3 documents found, page 1 of 1
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...
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...