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Clinical Presentation and Treatment of Childhood-Onset Lupus Nephritis
Silva,Rita M.; Correia,Ana L.; Marques,Maria G.; Cordinhã,Carolina; Romãozinho,Catarina; Oliveira,Nuno A.; Carmo,Carmen do; Gomes,Clara; Alves,RuiAbstract Introduction: Lupus nephritis (LN) in childhood usually presents after the age of 10 years and is more common in female children. Despite the availability of effective immunosuppressive therapies, treatment response in childhood‑onset LN remains suboptimal, with 50% to 78% patients in full remission at 24 months. Improvement in survivals have also plateaued in past decades, and up to 9% and 14% of chil...
Multicystic Dysplastic Kidney: What Changed in Three Decades?
Magalhães,Diana Raquel Mota Almeida; Machado,Marta; Neves,Catarina; Cordinhã,Carolina; Carmo,Carmen; Gomes,ClaraAbstract Introduction: Multicystic dysplastic kidney (MCDK) is a severe form of cystic renal dysplasia that typically exhibits a favorable natural history. Though complications are low, systematic follow‑up is needed. Methods: Retrospective analysis covering children diagnosed with MCDK, undergoing follow‑up in a tertiary pediatric nephrology unit, from January/2011‑December/2023. Variables assessed included de...
Cystic Kidney Disease: An Early Manifestation of a Rare Syndrome
Leuzinger‑Dias,Catarina; Ramos,Joana P.; Machado,Marta; Cordinhã,Carolina; Carmo,Carmen do; Gomes,ClaraAbstract Pediatric cystic kidney diseases include a diversity of hereditary or non‑hereditary conditions, whose phenotypic presentation can vary from asymptomatic to end‑stage renal disease. We report a case of a male with a prenatal diagnosis of pyelectasis. Throughout the first two years of life, serial renal ultrasound showed regression of pyelectasis, but increased renal echogenicity, first identified at th...
A Rare Cause of Seizures: Hypomagnesemia Type 1
Gameiro,Inês; Silva,Catarina Pinto; Machado,Marta; Cordinhã,Carolina; Carmo,Carmen do; Gomes,ClaraABSTRACT Hypomagnesemia type I is a rare autosomal recessive disorder characterized by severe hypomagnesemia, often accompanied by hypocalcemia. This disease is caused by mutations in the TRPM6 gene (which encodes the respective channel), leading to reduced intestinal absorption of magnesium and increased renal excretion due to a defect in reabsorption in the distal convoluted tubule. It usually manifests itsel...
IgA vasculitis (Henoch-Schönlein purpura) nephritis and psoriasis in a child: i...
Vaz,Ana Sofia; Penteado,Raquel; Cordinhã,Carolina; Carmo,Carmen; Gomes,ClaraAbstract Background Psoriasis is a chronic immune-mediated disorder that primarily affects the skin in both adults and children but can also have systemic involvement, particularly with arthritis and kidney injury. IgA nephropathy is the most frequent kidney disorder associated with psoriasis. Approximately one third of all cases of psoriasis begin in childhood, but association between psoriasis and renal disor...
Cerebral Venous Sinus Thrombosis in a Child with Idiopathic Nephrotic Syndrome:...
Silva,Ana Isabel Rodrigues; Tavares,João; Vaz,Ana Sofia; Brito,Nádia; Vasconcelos,Mónica; Sevivas,Teresa; Moura,Lurdes; Cordinhã,CarolinaABSTRACT Complications are rare in pediatric cases of idiopathic nephrotic syndrome (NS). Thromboembolism ranks among the most uncommon and difficult complications to diagnose, particularly in the first episode of NS, since clinical signs might be unspecific. This report describes the case of a 5-year-old girl with NS for the first time presenting with severe hypoalbuminemia (< 2g/dL). The patient responded poo...
Hereditary hypophosphataemic rickets: experience from a paediatric nephrology unit
Caetano,Joana S.; Cordinhã,Carolina; Gomes,Clara; Correia,António J.Introduction. Rickets is a paediatric disease which should be suspected in children presenting with failure to thrive, motor developmental delay and orthopaedic abnormalities. Although rare, hereditary hypophosphataemic rickets is the most common form of heritable rickets. Patients and Methods. Retrospective observational study of all children with hypophosphataemic rickets observed at a paediatric nephrology u...