Browsing by Author "Mota, C."
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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.
- Cistinúria – Revisão da literatura e investigação das suas bases genéticas em 4 doentesPublication . Lopes, A.; Barbosa, M.; Mota, C.; Alves, S.; Martins, E.; Mota, M.C.; Quelhas, D.; Lacerda, L.; Cardoso, M.L.Introdução: Classicamente, e com base na apresentação fenotípica, os doentes com cistinúria classificavam-se em tipo I e tipo não I. Mais recentemente e com base nos aspectos genéticos da doença podemos identificar: o tipo A, causada por mutações no gene SLC3A1, o tipo B, causada por mutações no gene SLC7A9 Objectivos e metodologia: O objectivo deste trabalho foi rever o estado actual do conhecimento no que se refere ao diagnóstico, incidência/prevalência, classificação bioquímica, aspectos genéticos e tratamento desta patologia e caracterizar a nível molecular quatro casos com diagnóstico clínico e/ou bioquímico de cistinúria através da sequenciação dos genes SLC3A1 e SLC7A9. Resultados: No gene SLC3A1 foram detectadas cinco mutações, duas das quais são novas (c.1597T>A e c.611-2A>C) e três previamente descritas na literatura (c.647C>T; c.1190A>G e c.2019C>G). A sequenciação do gene SLC7A9 revelou a presença de uma mutação previamente descrita (c.614_615insA). Foi possível classificar três doentes tipo A (um homozigoto e dois heterozigotos compostos) e um doente como heterozigoto tipo B, o que está de acordo com a excreção urinária de cistina observada. Conclusões: A caracterização genotípica dos doentes cistinúricos contribui para o esclarecimento da patofisiologia da doença, permite efectuar a confirmação do diagnóstico clínico e bioquímicoe oferecer o aconselhamento genético aos familiares em risco. Os autores salientam a importância de uma abordagem multidisciplinar na estratégia de seguimento destes doentes. ABSTRACT Introduction: Classically, based on the phenotype, two types of cystinuria were identifi ed and classifi ed as type I and non-type I. More recently a new classification was proposed based on molecular genetics: cystinuria type A (caused by mutations on SLC3A1 gene), type B (involving mutations on SLC7A9 gene) and type AB if there is a digenic inheritance (SLC3A1 and SLC7A9). Objective and methodology: We reviewed the state of the art on the diagnosis, incidence/prevalence, biochemical classification, genetic data and treatment of cystinuria. Furthermore we characterized four patients with cystinuria at molecular level by sequencing SLC3A1 and SLC7A9 genes. Results: On SLC3A1 we detect five mutations, two of them (c.1597T>A and c.611-2A>C) are novel and three (c.647C>T; c.1190A>G and c.2019C>G) were been previously reported in literature. Sequencing of SLC7A9 gene showed one (c.614_615insA) previously published mutation. It was possible to classify three type A patients (one homozygote and two compound heterozygotes) and one patient as heterozygous type B, which is consistent with the observed urinary excretion of cystine. Conclusions: Genotypic characterization of patients with cystinuria contributes to the understanding of the pathophysiology, confirms the clinical and biochemical diagnosis and provides genetic counseling to relatives at risk. The authors underline the need of a multidisciplinary team approach in the follow-up of these patients.
- Coarctação da aorta – detecção tardiaPublication . Álvares, S.; Mota, C.; Carvalho, M.; Loureiro, M.As causas mais frequentes de hipertensão arterial na população pediátrica variam com a idade. No lactente e criança mais pequena é habitualmente secundária a doença cardíaca ou renal. No adolescente e criança mais velha, obesos e com história familiar de hipertensão, a etiologia mais frequente é a hipertensão essencial ou idiopática. Apresenta-se o caso clínico de uma adolescente de 12 anos, referenciada à consulta de Cardiologia Pediátrica para avaliação das repercussões cardíacas de hipertensão arterial de difícil controlo. A hipertensão arterial tinha sido detectada há dois anos e a investigação anterior não revelara causa secundária. De relevante ao exame físico apresentava obesidade, sopro sistólico de ejecção, com irradiação para o dorso, ausência de sopro abdominal, pulsos femorais diminuídos relativamente aos radiais e um gradiente de pressão arterial com diferencial de 50 mmHg entre os membros superiores e inferiores. O ecocardiograma transtorácico mostrou hipertrofia concêntrica ventricular esquerda; o estudo ecocardiografico supraesternal não foi conclusivo; detectou-se fluxo de coarctação da aorta a nível da aorta abdominal. A angiorressonância confirmou a existência de coarctação da aorta após a emergência da artéria subclávia esquerda tendo efectuado tratamento cirúrgico. Este caso é exemplo da importância de um exame físico completo na abordagem da criança com hipertensão arterial, nomeadamente a palpação dos pulsos periféricos e a avaliação da pressão arterial nos 4 membros. Perante a suspeita clínica de coarctação da aorta e um estudo ecocardiográfico/Doppler inadequado, salienta-se que os registos de Doppler pulsado a nível da aorta abdominal revelam informações valiosas relativamente à presença de coarctação. ABSTRACT The causes of arterial hypertension in the pediatric population are related to the age of the child. In the infant and younger children it is usually secondary to cardiac or renal diseases. For the adolescent with mild elevation of blood pressure, overweight and a strong family history of hypertension, primary or essential hypertension is most likely. We present a case report of a 12 year-old girl referred for cardiac evaluation in the setting of hypertension difficult to control. Diagnosis of hypertension was established at the age of ten and former investigation was inconclusive. On physical examination she presented a precordial systolic ejection murmur with irradiation to the back, no abdominal murmur, diminished and delayed pulses in the right femoral artery compared with the right radial artery and an arm-leg pressure gradient of 50 mmHg. Two D/Doppler Echocardiogram showed concentric LV hypertrophy, with no other structural cardiac malformations; Doppler investigation of the aorta from the suprasternal view was not conclusive. Pulsed wave Doppler recordings from the abdominal descending aorta showed a continuous antegrade flow signal, with no evidence of flow reversal or cessation. MR angiography located the coarctation just distal to the left subclavian artery. Surgical repair consisted in the subclavian flap aortoplasty procedure. Aortic coarctation is still a missed and late diagnosis. This case report is an examples of the importance of a complete physical examination in the presence of arterial hypertension in children, namely the palpation of radial and femural pulses and the leg-arm pressure gradient. In the presence of clinical suspicion of coarctation of the aorta, and in those patients with inadequate supraesternal notch echocardiography or Doppler examinations, pulsed Doppler recording from the abdominal descending aorta can supply valuable indications of the presence of a thoracic coarctation.
- 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.
- D-bifunctional protein deficiency – a cause of neonatal onset seizures and hypotoniaPublication . Nascimento, J.; Mota, C.; Lacerda, L.; Pacheco, S.; Chorão, R.; Martins, E.; Garrido, C.Background Peroxisomal disorders are classified in two major groups: (1) Peroxisome Biogenesis Disorders and (2) single Peroxisomal Enzyme/Transporter Deficiencies. D-bifunctional protein deficiency (DBP; OMIM #261515) included in this last group of rare diseases leads to an impaired peroxisomal beta-oxidation. D-bifunctional protein deficiencies are classified in four types based on the degree of activity of the 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase protein units. Case report/Result The authors present the first portuguese reported type II DBP deficiency patient, whose neonatal clinical picture is indistinguishable from a Zellweger spectrum disease. The clinical features and the neuroimaging findings of polymicrogyria raised suspicion of the diagnosis. After biochemical analysis, DBP deficiency was confirmed with the identification of p.Asn457Tyr (N457Y) mutation, present in homozygosity in HSD17B4 gene. Parents were found to be carriers of the mutated allele, confirming the patient homozygosity status and allowing prenatal diagnosis to future pregnancies. Conclusion D-bifunctional protein deficiency is a rare and severe disease and final diagnosis can only be accomplished after HSD17B4 gene sequencing. Treatment is generally of supportive nature, aimed at improving nutrition and growth, controlling the central nervous system symptoms and limiting the eventual progression of liver disease.
- Factores de risco cardiovascular: prevenção desde a infânciaPublication . Carmo, C.; Mota, C.; Pereira, E.A aterosclerose é uma doença sistémica, que permanece numa forma subclínica durante as primeiras décadas de vida. A sua prevenção faz-se desde a infância, com a modificação dos hábitos de vida e a identificação e tratamento dos factores de risco. Os autores abordam os diversos factores de risco vascular, caracterizando-os do ponto de vista epidemiológico e fisiopatológico, e definem as medidas preventivas a tomar na infância e na adolescência. Nos doentes pediátricos de alto risco, apresentam a estratificação do risco vascular em três grupos, e para cada grupo objectivos terapêuticos. ABSTRACT Atherosclerosis is a systemic disease which remains in a sub clinical form during the first decades of life. Its prevention begins in the early childhood with the promotion of healthy lifestyles and the identification and treatment of the risk factors. The authors present the different vascular risk factors describing its epidemiologic and physiopathologic characteristics and recommend the preventive measures for the infancy and adolescence. In the high risk paediatric patients they show the risk vascular stratification in three groups and for each its therapeutic endpoints.
- Genes, crianças e pediatras: defeito congénito da glicosilaçãoPublication . Bandeira, A.; Mota, C.; Quelhas, D.; Loureiro, M.; Martins, E.A 14 month-old boy presented with failure to thrive and severe mental and motor development delay. On physical examination he presented with severe axial hypotonia and dysmorphic syndrome: peculiar facies with small eyes, micrognathia, raised intermamilar distance. He also had multissistemic involvement with nephritic proteinuria, hypertrophy cardiomiopathy with pericardial effusion, raised transaminases, functional deficit of coagulation proteins and unspecific changes of retinal pigmentation. This case illustrates the typical presentation of congenital disorder of glycosilation (CDG) type Ia.
- Haemolytic uraemic syndrome, cardiomyopathy, cutaneous vasculopathy and anti-phospholipid activityPublication . Faria, M.; Mota, C.; Barbot, J.; Alvares, S.; Jardim, H.; Vilarinho, A.; Pereira, E.
- 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
- 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