SNefroP - Serviço de Nefrologia Pediátrica
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- Homocysteine levels in pediatric renal transplant recipients.Publication . Mota, C.; Fonseca, Isabel; Santos, M.J.; Costa, T.; Faria, M.S.; Henriques, A.C.; Sarmento, A.M.; Pereira, E.; Pereira, M.Transplant Proc. 2003 May;35(3):1093-5. Homocysteine levels in pediatric renal transplant recipients. Mota C, Fonseca I, Santos MJ, Costa T, Faria MS, Henriques AC, Sarmento AM, Pereira E, Pereira M. Department of Paediatric Nephrology, Maria Pia Children's Hospital, R. da Boavista, 827, 4050-111, Porto, Portugal. ccmotacosta@hotmail.com PMID: 12947872 [PubMed - indexed for MEDLINE
- Refluxo vésico-ureteral em crianças com diagnóstico pré-natal de hidronefrose - Características e evoluçãoPublication . Hernandez, T.; Madalena, C.; Teixeira, P.; Matos, P.Objectivo: conhecer as características e evolução do Refluxo vésicoureteral ( RVU) de diagnóstico pré-natal, nas crianças vigiadas numa na Consulta de Nefrologia Pediátrica nos último 10 anos. Material e Métodos: entre Janeiro de 1992 e Dezembro de 2002 foram enviados à consulta 322 crianças com diagnóstico pré-natal de uropatia malformativa. Destas, 216 tinham critérios para realizar Cistouretrografia miccional seriada (CUMS) e 29 apresentaram RVU primário (foram excluídos os casos de RVU associados a duplicação do pieloureteral, síndrome de junção ou válvulas da uretra posterior). Os parâmetros analisados neste grupo de doentes foram: sexo, frequência de infecção urinária, evolução ecográfica, avaliação das lesões renais através da gamagrafia renal com DMSA e CUMS seriada. Resultados: verificámos um predomínio do sexo masculino, numa relação de 4:1, e do RVU unilateral, num total de 41 Unidades refluxivas ( UR). A ecografia pós-natal do rim homolateral foi normal em 14/41 UR. A gravidade do RVU foi maior no sexo masculino relativamente ao feminino ( dos RVU graus IV e V, 13/ 15 eram rapazes); a lesão renal difusa predominou também nos rapazes: 10/11 casos. Na maioria dos casos o RVU revelou-se uma situação benigna: 26/41 das UR apresentavam RVU moderado, 27/41 não apresentavam lesões renais e nas 21 crianças que repetiram a CUMS o RVU regrediu completamente em 11 casos (8 dos casos de RVU moderado e em 3 dos casos de RVU grave) e parcialmente em 4. Conclusão: os resultados do nosso estudo mostram que a maioria das crianças com RVU de diagnóstico prénatal teve evolução favorável e apenas em 20% dos casos foi necessário intervenção cirúrgica. Os rapazes apresentaram RVU mais grave e mais frequentemente associado a lesão renal difusa e necessitam, por isso, de atenção especial. Os autores salientam a necessidade de estudos cooperativos com amostras de maior dimensão para o estabelecimento de estratégias de orientação de crianças com diagnóstico pré-natal de uropatia malformativa.The aim of our study was to describe the characteristics and outcome of prenatal hydronephrosis confirmed postnatally to be primary vesico-ureteric reflux (VUR). Material and methods: we performed a retrospective review of the files of 322 patients with prenatal detection of urinary tract anomalies, followed between January 1992 and December 2002. Two hundred sixteen performed voiding cystourethrography (VCU) and 29 presented VUR (cases of VUR associated to infravesical obstruction, duplex systems or uretero-pelvic obstruction were excluded). The parameters analysed were: sex, frequency of urinary tract infection (UTI), ultrassound evolution, detection of renal scars through renal scintigraphy with DMSA and serial VCU. Results: Male infants predominated (4:1). The reflux was bilateral in 12 cases, so a total of 41 reflux units (RU) were considered. The postnatal ultrasound was normal in 14/41 cases. In boys the reflux was often severe (13/15 of the VUR grade IV and V were male) and associated with diffuse renal damage (10/11). However, fetal VUR revealed a relatively benign disorder in most cases: 26/41 was mild grade, 27/41 did not present renal damage and 11 showed total ( 8 cases with moderate VUR ansd 3 with high VUR) and 4 parcial spontaneous resolution. Conclusions: The majority of children with prenatal diagnose of VUR had a favorable evolution and only 20% needed a surgical approach. Boys presented a more serious VUR which was more often associated with diffuse renal lesion and needed special attention. The author's emphasided the need of larger cooperative studies in order to establish ther management of children with prenatal diagnosis of fetal uropathy.
- Atypical haemolytic-uraemic syndrome caused by factor H mutation: case report and new management strategies in childrenPublication . Araújo, L.; Faria, M.; Rocha, L.; Costa, T.; Barbot, J.; Mota, C.Atypical haemolytic uraemic syndrome is causedby alternative complement pathway dysregulation. It has recently been recognised that most cases are due to genetic factors and a growing list of mutations has been described. Atypical haemolytic uraemic syndrome is associated with a dismal prognosis, a relapsing course, high acute mortality and frequent progression to end-stage renal disease. We describe a five-year-old boy admitted with a first recurrence of atypical haemolytic uraemic syndrome. The primary onset of the disease was at 15 months of age, following which there was complete recovery of haematological and renal parameters. His family history was significant in that his mother had died at the age of only 23 years of a stroke with associated thrombotic microangiopathy, suggesting a familial form of the disease. Sequencing of the gene encoding complement factor H revealed a heterozygous SCR20 mutation (3644G>T, Arg1215Leu), confirming the diagnosis. The patient was successfully treated with fresh frozen plasma infusions that induced disease remission. We also review currently evolving concepts about atypical haemolytic uraemic syndrome caused by factor H mutation, its diagnosis, the role of genetic testing and management strategies in children.
- Nephrogenic diabetes insipidus associated with tenofovir administration: report of a paediatric casePublication . Costa, M.; Teixeira, C.; Costa, A.; Faria, M.; Mota, C.; Marques, L.Tenofovirrenal toxicity, particularly when associated with other antiretrovirals, has been reported in the adult HIV-positive population. Reports in HIVpositive children are very rare. The authors report a paediatric case of nephrotoxicity associated with tenofovir and didanosine, emtricitabine and lopinavirritonavir coadministration. A 12-year-old girl with AIDS (clinical stage C) with a multidrug-resistant virus and several treatment failures initiated emtricitabine, tenofovir, didanosine and lopinavir-ritonavir in 2008 with good tolerance. Her viral load became undetectable and CD4 count normal. Two years later she presented generalized weakness, polydipsia and polyuria. On physical examination dehydration was evident. Her vital signs were stable. She had lost 5% of her body weight in the previous week. Urinalysis revealed a urine gravity of 1000, osmolality 150 mOsm/Kg and no proteinuria or glucosuria. Blood analysis showed osmolality 289 mOsm/Kg, normal values of glucose, creatinine, urea, sodium, potassium, chloride and calcium. A water restriction test followed by desmopressin administration confirmed the diagnosis of nephrogenic diabetes insipidus. Tenofovir and didanosine were stopped and abacavir was added. The patient was treated with a thiazide diuretic and salt restriction. There was good clinical evolution and no relapses. This case highlights important possible side effects of tenofovir and emphasises the need for further studies into the renal safety of this agent in paediatric patients.
- Potential cardiovascular risk protection of bilirubin in end-stage renal disease patients under hemodialysisPublication . Sameiro-Faria, M.; Kohlova, M.; Ribeiro, S.; Rocha-Pereira, P.; Teixeira, L.; Nascimento, H.; Reis, F.; Miranda, V.; Bronze-da-Rocha, E.; Quintanilha, A.; Belo, L.; Costa, E.; Santos-Silva, A.We evaluated the potential cardiovascular risk protection of bilirubin in hemodialysis (HD) patients. An enlarged set of studies were evaluated in 191 HD patients, including hematological study, lipid profile, iron metabolism, nutritional, inflammatory markers, and dialysis adequacy. The TA duplication screening in the UDP-glucuronosyltransferase 1 A1 (UGT1A1) promoter region was also performed. The UGT1A1 genotype frequencies in HD patients were 49.2%, 42.4%, and 8.4% for 6/6, 6/7, and 7/7 genotypes, respectively. Although no difference was found in UGT1A1 genotype distribution between the three tertiles of bilirubin, significant differences were found with increasing bilirubin levels, namely, a decrease in platelet, leukocyte, and lymphocyte counts, transferrin, oxidized low-density lipoprotein (ox-LDL), ox-LDL/low-density lipoprotein cholesterol ratio, apolipoprotein (Apo) A, Apo B, and interleukin-6 serum levels and a significant increased concentration of hemoglobin, hematocrit, erythrocyte count, iron, transferrin saturation, Apo A/Apo B ratio, adiponectin, and paraoxonase 1 serum levels. After adjustment for age these results remained significant. Our data suggest that higher bilirubin levels are associated with beneficial effects in HD patients, by improving lipid profile and reducing the inflammatory grade, which might contribute to increase in iron availability. These results suggest a potential cardiovascular risk protection of bilirubin in HD patients
- Membranoproliferative glomerulonephritis and x-linked agammaglobulinemia: an uncommon associationPublication . Lavrador, V.; Correia, F.; Sampaio, R.; Candido, C.; Sameiro-Faria, M.; Marques, L.; Mota, C.Introduction. X-linked agammaglobulinemia (XLA) is a primary immunodeficiency characterized by agammaglobulinemia requiring replacement treatment with immunoglobulin. The association of XLA and membranoproliferative glomerulonephritis (MPGN) is unexpected and, to our knowledge, only one case was previously published. Case Report. The authors report the case of a 10-year-old boy with family history and prenatal diagnosis of XLA, treated from birth with intravenous immunoglobulin replacement therapy. He presented with pneumonia, macroscopic hematuria, nephrotic proteinuria, hypoalbuminemia, and hypercholesterolemia with normal renal function and serum complement levels. Renal histology showed immune complex mediated MPGN. He was started on high dose prednisolone and ramipril and switched to weekly subcutaneous immunoglobulin. After a 4-month treatment, hematuria and proteinuria significantly improved and prednisolone was gradually tapered without relapse. Conclusion. The pathogenic process underlying MPGN development in this patient is unknown but residual humoral immunity might play an important role. Thus, this case highlights the risk of autoimmune disorders among patients with XLA
- Effect of Aging in the Perception of Health-Related Quality of Life in End-Stage Renal Disease Patients under Online-HemodiafiltrationPublication . Moura, A.; Madureira, J.; Alija, P.; Fernandes, J.; Oliveira, J.; Lopez, M.; Filgueiras, M.; Amado, L.; Sameiro-Faria, M.; Miranda, V.; Santos-Silva, A.; Costa, E.This work aimed to evaluate how aging could influence patients’ perception of health quality of life (HRQOL), as well as, the effect of aging on dialysis adequacy and in hematological, iron status, inflammatory and nutritional markers. In this transversal study were enrolled 305 ESRD patients under Online-hemodiafiltration (OL-HDF) (59.67% males; 64.9 ± 14.3 years old). Data about comorbidities, hematological data, iron status, dialysis adequacy, nutritional and inflammatory markers were collected from patient’s records. Moreover, HRQOL score, by using the Kidney Disease Quality of Life-Short Form (KDQOL-SF), was assessed. Analyzing the results according to quartiles of age, significant differences were found for some parameters evaluated by the KDQOL-SF instrument, namely for work status, physical functioning and role-physical, which decreased with increasing age. We also found a higher proportion of diabetic patients, a decrease in creatinine, iron, albumin serum levels, transferrin saturation and nPCR, with increasing age. Moreover, significant negative correlations were found between age and mean cell hemoglobin concentration, iron, transferrin saturation, albumin, nPCR, work status, physical functioning and role-physical. In conclusion, our results showed that aging is associated with a decreased work status, physical functioning and role-physical, with a decreased dialysis adequacy, iron availability and nutritional status, and with an increased proportion of diabetic patients and of patients using central venous catheter, as the vascular access. The knowledge of these changes associated with aging, which have impact in the quality of life of the patients, could be useful in their management.
- Effect of Aging in the Perception of Health-Related Quality of Life in End-Stage Renal Disease Patients under Online-HemodiafiltrationPublication . Moura, A.; Madureira, J.; Alija, P.; Fernandes, J.; Oliveira, .; Lopez, M.; Filgueiras, M.; Amado, L.; Sameiro-Faria, M.; Miranda, V.; Santos-Silva, A.; Costa, E.This work aimed to evaluate how aging could influence patients' perception of health quality of life (HRQOL), as well as, the effect of aging on dialysis adequacy and in hematological, iron status, inflammatory and nutritional markers. In this transversal study were enrolled 305 ESRD patients under online-hemodiafiltration (OL-HDF) (59.67% males; 64.9 ± 14.3 years old). Data about comorbidities, hematological data, iron status, dialysis adequacy, nutritional and inflammatory markers were collected from patient's records. Moreover, HRQOL score, by using the Kidney Disease Quality of Life-Short Form (KDQOL-SF), was assessed. Analyzing the results according to quartiles of age, significant differences were found for some parameters evaluated by the KDQOL-SF instrument, namely for work status, physical functioning and role-physical, which decreased with increasing age. We also found a higher proportion of diabetic patients, a decrease in creatinine, iron, albumin serum levels, transferrin saturation and nPCR, with increasing age. Moreover, significant negative correlations were found between age and mean cell hemoglobin concentration, iron, transferrin saturation, albumin, nPCR, work status, physical functioning and role-physical. In conclusion, our results showed that aging is associated with a decreased work status, physical functioning and role-physical, with a decreased dialysis adequacy, iron availability and nutritional status, and with an increased proportion of diabetic patients and of patients using central venous catheter, as the vascular access. The knowledge of these changes associated with aging, which have impact in the quality of life of the patients, could be useful in their management.
- The Diagnosing Challenge of a Positive ANCA Vasculitis in the Paediatric AgePublication . Preto, C.; Silva, A.; Alves, S.; Guedes, M.; Matos, P.; Mota, C.; Rocha, P.; Fernandes, P.ANCA-positive systemic vasculitides, rare in paediatric age, present multiorganic involvement. A female teenager presented with a history of subglottic stenosis diagnosed at the age of 12. From the investigation carried out, we highlight hematoproteinuria and negative ANCAs. At 15 years old, she was admitted for gastrointestinal symptoms and respiratory distress. She presented poor peripheral perfusion, pulmonary haemorrhage, respiratory failure, and severe renal insufficiency. She was started mechanical ventilation and emergency haemodialysis. The immunological study revealed ANCA MPO positive. A presumptive diagnosis of ANCA-positive vasculitis was made, and she was started corticotherapy, cyclophosphamide, and plasmapheresis. A renal biopsy, performed later, showed crescentic glomerulonephritis with chronicity signs. Positive ANCA vasculitis may progress slowly or suddenly. The diagnosis was confirmed by a biopsy; however, we can make a presumptive diagnosis based on clinical findings and in a positive ANCA test in order to start an early treatment and decrease the associated morbimortality.
- Cross-cutting view of current challenges in paediatric solid organ and haematopoietic stem cell transplantation in Europe: the European Reference Network TransplantChildPublication . Jara, P.; Baker, A.; Baumann, U.; Borobia, A. M.; Branchereu, S.; Candusso, M.; Carcas, A. J.; Chardot, C.; Cobas, J.; D’Antiga, L.; Ferreras, C.; Fitzpatrick, E.; Frauca, E.; Hernández-Oliveros, F.; Kaliciński, P.; Lindemans, C.; Lopes, M. F.; López-Granados, E.; de Magnée, C.; Mota, C.; Muñoz, J. M.; Ojeda, J. J.; Pérez-Martínez, A.; Perilongo, G.; Rascon, J.; Sciveres, M.; Stone, R.; Tarutis, V.; Toporski, J.; Torres, J. M.; Wennberg, L.The low prevalence of European paediatric transplanted patients and scarcity of resources and expertise led to the need for a multidisciplinary network able to improve the quality of life of paediatric patients and families requiring a solid organ or haematopoietic stem cell transplantation. The European Reference Network (ERN) TransplantChild is one of the 24 ERNs established in a European legal framework to improve the care of patients with rare diseases. ERN TransplantChild is the only ERN focused on both solid organ and haematopoietic stem cell paediatric transplantation, based on the understanding of paediatric transplantation as a complex and highly specialised process where specific complications appear regardless the organ involved, thus linking the skills and knowledge of different organ disciplines. Gathering European centres of expertise in paediatric transplantation will give access to a correct and timely diagnosis, share expertise and knowledge and collect a critical mass of patients and data that increases the speed and value of clinical research outcomes. Therefore, the ERN TransplantChild aims for a paediatric Pan-European, Pan-transplant approach.