Publications by authors named "Conceição Mota"

12 Publications

  • Page 1 of 1

Granulomatosis with Polyangiitis in Adolescence: Two Distinct Presentations.

Case Rep Rheumatol 2021 19;2021:6642910. Epub 2021 Jun 19.

Unit of Pediatric Nephrology, Department of Pediatrics, Centro Materno-Infantil do Norte-Centro Hospitalar Universitário do Porto, Porto, Portugal.

. Granulomatosis with polyangiitis (GPA) is a rare disease in pediatric age. We report two cases with distinct presentations. . A seventeen-year-old male with prolonged febrile syndrome, cough, and constitutional symptoms. CT-scan showed cavitated lesions of the lung and bronchial biopsy a necrotizing inflammatory process. The remaining investigation revealed hematoproteinuria and positive C-ANCA and anti-PR3. Complications: Bilateral acute pulmonary thromboembolism, splenic infarction, and extensive popliteal and superficial femoral deep vein thrombosis. He was treated with corticosteroids, immunoglobulin, rituximab, and anticoagulation. Rituximab was maintained every six months during the first two years. Control angio-CT was performed with almost complete resolution of previous findings. In a twelve-year-old female with inflammatory signs of the limbs, investigation showed myositis of the thigh and tenosynovitis of the wrist, normocytic normochromic anemia (Hg 9.4 g/dL), mild elevation of inflammatory markers, and high creatine kinase. During hospitalization, she presented an extensive alveolar hemorrhage associated with severe anemia and positive C-ANCA and anti-PR3. Clinical deterioration prompted intravenous methylprednisolone pulses and plasmapheresis. Induction therapy with rituximab and prednisolone showed good results. Rituximab was maintained every six months, for 18 months, with gradual tapering of corticoids. . GPA is a systemic disease with variable clinical presentation and severity. Pediatric patients have similar clinical manifestations to adults but different frequencies of organ involvement; constitutional symptoms are also more common. We highlight the different presentation of these two cases, as well as the need for an individualized approach. Rituximab has been used for both induction-remission and maintenance therapy, with good results, particularly in young patients.
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June 2021

Genetic atypical hemolytic uremic syndrome in children: a 20-year experience from a tertiary center.

J Bras Nefrol 2021 May 12. Epub 2021 May 12.

Centro Hospitalar Universitário do Porto, Centro Materno-Infantil do Norte, Unidade de Nefrologia Pediátrica, Porto, Portugal.

Introduction: Atypical hemolytic uremic syndrome (aHUS) is a rare disorder characterized by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury, which primarily affects preschool-aged children. This study's aim was to describe the clinical profile, management, and long-term outcome of the genetic aHUS patients admitted to a tertiary care pediatric nephrology center during 20 years.

Methods: We performed a retrospective analysis of the clinical records of all aHUS patients younger than 18 years with identified genetic mutations. Data on clinical features, genetic study, therapeutic interventions, and long-term outcomes were reviewed.

Results: Five cases of aHUS with an identified genetic mutation were included; all were inaugural cases with the youngest being 4 months old. Complement factor H gene mutation was identified in four patients. Therapeutic plasma exchange was performed for acute management in 4 patients, one of whom also needed acute renal replacement therapy (peritoneal dialysis). All patients went on complete remission, 2 had more than one relapse but only 1 of these progressed to chronic kidney disease during the follow-up period (median (25th-75th percentile), 136 (43.5-200.5) months).

Conclusion: In children, the prognosis of renal function seems to be strongly dependent on the genetic background, thus being crucial to perform genetic study in all aHUS cases. In our cohort, 2 patients presented genetic mutations not previously described. Recent innovations on the genetic field leading to the identification of new mutations has lead to a better understanding of aHUS pathogenesis, but further studies, focusing on the genotype-phenotype correlation, with longer follow-up periods, are needed.
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May 2021

Renal Transplant in Pediatric Patients With Congenital Abnormalities of the Lower Urinary Tract.

Exp Clin Transplant 2021 Apr 19;19(4):310-315. Epub 2021 Feb 19.

From the Unit of Pediatric Nephrology of the Pediatric Department - Centro Materno-Infantil do Norte - Centro Hospitalar Universitário do Porto, Portugal.

Objectives: Congenital abnormalities of the lower urinary tract can result in end-stage renal disease and are responsible for a significant number of renal transplants. Management of these patients is not always consensual, and more evidence is required about the frequency of associated complications. Our aim was to report the experience of a Pediatric Renal Transplant Unit with renal transplant in pediatric patients with congenital abnormalities of the lower urinary tract.

Materials And Methods: Data on renal transplants performed in pediatric patients with congenital abnormalities of the lower urinary tract between January 1, 2009, and December 31, 2019, in this center were retrospectively reviewed.

Results: Fifty-three pediatric renal transplants were performed in the institution during the considered time period. Of these, 26 transplants were performed in 24 patients with congenital abnormalities of the lower urinary tract, and 14 were male. The median age at the time of renal transplant was 10.5 years (interquartile range, 5.25-15 years), and the most frequent diagnoses were neurogenic bladder (n = 7; 29%) and posterior urethral valve (n = 7; 29%). Three patients (13%) underwent preemptive renal transplant, 15 were on peritoneal dialysis (63%), and 6 were on hemodialysis (25%). A total of 81 pyelonephritides were diagnosed in the 24 patients, mostly attributed to Escherichia coli, followed by Klebsiella pneumonia. The median follow-up was 92.5 months (interquartile range, 52.3-114 months). For patients with congenital abnormalities of the lower urinary tract, graft survival was 92.3% at 1, 5, and 10 years, with no deaths reported.

Conclusions: Renal transplant is the treatment of choice for pediatric patients with end-stage renal disease. The procedure does not seem to be associated with worse patient outcomes. Additionally, despite the significant number of pyelonephritides cases, it does not seem to result in decreased graft or patient survival.
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April 2021

The Diagnosing Challenge of a Positive ANCA Vasculitis in the Paediatric Age.

Case Rep Pediatr 2017 19;2017:2962794. Epub 2017 Dec 19.

Paediatric and Neonatal Intensive Care Service, Centro Materno Infantil do Norte, Centro Hospitalar do Porto, Porto, Portugal.

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.
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December 2017

Successful management of a patient with a C3 Glomerulonephritis and crescentic pattern: a case report.

BMC Res Notes 2014 Nov 7;7:792. Epub 2014 Nov 7.

Department of Nephrology, Centro Hospitalar Algarve, Faro Hospital, Leão Penedo, 8000-386 Faro, Portugal.

Background: Crescentic glomerulonephritis is a rare condition in children and is typically associated with renal insufficiency. Dysfunction of the alternative complement pathway is an unusual aetiology with an unknown mechanism.

Case Presentation: We report a case of a previously healthy 12-year-old Caucasian girl who was examined on emergency owing to an asymptomatic gross haematuria. An active urinary sediment and nephrotic-range proteinuria were identified, and serologic examination showed a decreased serum C3 concentration not associated with any immunologic or infectious cause. Oedema, hypertension, and renal insufficiency were not observed. A renal biopsy was performed, and crescentic glomerulonephritis associated with C3 glomerulonephritis was diagnosed. Prompt treatment with intravenous steroids resulted in complete resolution of the gross haematuria. Further examination did not detect any underlying acquired cause. A combination of oral steroids and cyclophosphamide, followed by mycophenolate mofetil, was maintained and resulted in clinical remission during an 8-month follow-up.

Conclusion: The presence of severe injury such as crescentic glomerulonephritis secondary to C3 glomerulonephritis is extremely unusual in children. This is the first known case of paediatric crescentic glomerulonephritis secondary to C3 glomerulonephritis that presented with gross haematuria and was treated early and effectively with immunosuppressive therapy based on its severe histologic features.
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November 2014

Demographics of paediatric renal replacement therapy in Europe: a report of the ESPN/ERA-EDTA registry.

Pediatr Nephrol 2014 Dec 21;29(12):2403-10. Epub 2014 Jul 21.

Department of Medical Informatics, Academic Medical Center, Amsterdam, The Netherlands.

Background: The ESPN/ERA-EDTA Registry collects data on European children with end-stage renal disease receiving renal replacement therapy (RRT) who are listed on national and regional renal registries in Europe. In this paper we report on the analysis of demographic data collected from 2009 to 2011.

Methods: Data on primary renal disease, incidence, prevalence, 4-year survival, transplantation rate and causes of death in paediatric patients receiving RRT were extracted from the ESPN/ERA-EDTA Registry for 37 European countries.

Results: The incidence of RRT in paediatric patients in Europe during the study period was 5.5 cases per million age-related population (pmarp) in patients aged 0-14 years and varied markedly between countries (interquartile range 3.4-7.0 years). The prevalence of RRT was 27.9 pmarp and increased with age, with 67 % of prevalent patients living with a functioning graft. The probability of receiving a transplant within 4 years was 76.9 % and was lowest in patients aged 0-4 years (68.9 %). Mortality in paediatric patients treated with RRT was 55-fold higher than that of the general EU paediatric population. Overall survival at 4 years was 93.7 %, with the poorest survival in patients aged 0-4 years and in patients starting on dialysis. Infections (19.9 %) were the primary cause of death in European paediatric RRT patients.

Conclusion: Considerable variation exists in the current demographics of children treated with RRT across Europe.
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December 2014

Membranoproliferative glomerulonephritis and x-linked agammaglobulinemia: an uncommon association.

Case Rep Pediatr 2014 4;2014:480947. Epub 2014 Mar 4.

Pediatric Nephrology Department, Centro Hospitalar do Porto, Largo Professor Abel Salazar, 4099-001 Porto, Portugal.

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.
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April 2014

BK virus nephropathy complicated with meningoencephalitis after kidney transplantation.

Pediatr Transplant 2014 Mar 16;18(2):E48-51. Epub 2013 Dec 16.

Department of Pediatric Nephrology, Centro Hospitalar do Porto, Largo Professor Abel Salazar, Porto, Portugal.

BK disease is an opportunistic infection in organ transplant recipients and patients with other cellular immunodeficiencies. To the best of our knowledge, we report the second case of BK meningoencephalitis associated with nephropathy in a kidney transplant recipient. A 15-yr-old boy underwent a cadaveric kidney transplant without complications; however, 11 wk after the transplantation, he was admitted to the hospital for graft dysfunction and cytopenia, which were confirmed by BK nephropathy (plasma viral replication and histological evidence). Four days after his hospital admission, he developed a high-grade fever and headache. CSF analysis revealed pleocytosis with a positive PCR for BK virus. Reduction in immunosuppression and supportive care conducting cycles of immunoglobulin and cidofovir were successful in treating the patient. BK meningoencephalitis should be considered in kidney transplant recipients who present with signs and symptoms of meningoencephalitis.
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March 2014

How important it is to determine the blood pressure in paediatric patients?

BMJ Case Rep 2012 Jul 11;2012. Epub 2012 Jul 11.

Pediatrics Department, CHGE, Porto, Portugal.

The prevalence of hypertension among the paediatric population is 1%-2%. The emergency physician should recognise potentially harmful blood pressure (BP) levels and ensure they are adequately treated, in order to avoid life-threatening complications. A hypertensive emergency is a severely elevated BP complicated by target organ dysfunction (cardiovascular, cerebrovascular and/or renal). Hypertensive urgency, however, is a severe elevation in BP without target organ dysfunction. This distinction is critical for the clinical approach. The authors present a case of a severe hypertension due to primary focal segmental glomerulosclerosis. In this case, the lack of BP measurement in the infant surveillance and the devaluation of an albuminuria detected in a previous routine urine examination, have culminated in a late diagnosis of a severe hypertension, with subsequent effects on target organs.
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July 2012

Post-transplantation encapsulating peritoneal sclerosis in a pediatric patient.

Pediatr Nephrol 2012 Sep 24;27(9):1583-8. Epub 2012 Apr 24.

Nephrology Department, Hospital Maria Pia, Centro Hospitalar do Porto, Rua da Boavista, 4050-111, Porto, Portugal.

Background: Encapsulating peritoneal sclerosis (EPS) is a serious complication of long-term peritoneal dialysis (PD), but only a few cases have been described in the pediatric patient population. There is no established medical treatment, and surgery has been reported with variable success. The number of reports of EPS being successfully treated with tamoxifen, based on its anti-fibrotic effects, are increasing. The role of sirolimus, an mTOR inhibitor with immunomodulatory and anti-proliferative properties, has been less well-defined.

Case-diagnosis/treatment: A 17-year-old kidney transplant recipient, with a previous cumulative time on PD of 8 years and 3 months, developed severe bowel obstruction 8 months after undergoing a second kidney graft. Her immunosuppressive regimen consisted of tacrolimus, mycophenolate mofetil, and prednisolone. The patient underwent laparotomy, which revealed multiple thick leathery adhesions with an encapsulated small bowel. Enterolysis was performed, and total parenteral nutrition was commenced after surgery to provide an adequate food intake. Treatment with tamoxifen was initiated, but the patient developed significant liver toxicity 2 weeks later, and the drug was withdrawn. The immunosuppressive regimen was changed to an increased dose of prednisolone, and tacrolimus was replaced with sirolimos. At 20 months of follow-up, the patient remains symptom-free, with a functioning kidney transplant.

Conclusion: Although EPS is a very rare condition in the pediatric population, it should be considered when a child or adolescent with a long-term history of PD presents with nonspecific gastrointestinal symptoms or with signs of bowel obstruction. There is an urgent need for alternative immunosuppressive protocols. The use of sirolimus in this group of patients remains controversial.
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September 2012

Nineteen years of experience utilizing anti-T-Lymphocyte globulin induction in pediatric kidney transplantation.

Ann Transplant 2010 Oct-Dec;15(4):84-91

Department of Pediatric Nephrology, Centro Hospitalar do Porto, Porto, Portugal.

Background: The optimal immunosuppressive therapy in kidney transplantation remains controversial. Since 1990, we included, in our department, anti-T-Lymphocyte globulin Fresenius® (ATG-F) in a sequential immunosuppressive therapy in pediatric recipients of deceased donor kidneys. We analysed retrospectively the complications and long-term outcomes.

Material/methods: Ninety eight kidney transplants were performed in 91 children and adolescents between November 1990 and October 2009, using deceased donor source grafts. In 86.8% of the recipients ATG-F was used as antibody induction and in 12.2% of the recipients no ATG-F induction was used.

Results: Overall graft survival rates at 1, 5, 10 and 15 years were 91.8%, 86.1%, 75.9% and 61.9% respectively. In the ATG-F group the graft survival at 1, 5, 10 and 15 years was 93%, 89.1%, 79%, 62.4% and in group without ATG-F it was 83.3%, 66.7%, 55.6% at 1, 5, 10 years respectively (p=0.27). The overall incidence of infection was 1.6/patient in the first year post-transplantation and almost all were of mild or moderate intensity. A papillary thyroid carcinoma was diagnosed in one patient and no lymphoid malignancies were observed during the observational period. All patients were alive at the end of follow-up, except one who died of cardiovascular disease, 7 months after graft loss.

Conclusions: These results indicate that ATG-F induction in pediatric kidney transplantation using deceased donor kidneys is associated with good graft and patient survival rates, and with low levels of complications.
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April 2011

Determinants of eGFR at start of renal replacement therapy in paediatric patients.

Nephrol Dial Transplant 2010 Oct 15;25(10):3325-32. Epub 2010 Apr 15.

ESPN/ERA-EDTA Registry, Department of Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

Background: Few studies have investigated the determinants of glomerular filtration rate (GFR) in paediatric patients starting on dialysis or with a transplant.

Methods: Data were collected as part of the European Society of Paediatric Nephrology/European Renal Association-European Dialysis and Transplant Association registry from 14 European countries and referred to incident paediatric patients starting on renal replacement therapy (RRT) between 2002 and 2007 under the age of 18 years. Estimated glomerular filtration rate (eGFR) was calculated using the Schwartz formula. Data were adjusted for age, gender, treatment modality at start, primary cause of renal failure (PRD) and regions in Europe (eGFR(adj)).

Results: Median eGFR in the 938 patients starting RRT was 10.4 mL/min/1.73 m(2) (5th and 95th percentile: 4.0-26.9). Twenty-six patients (2.8%), mainly infants with Finnish-type nephropathy, started with eGFR levels >50 mL/min/1.73 m(2). Younger age, female gender, starting on dialysis and having a short time between the first visit to a paediatric nephrologist (PN) and start of RRT were associated with lower eGFR at start of RRT. Gender differences were only present during adolescent age and disappeared when using the same K value for both genders. The various PRDs showed large differences in the rate of decline in eGFR between the first visit to a PN and start of RRT; however, this did not result in differences in eGFR(adj) at start of RRT.

Conclusions: The main determinants of eGFR at start of RRT were age, gender, treatment modality at start, and the time between the first visit to a PN and start of RRT. Research is needed to determine the consequences of these differences.
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October 2010