8 documents found, page 1 of 1
Primary Hyperoxaluria Type 1: The First Patient Treated with Lumasiran in Portugal
Borges,Madalena Almeida; Martins,João; Dias,Joana Monteiro; Fonseca,Nuno Moreira; Francisco,Telma; Abranches,MargaridaABSTRACT Primary hyperoxaluria type 1 is a rare genetic disease caused by mutations in AGXT, leading to an excessive hepatic production of oxalate, resulting in urolithiasis, nephrocalcinosis and chronic kidney disease. The authors present the case of a young female with PH1 who is the first patient treated with lumasiran in Portugal, and currently has a follow-up of 18 months.
Influenza B-Associated Atypical Hemolytic Uremic Syndrome
Mano,Lia; Francisco,Telma; Gaspar,Joana; Pereira,Gabriela; Santos,Raquel; Abranches,MargaridaABSTRACT Hemolytic uremic syndrome (HUS) triggered by influenza virus (iHUS) is rare. Influenza A infections have been described to trigger atypical HUS (aHUS) in individuals with an underlying genetic complement dysregulation. To date there are only few reports of Influenza B as a trigger of aHUS, all identified cases associated with mutations in the MCP or C3 gene, occasionally combined with other mutations. ...
X-linked hypophosphatemic rickets: a new mutation
Maio,Patrícia; Mano,Lia; Rocha,Sara; Baptista,Rute Baeta; Francisco,Telma; Sousa,Helena; Freixo,João Parente; Abranches,MargaridaAbstract Phosphopenic rickets may be caused by mutations in the PHEX gene (phosphate regulating endopeptidase homolog X-linked). Presently, more than 500 mutations in the PHEX gene have been found to cause hypophosphatemic rickets. The authors report a clinical case of a 4-year-old girl with unremarkable family history, who presented with failure to thrive and bowing of the legs. Laboratory tests showed hypopho...
Primary hyperoxaluria type 1 - two case reports
Ganhão,Inês; Borges,Catarina; Amorim,Marta; Braga da Cruz,Marisa; Nobre,Susana; Francisco,Telma; Cardoso,Dinorah; Abranches,MargaridaBackground: Primary hyperoxaluria type 1 is a rare autosomal recessive inherited disease, caused by mutations in AGXT gene, with an estimated incidence of 1:100.000 live births per year in Europe. Over 50% present with end stage renal disease at diagnosis. Case reports: The first case is a 14-year-old boy, second child to consanguineous parents, with history of recurrent lithiasis and ureteral dilatation starti...
Nephrocalcinosis in a portuguese pediatric population
Bota,Sofia; Andrade,Joana V; Francisco,Telma; Santos,Raquel; Neto,Gisela; Abranches,MargaridaIntroduction and Aims: Nephrocalcinosis is characterized by the deposition of calcium in the kidney parenchyma and tubules. The renal prognosis depends on the underlying cause, emphasizing the importance of its identification. We aim to review the data of children with nephrocalcinosis concerning etiology, clinical manifestations, growth and renal function at presentation and outcomes. Methods: Retrospective st...
Coexistence of pheochromocytoma and renal artery stenosis in a pediatric patien...
Serras,Inês; Baptista,Rute Baeta; Francisco,Telma; Casimiro,Anaxore; Lito,David; Alves,Rui; Abranches,MargaridaPheochromocytoma and renal artery stenosis are surgically treatable causes of hypertension. Although rare, the coexistence of pheochromocytoma and renal artery stenosis has been described in case reports. Common pathophysiological mechanisms other than extrinsic compression may be involved in this association, such as catecholamine-induced vasospasm. The early recognition of the association of pheochromocytoma ...
Nephrolithiasis in a portuguese pediatric population
Andrade,Joana V; Bota,Sofia; Francisco,Telma; Santos,Raquel; Neto,Gisela; Abranches,MargaridaIntroduction and Aims: Nephrolithiasis incidence in children has increased considerably. It is associated with substantial morbidity, recurrence and increased adulthood cardiovascular risk and chronic kidney disease. A thorough investigation is essential, as rare forms of urolithiasis have increased risk of renal failure. We aim to determine the epidemiology and outcomes of a pediatric population with nephrolit...
Distal renal tubular acidosis and sensorineural deafness with mutation in the A...
Periquito,Isabel; Casimiro,Anaxore; Santo,Catarina E.; DElia,Cláudio; Abranches,Margarida; Castro,IsabelDistal renal tubular acidosis is a rare disorder characterized by the inability in acidification of urine, conditioning hyperchloraemic acidosis, hypokalaemia, hypercalciuria and nephrocalcinosis, which can cause growth retardation, abnormal bone metabolism and, when untreated, chronic renal failure. Distal renal tubular acidosis and sensorineural deafness is an autosomal recessive disease caused by mutations i...