Functional and histopathologic correlation in the fabry nephropathy with N215S genotype.

Rationale & Objective: Late-onset Anderson-Fabry disease appears in adulthood, usually with prevalent cardiac involvement. The N215S (p.Asn215Ser) missense mutation represents the most frequent late-onset variant in European countries.

Machine Learning for Monoclonal Gammopathies of Renal Significance Risk Stratification Using Clinical and Pathology Data.

Introduction: The prompt detection of monoclonal gammopathies of renal significance (MGRS) is clinically relevant for the initiation of chemotherapy. Although clinical and laboratory data can suggest the presence of MGRS, renal biopsy still represents the gold standard, despite not always being performed or eventually postponed because it is not deemed useful or informative. In this retrospective study, machine learning (ML) is used to build a tool to assist the prebiopsy risk stratification of MGRS and reinforce the rationale for the histological examination.

Ketogenic diet as rescue therapy to access transplantation in obese and advanced stage IV-CKD patients: a case report and literature review.

Kidney transplantation represents the best therapy for kidney failure, but obesity can limit access to this therapeutic option. Therapeutic strategies, such as diet or bariatric surgery, should be considered for obese patients with kidney failure. Unfortunately, there are no guidelines available to manage obesity in Chronic Kidney Disease (CKD).

The Role of Kidney Biopsy in Fabry Disease.

Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to α-galactosidase A deficiency and subsequent accumulation of glycosphingolipids, including globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3), in multiple organs. This accumulation can result in multisystemic disease and life-threatening complications. FD presents with a broad phenotypic spectrum, ranging from the classic form, with early and severe symptoms, to a later-onset form with variable manifestations.

The Fabry Nephropathy in Patients with N215S Variant.

Background: Fabry disease (FD) is a rare, X-linked lysosomal storage disorder that affects both males and females. It is caused by pathogenic variants in the gene that encodes the enzyme α-galactosidase A, GLA. The classic form of the disease begins in childhood, presenting with a range of signs and symptoms that can lead to severe complications such as stroke, as well as cardiac and renal failure.

Exploring parvovirus B19 pathogenesis and therapy among kidney transplant recipients: case report and review of literature.

We report the case of a 34-year-old male recipient of an ABO-incompatible living donor kidney transplant who was repeatedly hospitalised for anaemia. Acute kidney injury in a patient with severe and recurrent anaemia related to parvovirus B19 infection was diagnosed through viral and histopathological analysis. In view of the patient's impaired immune response due to the immunosuppressive regimen, clinical stabilisation was reached by repeated intravenous immunoglobulin administration as a maintenance therapy in a prolonged course, although viral clearance did not occur.

The importance of a multidisciplinary approach in two tricky cases: the perfect match for Fabry disease.

Anderson-Fabry disease (AFD) is a multisystem X-linked lysosomal storage disorder caused by a deficiency in the enzyme α-galactosidase A (α-Gal A). This deficiency results in the intracellular accumulation of glycosphingolipids, primarily uncleaved globotriaosylceramide (Gb3) and its deacylated form, lyso-globotriaosylceramide (Lyso-Gb3), leading to progressive organ damage and functional impairment. The diagnostic evaluation for AFD involves clinical assessment and family history, supported by biochemical testing (α-Gal A enzyme activity and Lyso-Gb3 levels) and genetic analysis of the GLA gene.

How histopathological diagnosis interacts with kidney ultrasound parameters and glomerular filtration rate.

The evaluation of estimated GFR (eGFR) is a pivotal staging step in patients with chronic kidney disease (CKD), and renal ultrasound plays an important role in diagnosis, prognosis and progression of CKD. The interaction between histopathological diagnosis and ultrasound parameters in eGFR determination has not been fully investigated yet. The study examined the results of native kidney biopsies performed in 48 Italian centers between 2012 and 2020.

"Eculizumab First" in the Management of Posttransplant Thrombotic Microangiopathy.

Introduction: Posttransplant thrombotic microangiopathy (PT-TMA) is an uncommon event that characterizes approximately 3% to 14% of kidney transplants (KTs), and that is associated with a higher risk of delayed graft function and graft loss. PT-TMA occurs more frequently within the first 3 months after transplant and can be a manifestation of disease or the recurrence of previous atypical hemolytic uremic syndrome (aHUS). Abnormalities in complement regulation genes could explain the increased susceptibility of some patients to PT-TMA.

DNAJB11 Mutation in ADPKD Patients: Clinical Characteristics in a Monocentric Cohort.

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a late-onset cilia-related disorder, characterized by progressive cystic enlargement of the kidneys. It is genetically heterogeneous with and pathogenic variants identified in approximately 78% and 15% of families, respectively. More recently, additional ADPKD genes, such as , have been identified and included in the diagnostic routine test for renal cystic diseases.

Caveolin-1 in situ expression in glomerular and peritubular capillaries as a marker of ultrastructural progression and severity of renal thrombotic microangiopathy.

Background: Thrombotic microangiopathy is a severe and potentially life-threatening condition inducing severe endothelial injury in many organs, particularly native and transplanted kidneys. Current pathological studies by our group have identified the use of Caveolin-1 immunohistochemistry as a potential marker of endothelial damage and progression degree of thrombotic microangiopathy. The aim of the present work was to evaluate Caveolin-1 as a marker of severity in thrombotic microangiopathy kidney disease, according to the ultrastructural progression of the disease evaluated by transmission electron microscopy.

Acute myeloma kidney and SARS-COV2 infection with dialysis need: never say never - a case report.

Background: Older individuals with multiple comorbidities and especially patients with multiple myeloma are at higher risk of contracting SARS-CoV-2. When patients with multiple myeloma (MM) are also affected by SARS-CoV-2 the time to start immunosuppressants is still a clinical dilemma especially when urgent hemodialysis is required for acute kidney injury (AKI).

Case Presentation: We present a case of an 80-year-old woman who was diagnosed with AKI in MM.

Patterns of renal toxicity from the combination of pemetrexed and pembrolizumab for advanced nonsquamous non-small-cell lung cancer (NSCLC): A single-center experience.

Objectives: The combination of immune-checkpoint inhibitors (ICI) and platinum-pemetrexed chemotherapy (CT) in first-line setting improved survival outcomes of advanced non-small cell lung cancer (NSCLC) patients. Among the various adverse events, renal toxicity can be a relevant safety issue.

Materials And Methods: We conducted a single-center, observational retrospective study including consecutive patients treated with upfront CT-ICI for advanced nonsquamous NSCLC to investigate incidence and clinical characteristics of acute kidney injury (AKI) using 'Acute Kidney Injury Working Group of Kidney Disease: Improving Global Outcomes' (KDIGO) definition.

Double glomerulopathies or two-faced janus? A challenging case in the COVID-19 era.

SARS-CoV-2 very often causes kidney involvement through various mechanisms including: acute tubular injury, virus cell invasion, vascular damage due to hypercoagulability and finally dysregulation of the immune system. Even though there are no pathognomonic morphologic features that can rule out or confirm direct damage by SARS-CoV-2, the latest literature suggests that there may be some association. SARS-CoV-2 infection represents a poor prognostic factor, regardless of pulmonary involvement.

Sickle Cell Trait and SARS-CoV-2-Induced Rhabdomyolysis: A Case Report.

BACKGROUND Rhabdomyolysis is a syndrome characterized by muscle necrosis and the subsequent release of intracellular muscle constituents into the bloodstream. Although the specific cause is frequently evident from the history or from the immediate events, such as a trauma, extraordinary physical exertion, or a recent infection, sometimes there are hidden risk factors that have to be identified. For instance, individuals with sickle cell trait (SCT) have been reported to be at increased risk for rare conditions, including rhabdomyolysis.

Rituximab Followed by Belimumab Controls Severe Lupus Nephritis and Bullous Pemphigoid in Systemic Lupus Erythematosus Refractory to Several Combination Therapies.

Systemic lupus erythematosus (SLE) and bullous pemphigoid (BP) are chronic autoimmune diseases in which B cells play an important pathogenic role in the different stages of the disease. B cell-targeted therapies have been suggested as a new rational approach for treating SLE. Rituximab (RTX), an anti-CD20 chimeric monoclonal antibody, failed to achieve primary endpoints in two clinical trials (EXPLORER and LUNAR) despite multiple observational and retrospective studies showing its beneficial effect on SLE.

Deterioration in Clinical Status Is Not Enough to Suspend Eculizumab: A Genetic Complement-Mediated Atypical Hemolytic Uremic Syndrome Case Report.

Background: Atypical hemolytic uremic syndrome (aHUS) is characterized by microangiopathic hemolytic anemia, thrombocytopenia, and renal failure. Mutations in CFI gene coding for complement regulation factors and in THBD gene coding for endothelial cell receptor thrombomodulin could predispose to the disease and hypertension can trigger the onset.

Case Presentation: A 51-year-old female patient who had received kidney transplant eighteen years ago presented with hypertensive peak and hemolysis pattern.

Inhibition of heparanase protects against chronic kidney dysfunction following ischemia/reperfusion injury.

Renal ischemia/reperfusion (I/R) injury occurs in patients undergoing renal transplantation and with acute kidney injury and is responsible for the development of chronic allograft dysfunction as characterized by parenchymal alteration and fibrosis. Heparanase (HPSE), an endoglycosidase that regulates EMT and macrophage polarization, is an active player in the biological response triggered by ischemia/reperfusion (I/R) injury. I/R was induced by clamping left renal artery for 30 min in wt C57BL/6J mice.