Atypical Wiskott-Aldrich syndrome presenting with normal platelet volume and end-stage renal disease: from misdiagnosis as ITP to combined transplantation.
We report a 30-year-old male with a novel WAS mutation (c.252C > A, p.F84L) who was misdiagnosed with immune thrombocytopenia (ITP) for years. Despite persistent thrombocytopenia, his mean platelet volume remained normal, an atypical feature of Wiskott-Aldrich syndrome (WAS). His course was complica…
Evaluation of clinicopathological features of renal biopsies in non-lupus rheumatic diseases: a university hospital experience.
Renal involvement is a common condition in rheumatologic diseases. The aim of this study was to evaluate the clinical presentations and histopathological results in patients diagnosed with non-lupus rheumatic diseases who underwent renal biopsy. The records of 900 renal biopsies performed at our hos…
The relationship between the non-high-density lipoprotein cholesterol to high-density lipoprotein cholesterol ratio and tubular atrophy/interstitial fibrosis in patients with IgA nephropathy.
Background: The tubular atrophy/interstitial fibrosis (T) lesions of the Oxford Classification is a key prognostic determinant in IgA nephropathy (IgAN). The non-high-density lipoprotein cholesterol to high-density lipoprotein cholesterol ratio (NHHR) is an emerging lipid marker, but its link with r…
While typically associated with benign infectious mononucleosis, Epstein-Barr virus (EBV) is now recognized as a pivotal driver of complex immunopathological disorders. By shuttling between lytic replication and strategic latency programs, EBV reprograms B-cell biology to evade immune surveillance a…
Ultrasensitive Immunoassay Using a Novel Galactose-Deficient IgA1 Antibody and Its Clinical Application in the Diagnosis of IgAN.
IgA nephropathy (IgAN) diagnosis remains dependent on invasive renal biopsy because currently available serologic biomarkers, including galactose-deficient IgA1 (Gd-IgA1), have limited diagnostic performance. This study aimed to develop and evaluate a high-sensitivity time-resolved fluorescence immu…
Characterization of Patient-Reported Loin Pain in IgAN.
Loin pain is a frequently reported symptom in IgA nephropathy (IgAN), but its significance is unclear. No known data exists regarding its prevalence, characteristics, or its impact on daily life, resulting in little support being offered for its management. A UK-wide mixed-methods study was conducte…
Circulating Antinephrin Antibodies in Adult Chinese Patients With IgAN and Nephrotic-Range Proteinuria.
Antinephrin autoantibodies are detectable in podocytopathies such as minimal change disease (MCD) and primary focal segmental glomerulosclerosis (FSGS); however, their prevalence and clinical relevance in IgA nephropathy (IgAN) with nephrotic-range proteinuria (NRP) and nephrotic syndrome (NS) are u…
Anti-CD20 Therapies and Antinephrin Autoantibodies in IgA Nephropathy With Minimal Change Disease.
In IgA nephropathy (IgAN) with minimal change disease (MCD) (MCD-IgAN), the efficacy of anti-CD20 monoclonal antibodies (mAbs) and the profile of antinephrin antibodies remain poorly understood. We evaluated the efficacy of anti-CD20 mAbs or combined short-course low-dose steroids (anti-CD20 mAbs gr…