CMIN_DIA_SNP_Artigos publicados em revistas não indexadas na Medline
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- 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.
- 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.