A new millennium for women and kidney disease

Introduction: Taking advantage of this year’s synergy, as World Kidney Day (WKD) and International Women’s Day fall on the same day, the theme chosen for WKD 2018 was “Kidneys and Women’s health”, drawing the attention of the nephrology community to the special features of diseases of the kidney as they affect women. When focusing on this subject, we come to see the major gaps in this area of knowledge. On one hand, it is now comprehensively accepted that there are unique biological and behavioral differences resulting in sex/gender variances, albeit mostly in favour of women. However, on the other, despite mounting evidence in multiple medical disciplines, these disparities have not been so well explored in nephrology, and so we try, in this editorial, to review current knowledge n this field.info:eu-repo/semantics/publishedVersio

LESIÓN RENAL AGUDA OBSTRUCTIVA CON MANTENIMIENTO DE LA DIURESIS: UN CASO DE BIFIDEZ URETERAL

Percutaneous kidney biopsy in transplanted kidneys remains an essential and commonly performed procedure required for diagnostic and prognostic information. Hemorrhage is the main complication of renal graft biopsy. We report a case of a 47-year-old caucasian woman admitted to perform an ultrasound (US)-guided biopsy of the renal graft. Six hours later, she presented with macroscopic hematuria which improved after urethral catheterization and intravenous hydration. However the hematuria reappeared associated with anemia and worsening of the serum creatinine value. Te US study, revealed hydronephrosis with high Doppler derived renal resistive index compatible with clot obstruction. Despite the vesical lavage nd intravenous hydration. However the hematuria reappeared associated with anemia and worsening of the serum creatinine value. Te US study, revealed hydronephrosis with high Doppler derived renal resistive index compatible with clot obstruction. Despite the vesical lavage with drainage of several clots, the patient rapidly progressed to hemorrhagic shock with worsening of renal function. Pelvic computed tomography (CT) revealed calyx and pelvis duplicity and ureter bifdity which merged into a single ureter and inserted into the right anterolateral wall of the bladder. Te inferior ureter was enlarged due to an obstructive clot. Most acute obstructive uropathies are associated with signifcant pain or the abrupt diminution of urine fow. Te presence of ureter bifdity in the CT study explained the maintenance of signifcant diuresis despite obstruction, located only to the lower ureter but with sufcient functional impact to condition acute kidney injury (AKI).La biopsia renal percutánea en riñones trasplantados sigue siendo un procedimiento esencial y común, necesario para obtener información diagnóstica y pronóstica. La hemorragia es la principal complicación de la biopsia de injerto renal. Presentamos un caso de una mujer caucásica de 47 años, quien fue hospitalizada para la realización de una biopsia de injerto renal guiada por ultrasonido (US). Seis horas después, presentó hematuria macroscópica que mejoró después de la cateterización uretral e hidratación intravenosa. Sin embargo, la hematuria reapareció asociada con anemia y empeoramiento del valor sérico de creatinina. El estudio de US reveló, mediante Doppler, una hidronefrosis con alto índice de resistencia renal, compatible con obstrucción por un coágulo. A pesar del lavado vesical con drenaje de varios coágulos, la paciente progresó rápidamente a choque hemorrágico con empeoramiento de la función renal. La tomografía computarizada (TC) pélvica reveló la duplicidad del cáliz y la pelvis y la bifdez ureteral, que se fusionó en un solo uréter y se insertó en la pared anterolateral derecha de la vejiga. El uréter inferior se agrandó debido a un coágulo obstructivo.La mayoría de las uropatías obstructivas agudas están asociadas con dolor signifcativo o la disminución abrupta del fujo de orina. La presencia de la bifdez del uréter en el estudio de TC explicó el mantenimiento de una diuresis signifcativa a pesar de la obstrucción, localizada solo en el uréter inferior, pero con sufciente impacto funcional como para provocar insufciencia renal aguda (IRA).info:eu-repo/semantics/publishedVersio

Celiac Disease as a Rare Cause of Membranous Nephropathy: A Case Report

Membranous nephropathy is the most common cause of nephrotic syndrome in adults. A non-negligible number of cases are associated with systemic conditions. We report a case of a 50-year-old man who presented with nephrotic syndrome six months after being diagnosed with celiac disease. Although the patient showed disappearance of circulating immunoglobulin A (IgA) anti-tissue transglutaminase antibodies following a gluten-free diet, he had a sudden onset of nephrotic syndrome presenting with severe hypoalbuminemia. Other secondary causes were promptly excluded leading to the assumption of celiac disease-associated membranous nephropathy with remission after treatment with angiotensin system blockade and a gluten-free diet. The goal of this case report is to alert the clinic towards this rare association aiming for an early diagnosis and adequate selection of long-term therapy.info:eu-repo/semantics/publishedVersio

IgA dominant glomerulonephritis associated to staphylococcus infection: a peculiar case report

IgA dominant glomerulonephritis associated to Staphylococcus infection is a rare clinical entity that has been described mainly in case reports. Biopsy features can resemble other disease entities mainly IgA nephropathy and Henoch‑Schönlein purpura nephritis. Treatment of IgA dominant glomerulonephritis associated to staphylococcal infection is based on antibiotics for the underlying infection, controlling hypertension and edema and may resort to concomitant use of steroids in selected cases. Prognosis markers such as hypertension, diabetes and interstitial fibrosis may influence treatment as they are associated with poor renal outcomes. We report a case of a 63‑year‑old man with known hypertension, pre‑diabetes and recent history of methicillin‐sensitive staphylococcus aureus bacteremia associated to prostatitis, who presented with a one‑month history of edema, arthralgia and foamy urine. Over this period he progressed to anasarca and nephrotic range proteinuria with concomitant rise in creatinine levels being documented. The renal biopsy showed segmental endocapillary proliferation and IgA segmental dominant staining associated to C3 and lambda in minor distribution. On completion of two months of steroid therapy the patient partially recovered his renal function and proteinuria. After nine months of tapering steroids, he presented with acute inflammatory arthritis supporting an inflammatory background disease. To our knowledge this case describes an unusual entity such as IgA dominant glomerulonephritis associated to staphylococcal infection co‑presenting with an associated reactive arthritis.info:eu-repo/semantics/publishedVersio

Impact of Pancreatic Autoantibodies in Pancreas Graft Survival After Pancreas-Kidney Transplantation

In simultaneous pancreas-kidney transplantation (SPKT), persistence or recurrence of pancreatic autoantibodies (PAs) has been associated with pancreas graft (PG) autoimmune-driven injury. Our aim was to analyze the impact of PAs on PG survival.Methods. Between January 1, 2000, and December 31, 2017, we studied 139 patients with post-SPKT antieglutamic acid decarboxylase (GAD) autoantibody. Alloimmune (ALI) events were defined as PG rejection and/or de novo donor-specific antibodies (DSA).Hence, 3 groups were defined: patients without ALI events or anti-GAD (n ¼ 42), those with ALI events (n ¼ 14), or those only with autoimmune events (positive for anti-GAD and no ALI events; n ¼ 83). Results. Male sex was predominant (n ¼ 72, 52%). Median age was 35 years (interquartile range: 31-39) and median follow-up was 6-7 years (interquartile range: 4.1-9.2). Regarding anti-GAD positivity post-SPKT (n ¼ 90, 65%), no differences were observed concerning age, sex, anti-HLA antibodies, HLA mismatch number and de novo DSA. ALI events were present in 10% (n ¼ 14). PG survival 15 years post-SPKT was better in patients without immune events (96%) followed by those with ALI (69%) and autoimmune events (63%) (P ¼ .025). Anti-GAD was associated to higher annualized mean Hb1AC (P ¼ .006) and lower mean C-peptide (P ¼ .013). According to pre- and post-SPKT anti-GAD status, conversion from negative to positive was associated to worse (63%) 10-year PG survival (P ¼ .044), compared to persistence of negative (100%) or positive anti-GAD (88%). Anti-islet cell and anti-insulin autoantibodies had no impact. Conclusion. Anti-GAD presence post-SPKT was associated to higher pâncreas disfunction and lower PG survival. De novo anti-GAD seems to offer a particular risk of PG failure.info:eu-repo/semantics/publishedVersio

Hemangioma infantil : clínica fisiopatologia e tratamento

Trabalho final de mestrado integrado em Medicina (Dermatologia), apresentado à Faculdade de Medicina da Universidade de CoimbraO hemangioma infantil (HI) é o tumor cutâneo mais frequente nas crianças. Este resulta da proliferação de células endoteliais imaturas e ao contrário de outros tumores surge após o nascimento e involui espontaneamente na maioria dos casos. O presente artigo de revisão foi feito com base numa pesquisa bibliográfica acerca de vários temas relacionados com esta patologia de modo a obter uma visão ampla da epidemiologia, fisiopatologia, histopatologia, clínica, complicações, diagnóstico e opções terapêuticas existentes. Os factores de risco associados ao desenvolvimento deste tumor são a idade materna avançada, gestação múltipla, placenta prévia, pré-eclampsia, prematuridade e o baixo peso á nascença sendo este último o mais relevante. Hoje pensa-se que a histogénese do HI proviria de angioblastos residentes ou circulantes, células de origem placentar embolizadas ou células stem hemangioblastoídes. Estudos recentes apontam ainda para uma possível regulação da proliferação celular endotelial progenitora e diferenciação pelo sistema renina angiotensina (SRA). Na maioria dos casos, o HI apresenta-se clinicamente sob a forma superficial e localizada. As áreas mais afectadas são a cabeça e o pescoço. Este tumor vascular pode ainda surgir associado a síndrome PHACE, síndrome PELVIS, síndrome SACRAL e hemangiomatose. O diagnóstico baseia-se essencialmente na clínica e no exame físico. Os exames de imagem estão reservados para casos duvidosos ou atípicos. Dado a involução espontânea característica, muitas vezes a opção terapêutica passa pela abordagem “wait and see”. No entanto, alguns hemangiomas podem levar a morbilidades cosméticas e funcionais e nestes casos é necessário proceder a uma intervenção terapêutica activa FMUC Hemangioma Infantil: Clínica, Fisiopatologia e Tratamento 3 e precoce. Existe um leque variado de opções terapêuticas. O tratamento médico é considerado 1ª linha nomeadamente a corticoterapia e o propranolol. Outras modalidades médicas como a imiquimod, ciclofosfamida, interferão, vincristina, bleomicina e escleroterapia ficam reservados para casos seleccionados ou resistentes á terapêutica de 1ª linha. A terapêutica cirúrgica normalmente é mais dirigida ao tratamento de hemangiomas superficiais (laser) ou remoção de tecido involutivo (excisão cirúrgica)Infantile hemangioma (IH) is the most common skin cancer in children. It results of immature endothelial cellular proliferation and unlike other tumors it appears after birth and involutes spontaneously in most cases. This revision article was elaborated based on a research of the current scientific literature about several aspects related to this abnormality to achieve wide information about epidemiology, pathophysiology, histopathology, clinical features, complications, diagnosis and several options of available treatment. The risk factors associated to the development of this tumor are advanced maternal age, multiple pregnancy, placenta praevia, pre-eclampsia, pre-term birth and low birth weight this last one being the most important factor. It is believed that the histogenesis of IH would come from resident or circulating angioblasts, embolized cells originating from placenta or hemangioblast stem cells. Recent studies point to a possible regulation of progenitor cellular endothelial proliferation and differentiation by renin-angiotensin system (RAS). In the majority of cases, its most common clinical form is superficial and localized. The areas most commonly involved are the head and neck. This vascular tumor can appear associated to PHACE syndrome, PELVIS syndrome, SACRAL syndrome and hemangiomatosis. The diagnosis is based essentially in clinical and physical examination. The imaging tests are reserved for doubtful or atypical cases. Due to the spontaneous involution characteristic, usually the therapeutic option is the approach “wait and see”. However, some hemangiomas can lead to cosmetic and FMUC Hemangioma Infantil: Clínica, Fisiopatologia e Tratamento 5 functional morbidities and in these cases it's necessary to proceed to an active and early therapeutic intervention. There is an array of therapeutic options. The medical treatment is considered first line, namely the corticotherapy and propranolol. Other medical modalities such as imiquimod, cyclophosphamide, interferon, vincristine, bleomicin and sclerotherapy are reserved to selected cases or when first line treatment fails. Surgical treatment is usually indicated to superficial hemangiomas (laser) or removal of involuted tissue (surgical excision

Systematic account of new Porifera (Demospongiae) records from the oceanic Island of Madeira (NE Atlantic)

International audienc

Fabry disease in patients under dialysis: A screening study and identification of a novel mutation

Fabry disease (FD) is a rare systemic disease, with a large spectrum of disease severity. A GLA gene mutation in X‑chromosome leads to progressive accumulation of globotriaosylceramide (Gb3) in various organs. We screened all patients under dialysis from a single center for GLA gene changes. Enzymatic activity of alpha galactosidase A (α‑Gal A) and concentration of lyso‑Gb3 were determined in dried blood spots. Genetic study was performed in male patients with low α‑Gal A activity and in all female subjects. For all positive patients, a complete family study was performed. A total of 72 dialysis patients were screened. Sequence analysis was carried out in 53 patients (25 males). Heterozygous variants of the GLA gene were found in 4 patients (7.5%): c.937G>T (D313Y) in exon 6; c.352C>T (R118C) in exon 2; c.870G>C (M290I) in exon 6 and c.580A>G (T194A) in exon 4. Family screening was performed in a total of 17 subjects, with a GLA genetic variant prevalence of 58.8%. Unlike p.D313Y and p.R118C, well‑known non‑pathogenic polymorphisms, p.M290I is a controversial poorly described mutation. Reports about its phenotypic expression are crucial for a better understanding of its behavior. The recognition of the novel mutation p.T194A is importante for better knowledge of FD and its spectrum of clinical manifestations. These affected patients are expected to develop a classic and life‑threatening FD phenotype and an early diagnosis is essential for their treatment success.info:eu-repo/semantics/publishedVersio

Élimination du sodium en dialyse péritonéale : existe-t-il de la place pour un nouveau paramètre dans l'adéquation de la dialyse ?

In peritoneal dialysis (PD) (as well as in hemodialysis) small solute clearance measured as Kt/v urea has long been used as a surrogate of dialysis adequacy. A better urea clearance was initially thought to increase survival in dialysis patients (as shown in the CANUSA trial)(1), but  reanalysis of the data showed a superior contribution of residual renal function as a predictor of patient survival. Two randomized controlled trials (RCT)(2, 3)  supported this observation, demonstrating no survival benefit in patients with higher achieved Kt/v. Then guidelines were revised and a minimum Kt/v of 1,7/week was recommended but little emphasis was given to additional parameters of dialysis adequacy. As such, volume overload and sodium removal have gained major attention, since their optimization has been associated with decreased mortality in PD patients(4, 5). Inadequate sodium removal is associated with fluid overload which leads to ventricular hypertrophy and increased cardiovascular mortality(6). Individualized prescription is key for optimal sodium removal as there are differences between PD techniques (CAPD versus APD) and new strategies for sodium removal have emerged (low sodium solutions and adapted PD). In conclusion, future guidelines should address parameters associated with increased survival outcomes (sodium removal playing an important role) and abandon the current one fit all prescription model.En dialyse péritonéale (DP), ainsi qu'en hémodialyse (HD), une faible clairance du soluté mesurée par le Kt/ V urée a longtemps été utilisée comme représentant l'adéquation de la dialyse. On pensait initialement que l'amélioration de la clairance de l'urée augmentait la survie des patients dialysés (comme le montrait l'essai CANUSA) (1), mais la réanalyse des données a montré une contribution supérieure de la fonction rénale résiduelle en tant que facteur prédictif de la survie du patient. Deux essais contrôlés randomisés (ECR) (2, 3)ont confirmé cette observation, ne montrant aucun bénéfice en termes de survie chez les patients présentant un Kt/ V supérieur. Ensuite, les recommandations ont été révisées et un Kt/ V minimum de 1,7 / semaine a été recommandé, mais peu d'attention a été accordée aux paramètres supplémentaires de l'adéquation de la dialyse. En tant que telles, la surcharge volumique et l'élimination du sodium ont retenu l'attention, leur optimisation étant associée à une diminution de la mortalité chez les patients en DP(4, 5). Une élimination inadéquate du sodium est associée à une surcharge liquidienne qui conduit à une hypertrophie ventriculaire et à une mortalité cardiovasculaire accrue(6). La prescription individualisée est essentielle pour une élimination optimale du sodium car il existe des différences entre les techniques de DP, dialyse péritonéale continue ambulatoire et dialyse péritonéale automatisée (DPCA et DPA), et de nouvelles stratégies d'élimination du sodium ont émergé (solutions à faible teneur en sodium et DP adaptée). En conclusion, les futures recommandations devraient traiter des paramètres associés à des résultats de survie améliorés (l'élimination du sodium jouant un rôle important) et abandonner le modèle actuel de prescription unique