13 documents found, page 1 of 2
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.
The urine as a diagnostic key for a homozygous EGFR mutation
Santos,Mafalda Casinhas; Almendra,Margarida; Bota,Sofia; Ramos,Helena; Francisco,TelmaABSTRACT Primary inherited epidermal growth factor receptor defects have recently been described in severe inflammatory skin disease and diarrhoea case reports. We describe two case reports of female preterm newborns of Roma consanguineous parents who presented both with alopecia and erythroderma/ichthyosis, in addition to nephromegaly at birth in case 1. Later, they both developed hypomagnesaemia and other sev...
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...
The Kidney Genetics Clinic: delivering precision medicine for kidney patients
Calado,Joaquim; Barata,Rui; Lucas,Rita; Francisco,Telma; Gonçalves,Rui; Ribeiro,Nuno Carrilho; Nolasco,FernandoABSTRACT Molecular genetic testing in human traits has traditionally relied on affiliated academic facilities, been focused on specific phenotypes and supported by research funding. We report the experience of the Kidney Genetics Clinic (“consulta de Doenças Renais Hereditárias”) for the past 5 years, a period during which we have outsourced genetic testing. We evaluated the impact of molecular testing in patie...
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...
Fanconi syndrome after Ifosfamide exposure - case report
Gomes,Sónia M; Garcia,Ana M; Francisco,Telma; Teixeira,Gilda; Ribeiro,Maria J; Serrão,Ana PIfosfamide is an antineoplastic drug widely used in the treatment of paediatric malignancies. However, in up to 50% of patients, it is associated with nephrotoxicity ranging from asymptomatic tubulopathy to overt renal failure. A two-year-old Caucasian boy was diagnosed with stage IV Burkitt lymphoma, with hepatic and renal and bone marrow involvement. Baseline evaluation showed GFR of 60 mL/min/1.73 m2. He sta...
Nephronophthisis, a pediatric challenge
Garcia,Ana M; Gomes,Sónia M; Francisco,Telma; Serrão,Ana PNephronophthisis is an autosomal recessive cystic kidney disease characterized by reduced concentrating ability of the kidney, chronic tubulointerstitial nephritis, cystic renal disease and progression to end-stage renal disease. In 10-20% of cases it is associated with a variety of other ciliopathy phenotypes. A 10-year-old caucasian female patient presented to our hospital with a history of uncontrolled vomit...
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 ...