Fabry disease is an X-linked lysosomal storage disease that leads to the intracellular accumulation of glycosphingolipids in many tissues and fluids, including the kidneys. We report a single family with Fabry disease that includes seven patients carrying the pathogenic variant c.797A>C in the GLA gene, with remarkable variability in kidney involvement, assessed based on clinical, biological, and histological data. The patients were monitored for 2-9 years, and all received enzyme replacement therapy. Kidney involvement was variable and included severely decreased GFR with significant proteinuria, mildly to moderately decreased GFR with proteinuria, mildly decreased GFR with microalbuminuria or normoalbuminuria, hyperfiltration with normoalbuminuria, and preserved kidney function. All patients who underwent kidney biopsy presented with Fabry-specific lesions and, in some cases, chronic histological damage. This study provides valuable insights into kidney involvement evaluated through kidney biopsy, personalized management strategies for family members according to their phenotype, and long-term follow-up of kidney function. We underscore the importance of molecular screening of the GLA gene in all family members for early identification of the disease and early initiation of specific treatments that can prevent or delay the progression of this disease.

Adults with sickle cell disease (SCD) experience fragmented access to primary and preventive care, which leads to poor adherence to general and SCD‑specific clinical practice guidelines. To address this gap, we implemented an embedded primary care model where a board‑certified internist/pediatric primary care provider (PCP) was embedded as a full member of the adult SCD care team, attending operational and educational meetings and practicing alongside hematologists in a comprehensive SCD clinic. Our primary aim was to test the hypothesis that an embedded primary care model was associated with improved guideline‑based preventive care and changes in acute healthcare utilization (e.g., emergency room visits and hospitalizations). We conducted a retrospective cohort study of adults with SCD seen at a single tertiary care center between July 2020 and June 2025. Of the 388 adults with SCD seen at the center, 174 received care from the embedded PCP. Patients in the embedded PCP model demonstrated significantly higher adherence to general preventive care including cervical cancer screening ((Odds Ratio) OR: 4.49; 95% (Confidence Interval) CI: 2.46, 8.23), depression screening (OR: 7.97; 95% CI: 1.78, 35.69), and diphtheria-tetanus-pertussis (Tdap) immunization (OR: 2.88; 95% CI:1.72, 4.84), and SCD‑specific guidelines, including annual eye examinations (OR: 2.59; 95% CI: 1.66, 4.04), pneumococcal immunization (OR: 3.58; 95% CI: 2.16, 5.92), urine protein screening (OR: 3.36; 95% CI: 1.89, 6.00), and ACE inhibitor/ARB use for microalbuminuria (OR: 9.37; 95% CI: 3.11, 28.23). Among patients who saw the embedded PCP, patients had significantly more annual outpatient visits (post-PCP: 4.2 vs pre-PCP: 2.7, p < 0.0001) and, while insignificant, fewer annual inpatient admissions (post-PCP: 1.4 vs pre-PCP: 1.9, p = 0.4869). Embedding a PCP within the adult SCD care team was associated with improved guideline‑based preventive care and more annual outpatient visits, which was consistent with more coordinated, outpatient‑focused management.

Post-bariatric hypoglycemia (PBH) is classically defined as venous glucose levels < 54 mg/dL accompanied by sympathetic or neuroglycopenic symptoms, with resolution after glucose correction (Whipple's triad), occurring in a typical post-surgical context (1-3 years after surgery, 2-4 h postprandially), after exclusion of other causes. Since 2015, studies using continuous glucose monitoring (CGM) have revealed a more complex glycemic profile following metabolic bariatric surgery (MBS) characterised by CGM-detected asymptomatic and nocturnal low interstitial glucose values, frequently occurring during prolonged intermeal periods, along with increased 24-h glycemic variability. Provocative tests are limited by non-physiological stimuli or poor standardisation. Meanwhile, although diagnostic workups for alternative etiologies not related to diabetes are recommended, these conditions are exceedingly rare compared with real-world CGM-detected events. Evidence from cohorts of individuals with diabetes links CGM metrics, such as nocturnal and prolonged intermeal low glucose exposure and glycemic variability, to adverse outcomes, including cardiovascular mortality, stroke, arrhythmias, next-day cognitive slowing, retinopathy, microalbuminuria, and arterial stiffness. These findings may support the potential prognostic relevance of similar phenotypes following MBS. We argue for: (1) a critical revision of diagnostic criteria, including standardised interstitial thresholds, event definitions, and the role of symptoms; and (2) prospective CGM cohorts of post-MBS patients without diabetes adequately sized to assess clinically meaningful endpoints, such as cardiovascular, microvascular, and cognitive outcomes. CGM has uncovered a likely blind spot in PBH, particularly asymptomatic and nocturnal hypoglycemia. Recognising this spectrum and aligning definitions, diagnostics, and care may improve outcomes.

Diabetic kidney disease (DKD) is a chronic microvascular complication of diabetes mellitus and a leading cause of chronic kidney disease worldwide. Microalbuminuria remains the current gold standard for the diagnosis and staging of DKD; however, it often reflects established renal injury rather than early pathological changes. Fatty acid-binding protein 1 (FABP1), a cytoplasmic protein abundantly expressed in the renal proximal tubules, is released into the urine in response to tubular damage. FABP1 plays an essential role in intracellular fatty acid transport and metabolism and may serve as a potential biomarker for tubular involvement in pediatric diabetic kidney disease. A case-control study was performed on 90 children (30 T1DM with DKD, 30 T1DM without DKD [non-DKD], and 30 controls). Albumin-creatinine ratio (ACR) and serum FABP1 were ELISA measured. FABP1 was significantly higher in the DKD group versus non-DKD (p = 0.026) and controls (p = 0.009). FABP1 positively correlated with ACR (r = 0.25, p = 0.018), total cholesterol (r = 0.25, p = 0.019), and LDL-C (r = 0.25, p = 0.017). A cutoff > 189 ng/L discriminated DKD from non-DKD (AUC = 0.67, sensitivity 63%, specificity 73%).Conclusion: Serum FABP1 may represent a complementary biomarker of tubular involvement in pediatric diabetic kidney disease.

To compare serum magnesium levels between patients with type 2 diabetes mellitus (T2DM) and age- and sex-matched non-diabetic controls, and evaluate the relationship between serum magnesium, β-cell function, glycaemic control, nephropathy, and peripheral arterial disease (PAD).