDG-PET/ CT) performed because of the initial suspicion of giant cell arteritis. The patient was treated with methotrexate and steroids. During follow-up, an FDG-PET/CT showed persistent aortic as well as cervical spine hypermetabolism (Figure, A). The latter was shown to be cervical pachymeningitis by magnetic resonance imaging (Figure, B), although the patient did not experience any neurological symptoms (Supplemental Figures 1, 2, and 3, available online at http://www.mayoclinicproceedings.org). The finding of hypermetabolism in a large vessel such as the aorta is quite unexpected in the setting of AAV, which mainly involves small vessels, but this finding has been described. In contrast, cervical pachymeningitis in the setting of AAV has, to the best of our knowledge, never been found by FDG-PET/CT, notably in 2 recently published case series on the clinical value of FDG-PET/CT in AAV. This exceptional case brings additional data to the concept that FDG-PET/CT may identify more organ involvement than usual organ screening identifies.

We report the case of a 45-year-old female patient who developed phosphate diabetes after administration of ferric carboxymaltose. Ten days after the second dose, she complained of intense fatigue and blood analysis showed a phosphate plasma level of 0.93 mg/dL with phosphate excretion rate of 23%. She received phosphate supplementation which resulted in phosphate clearance improvement which persisted for two months. We reviewed other cases described in the literature and would draw attention to this rare but potentially life-threatening side effect.

Background A recent study has revealed that acute and chronic administration of the vasopressin V2 receptor (V2R) agonist dDAVP induced a marked increase of urinary albumin excretion (UAE) in healthy rats and humans (Bardoux P et al. Nephrol Dial Transplant 2003; 18: 497-506). The occurrence of an elevation of UAE among patients with chronic syndromes of inappropriate antidiuresis has not been reported. Methods We looked for the elevation of UAE in 24-h urine samples of the following patients: nine chronic SIADH patients, two patients with acute post-operative SIADH, three patients of the same family with nephrogenic syndrome of inappropriate antidiuresis (NSAID) and two patients with hyponatraemia due to surdosage of dDAVP in the setting of central diabetes insipidus. Results There was no elevation of UAE in our patients (whether they presented with hyponatraemia or not), apart from a patient treated with supra-physiological doses of dDAVP. When she received 80 microg/day of dDAVP, her UAE was 42 mg/day. In this patient, UAE returned to the normal range (21 mg/day) when doses of dDAVP were tapered (20 microg/day). Conclusion The present study shows that chronic V2R stimulation generally does not result in a rise in UAE. The discrepancy between our results and those of the above-mentioned study could be explained by a dose-dependent effect of V2R stimulation on UAE.

Resume Alors que la thrombose cave superieure est une manifestation rare mais bien connue de la maladie de Behcet, il n’existe, dans la litterature, qu’une seule observation de syndrome cave superieur par vasculopathie, sans thrombose. Nous decrivons deux nouvelles observations de ce tableau exceptionnel. Les manifestations inaugurales consistaient chez les deux malades en un œdeme du visage et une aphtose buccale. Une stenose cave superieure a ete mise en evidence par angiotomodensitometrie et par cavographie classique. Chez les deux malades, l’association d’un traitement anticoagulant et d’immunosuppresseurs (corticoides et azathioprine) a permis d’augmenter significativement le diametre de la lumiere cave superieure. Nous estimons qu’il existe un continuum entre la vasculopathie sans occlusion et l’occlusion par thrombose de la veine cave superieure. Les thromboses observees dans la maladie de Behcet sont attribuees principalement a des lesions vasculaires inflammatoires provoquees par la vascularite. L’epaississement de la paroi veineuse observee chez nos malades reflete probablement ces lesions inflammatoires. En conclusion, la maladie de Behcet doit faire partie du diagnostic differentiel du syndrome cave superieur d’origine non thrombotique.

Background: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a disorder of water balance linked to gain-of-function mutation of arginine vasopressin receptor type 2 (AVPR2) resulting in free water reabsorption and episodes of hyponatremia. Aims: To review the long-term treatment of NSIAD. Methods: In the first part of this paper, we report 3 cases of male patients presenting with hyponatremia due to NSIAD. The second part consists of a comprehensive review of all published case reports. Results: In our experience, long-term fluid restriction (FR) and treatment with low doses of urea are efficient and well tolerated. Episodic intake of urea seems sufficient in some patients. Treatment data were available for 13 of the 16 hyponatremic patients reported in the literature. Each of these 13 patients had regulated fluid intake. Six of the patients received urea with no reported failure to correct hyponatremia and 5 received NaCl supplementation with varying efficacy. The AVPR2 antagonists tolvaptan and satavaptan (prescribed before the diagnosis of NSIAD was made) showed no efficacy in 1 patient. Conclusions: NSIAD is quite easy to treat with FR and urea in adults as well as in children, with good compliance and efficacy. Of note, FR is well tolerated, suggesting that NSIAD may differ from other causes of syndrome of inappropriate antidiuretic hormone secretion by reduction of thirst intensity due to lower levels of AVP (which stimulates thirst). In eventual refractory cases, furosemide (associated with NaCl supplementation) would represent a valuable therapeutic option by analogy of its efficacy in syndrome of inappropriate antidiuretic hormone secretion.