We present two siblings with persistent proteinuria and normal kidney function, each carrying the same compound heterozygous variants in the gene. The -related phenotype appears to be dependent upon both variant type and the domain site within the gene. Knowledge of status may allow for avoidance of invasive testing.
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http://dx.doi.org/10.1002/ccr3.7502 | DOI Listing |
Euroasian J Hepatogastroenterol
December 2024
Department of Medical Oncology, Aga Khan University Hospital, Karachi, Sindh, Pakistan.
Unlabelled: Bevacizumab and atezolizumab combination is one of the preferred combinations for managing advanced hepatocellular carcinoma (HCC), while the evidence on monotherapy with either agent is not convincing. We present a case of a man in his 50s diagnosed with HCC with spinal metastases who showed a good response to combination therapy. However, he developed severe proteinuria and hypertension secondary to bevacizumab, which had to be discontinued after 18 cycles.
View Article and Find Full Text PDFPregnancy Hypertens
January 2025
Faculté des Sciences de Tunis, Université de Tunis El Manar, Tunis, Tunisia; Department of Biological Sciences, Brock University, St. Catharines, Canada. Electronic address:
Unlabelled: Preeclampsia (PE) is a pregnancy-specific vascular disorder associated with endothelial dysfunction, hypertension, and proteinuria. The methylenetetrahydrofolate reductase (MTHFR) enzyme regulates essential cellular functions in pregnancy owing to its effects on folate metabolism and DNA methylation. Previous studies implicated the association of rs1801133 (C677T; Ala222Val) and rs1801131 (A1298C; Glu429Ala) in the MTHFR gene with PE in different ethnic groups, but with mixed outcomes.
View Article and Find Full Text PDFCureus
December 2024
Nephrology, Unidade Local de Saúde de São José, Lisbon, PRT.
Immunoglobulin G4-related disease (IgG4-RD) and systemic lupus erythematosus (SLE) are multisystemic autoimmune disorders that can present with renal manifestations. Overlapping cases of these diseases are extremely rare and present both diagnostic and therapeutic challenges. We report the case of a 70-year-old male with a history of autoimmune pancreatitis, who was admitted with fatigue, weight loss, and worsening kidney function.
View Article and Find Full Text PDFNephrology (Carlton)
January 2025
Division of Nephrology, School of Clinical Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong, Hong Kong SAR.
Prevention of end-stage kidney disease (ESKD) is a major objective in the management of patients with lupus nephritis (LN). Chronic kidney disease (CKD) of variable severity is common in these patients, but recent literature has mostly focused on novel immunosuppressive treatments for acute LN, while the data on CKD is relatively limited. This scoping review aims to summarise available data on the prevalence and risk factors for CKD in patients with LN.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Dermatology, Venereology and Leprosy, AIIMS Rishikesh, Rishikesh, Uttarakhand, India
Paediatric Systemic lupus erythematosus (SLE) constitutes 10 to 20% of cases of SLE with more severe disease and higher mortality. We report a case of an adolescent girl with SLE with multisystem involvement who was started on hydroxychloroquine and oral prednisolone. However, due to persistent worsening of skin lesions and falling cell counts, pulsed dexamethasone was initiated which showed improvement in the skin lesions, cell counts, proteinuria and pleural effusion but there was a persistent fall in the haemoglobin.
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