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Collapsing glomerulopathy associated with parvovirus B19 and systemic lupus erythematosus in a patient with APOL1 high-risk variant for nephropathy.
J Bras Nefrol
January 2025
Universidade Federal de São Paulo, Departamento de Medicina, São Paulo, SP, Brazil.
Collapsing glomerulopathy (CG) has a severe course typically associated with viral infections, especially HIV and parvovirus B19, systemic lupus erythematosus (SLE), among other etiologies. A 35-year-old woman with recent use of a JAK inhibitor due to rheumatoid arthritis presented with a 2-week history of fever, cervical adenopathy, and facial erythema. After admission, anemia, hypoalbuminemia, proteinuria, and severe acute kidney injury were noted.
View Article and Find Full Text PDFAbdominal pain as a novel manifestation in children with PCDH19-related epilepsy: A case report.
Medicine (Baltimore)
January 2025
Department of Neonatal, Children's Hospital Affiliated to Shandong University/Jinan Children's Hospital, Jinan, Shandong, China.
Rationale: PCDH19-related epilepsy manifested various clinical features, including febrile epilepsy, with or without intellectual disability, and psych-behavioral disorders. However, there are few studies demonstrating abdominal pain as the first symptom.
Patient Concerns: A 3-year-old Chinese girl presented with clustered seizures of fever sensitivity accompanied by abdominal pain.
Concurrent Phenylketonuria and Pyogenic Sacroiliitis: A Case Report Highlighting Rare Co-Occurrence.
Int J Rheum Dis
January 2025
Division of Rheumatology, Department of Physical Medicine and Rehabilitation, Erciyes University School of Medicine, Kayseri, Turkey.
A 19-year-old male patient with phenylketonuria (PKU) was presented to our clinic with complaints of left hip pain and fever for one week. Physical examination and MRI examination showed findings compatible with pyogenic sacroiliitis and an abscess in the left iliopsoas muscle. The patient's clinical and radiological findings improved markedly with empirical antibiotic treatment.
View Article and Find Full Text PDFLiver Disease Complicating Familial Mediterranean Fever: A Study on 66 Patients Out of 533 Adult From the JIR Cohort.
Liver Int
February 2025
Sorbonne Université, Service Médecine Interne, Centre de référence des maladies autoinflammatoires et des amyloses (CEREMAIA), Assistance Publique des hôpitaux de Paris, Hôpital Tenon, Paris, France.
Background: Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease, associated with MEFV mutations. FMF patients can experience liver involvement, potentially leading to cirrhosis.
Objectives: This study aimed to evaluate liver involvement in FMF patients at a French tertiary centre for adult FMF.
Chronic active Epstein‒Barr virus colitis, a rare cause of recurrent diarrhea in an immunocompetent female: a case report.
BMC Infect Dis
January 2025
Center of Infectious Disease, West China Hospital, Sichuan University, Chengdu, China.
Background: Chronic active Epstein-Barr virus (CAEBV) colitis is a rare disease with clinical and endoscopic manifestations very similar to those of inflammatory bowel disease (IBD). In clinical practice, it is easy to be misdiagnosed and mistreated, leading to poor clinical outcomes.
Case Presentation: We report a case of a 56-year-old Chinese woman who presented with 6 years of intermittent severe diarrhea, fever, and abdominal pain.
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