Case Reports in Nephrology and Dialysis最新文献

Introduction: Monoclonal gammopathy of undetermined significance (MGUS) is the most common plasma cell dyscrasia, defined by clonal monoclonal immunoglobulin (MIg) in serum and/or urine in the absence of end-organ damage caused by plasma cell proliferation. By contrast, monoclonal gammopathy of renal significance (MGRS) encompasses a spectrum of kidney disorders directly or indirectly driven by MIg, with clinical phenotypes ranging from insidious proteinuria to rapidly progressive glomerulonephritis. The diagnostic ambiguity arising when MGUS coexists with renal dysfunction remains a major clinical challenge. Here, we report a rare case of a patient initially suspected to have MGRS complicated by pauci-immune crescentic glomerulonephritis (PICGN). However, this diagnosis was ultimately excluded by the absence of MIg deposits in renal tissue on histopathological examination.

Case presentation: We describe a female with concurrent PICGN and MGUS, presented with acute kidney injury, proteinuria, and hematuria, with renal biopsy revealing type III crescentic glomerulonephritis and immunofluorescence showing weak positivity for κ and λ MIg deposits. Despite initial suspicion of MGRS, immuno-electron microscopy did not confirm monoclonal light chain deposition, leading to a final diagnosis of PICGN and MGUS.

Conclusions: This case underscores the importance of integrating serological, histopathological, and advanced imaging techniques to distinguish between autoimmune and plasma cell dyscrasias in renal pathology. It also emphasizes the limitations of immunofluorescence alone in diagnosing MGRS and the necessity of immuno-electron microscopy for definitive exclusion. This report calls for further research into the pathophysiological interactions between ANCA-associated vasculitis and monoclonal gammopathies, particularly in cases with overlapping renal injury features.

Introduction: Latex allergy is a leading cause of perioperative anaphylaxis, yet the risk of graft-mediated exposure during solid organ transplantation is poorly characterised.

Case presentation: We report the case of a 45-year-old man with end-stage renal disease and confirmed latex allergy who underwent kidney transplantation with a graft that had been handled with latex gloves during procurement. Following multidisciplinary discussion, the graft was repeatedly rinsed with preservation solution to reduce antigenic load. The operating theatre was prepared as latex-free, and the anaesthesia team implemented enhanced readiness for anaphylaxis. The surgery and perioperative course were uneventful, and the patient was extubated in theatre and transferred to intensive care without complication.

Conclusion: This case underscores the potential for graft-mediated anaphylaxis due to latex contamination during procurement. Systematic latex avoidance from organ retrieval to implantation, along with communication between procurement and implant teams, is crucial to mitigate risk in sensitised recipients.

Introduction: Dent disease (DD) is an X-linked recessive renal disorder characterized by features of incomplete Fanconi syndrome. DD varies in clinical presentation, manifesting with proteinuria alone or in combination with nephrocalcinosis/nephrolithiasis, and with or without chronic kidney disease, posing a challenge to clinical diagnosis. The genetic basis of DD is not completely known; about 25-35% of DD cases lack mutations in the disease-causing CLCN5 and OCRL genes. This case report represents a rare example of a patient initially suspected of having DD, but through whole exome sequencing (WES) was found to harbor pathogenic variants in the WT1 and EVC2 genes, suggesting a dual-genetic etiology mimicking DD.

Case presentation: We describe a young man with a renal phenotype resembling DD associated with nephrotic syndrome, focal segmental glomerulosclerosis (FSGS), tubular microcysts, and a significant family history of kidney disease. Also present was an extrarenal phenotype with short stature, narrow chest, recurrent upper respiratory tract infections, teeth anomalies and hypertension. We identified in the WT1 gene the heterozygous ultrarare missense variant (NM_024426.6:c.1088C>T p.Thr363Met), classified as a variant of uncertain significance, and in the EVC2 gene the heterozygous nonsense variant (NM_147127.5:c.2833C>T p.Arg945Ter), classified as pathogenic. The clinical phenotype combines WT1-related FSGS with a rare tubular phenotype of Ellis-van Creveld-like syndrome (EVC).

Conclusions: This case report provides insights into the phenotypic complexity of hereditary nephropathies and the diagnostic challenge posed by overlapping glomerular and tubular presentations. WES enabled us to expand our knowledge of the genetics of kidney diseases in adults and to reclassify the patient's nephropathy.

Introduction: This case illustrates the challenges in the diagnosis of a rare disease with an intricate orientation. The definitive genetic diagnosis was carried out after establishing crucial correlations between the preliminary clinical indications and the laboratory findings.

Case presentation: The initial presentation was myoclonic jerks. This was a direct consequence of hyperinsulinaemic hypoglycaemia (HH), and not a phenotypic characteristic described in previous case reports. Linking this to glycaemia led to the evaluation of response to fasting, where inadequate insulin suppression resulted in hypoketotic hypoglycaemia. The diagnosis of chronic kidney dysfunction associated with atypical Fanconi renal tubulopathy syndrome type 4 (FRTS4) was indicated on the basis of a decreased estimated glomerular filtration rate, nephrocalcinosis, millimetric lithiasis, rickets, and complex proximal tubulopathy. This indicated atypical FRTS4 as associated with HH and necessitated further molecular genetic testing.

Conclusion: The patient was identified as a carrier of the c.187C>T (p.Arg63Trp) variant in the HNF4A gene, which is a heterozygous missense variant classified as pathogenic. This entity is rare, and the published literature reporting HNF4A gene variants associated with atypical FRTS and HH is limited. It is therefore important to report such cases to contribute to the growing body of evidence and help identify pathogenic HNF4A variants and their implications.

Introduction: Managing pregnancy in patients with end-stage kidney disease (ESKD) undergoing dialysis is challenging, with hypoalbuminemia significantly increasing risks to both maternal and neonatal outcomes. Intensive hemodialysis regimens are recommended; however, individualized and adaptive dialysis strategies, such as sequential online hemodiafiltration (OL-HDF) and intermittent HDF (i-HDF), may be required to optimize care in complex cases.

Case presentation: We report the case of a 27-year-old Japanese woman with ESKD who transitioned from OL-HDF to i-HDF during pregnancy due to progressive hypoalbuminemia at 30 + 5 weeks of gestation. Dry weight adjustments were guided by human atrial natriuretic peptide (hANP) levels, blood pressure measurements, and bioimpedance analysis. i-HDF reduced albumin loss compared to OL-HDF, stabilized maternal hemodynamics, and enabled term delivery at 39 + 1 weeks with a healthy neonate weighing 2,774 g. Bioimpedance analysis and hANP-guided adjustments allowed for precise fluid management, resulting in a total gestational weight gain of 6.4 kg. The patient developed superimposed preeclampsia during labor, which was successfully managed.

Conclusion: This case demonstrates that sequential OL-HDF and i-HDF can effectively address hypoalbuminemia and fluid imbalances, contributing to successful maternal and neonatal outcomes in ESKD pregnancies.

Introduction: Lautropia mirabilis is a rare cause of peritonitis associated with peritoneal dialysis-associated peritonitis (PDAP). We report the first documented case of PDAP caused by coinfection with L. mirabilis, cytomegalovirus (CMV), and Epstein-Barr virus (EBV).

Case presentation: A 67-year-old woman with end-stage renal disease secondary to polycystic kidney disease, on continuous ambulatory peritoneal dialysis for 3 years, developed PDAP. Initial peritoneal dialysis effluent (PDE) culture grew Streptococcus salivarius, and symptoms resolved with treatment. However, she was readmitted 2 days later with recurrent PDAP. Despite 18 days of empirical antibiotic therapy and repeated negative PDE cultures, the patient's symptoms persisted. Upon her transfer to our hospital, PDE white blood cell (WBC) count was 110 × 10⁶/L. Targeted next-generation sequencing (tNGS) of the PDE performed on day one detected L. mirabilis (16,929 reads), CMV (944 reads), and EBV (285 reads). Therapy with intravenous moxifloxacin, intraperitoneal gentamicin, and oral ganciclovir led to rapid WBC decline and clinical improvement within 48 h. After 1 week of inpatient monitoring, the patient was discharged with a 2-week course of oral moxifloxacin. At the 2-week follow-up, the patient was asymptomatic with normal PDE WBC counts.

Conclusion: Conventional culture methods may fail to detect uncommon pathogens, such as L. mirabilis. Culture-negative PDAP often necessitates empirical antibiotic therapy, carrying a high risk of failure and increased healthcare costs. This case suggests that tNGS could be used as a complementary diagnostic tool in selected cases of refractory, culture-negative PDAP, potentially aiding the identification of pathogens and guiding therapy.

Introduction: Sepsis remains a critical global health issue, causing multiple organ failure and high mortality rates, despite advances in antimicrobial therapies and supportive care. Extracorporeal blood purification (EBP) techniques have emerged as promising adjunctive strategies for the management of severe infections. The Seraph^® 100 Microbind^® Affinity Blood Filter (Seraph 100, ExThera Medical, Martinez, CA, USA) targets pathogens, while the Selective Cytopheretic Device (SCD, SeaStar Medical, Denver, CO, USA) neutralizes activated leukocytes. Although individually validated, evidence of the combined use of Seraph 100 and SCD remains scarce.

Case presentations: We present two cases that illustrate the combined use of Seraph 100 and SCD. The first case involves a 43-year-old woman with bacterial pneumonia, septic shock, and acute kidney injury (AKI). She underwent Seraph 100 hemoperfusion followed by SCD therapy, which improved her hemodynamics, oxygenation, and renal function, ultimately leading to full recovery. The second case involved a 31-year-old man with influenza, severe hypoxemia, and multi-organ failure. Despite advanced therapies, including veno-arterial venous extracorporeal membrane oxygenation, Seraph 100, and SCD, his condition deteriorated, resulting in multi-organ failure and eventual death.

Conclusion: These cases highlight the potential benefits and challenges of combining EBP, such as Seraph 100 and SCD. While successful in one case, the fatal outcome in the second underscores the importance of optimal patient selection, timing, and therapeutic strategies. Further research is needed to evaluate the efficacy of combined EBP and to identify approaches for improving outcomes in critically ill patients.

Introduction: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the cause of COVID-19, can progress to life-threatening disease and multiorgan failure, and the degree of circulating SARS-CoV-2 directly correlates to clinical deterioration and mortality. The engineered FcMBL protein binds numerous pathogens, including SARS-CoV-2, and pathogenic debris known as pathogen-associated molecular patterns (PAMPs).

Case presentation: We report the first clinical use of an extracorporeal filter utilizing FcMBL to bind and remove pathogens and PAMPs from the circulation of a critically ill patient with COVID-19-induced multiorgan failure.

Conclusion: This case highlights the feasibility of using the novel filter to reduce the circulating pathogen load in patients with severe infection through the use of agnostic pathogen binding via FcMBL.

Introduction: Severe hypercalcemia is a potentially life-threatening condition that often requires urgent medical intervention, especially when refractory to conventional treatments. Continuous renal replacement therapy (CRRT) with regional citrate anticoagulation (RCA) is a therapeutic option, although data on its use in hypercalcemia are limited.

Case presentation: We report the case of a 78-year-old woman who presented with severe hypercalcemia (4.89 mmol/L, corrected for albumin), ECG changes, muscle weakness, and acute kidney injury. She was unresponsive to standard treatments including crystalloids, diuretics, calcitonin, and bisphosphonates. Imaging revealed multiple lytic bone lesions and a mediastinal mass, with biopsy confirming diffuse large B-cell lymphoma. Continuous venovenous hemodialysis (CVVHD) with RCA was initiated after other therapies failed to lower calcium levels and symptoms persisted. Initial challenges with anticoagulation were resolved by increasing the citrate dose, along with an adapted calcium supplementation rate, leading to successful normalization of calcium levels within 30 h. Careful monitoring of post-filter calcium, systemic calcium and total-to-ionized calcium ratios, along with rapid dose adjustments, prevented complications such as hypocalcemia, citrate accumulation, and rebound hypercalcemia. The patient's calcium levels stabilized and she was transferred to a regular nursing ward to start oncological treatment.

Conclusion: This case highlights the effectiveness of CVVHD with RCA in managing refractory hypercalcemia and underscores the importance of vigilant monitoring and individualized adjustments to prevent treatment-related complications.

Introduction: Sickle cell disorders are the most common hereditary hematological disorders; sickle cell trait (SCT) is largely benign with mild clinical manifestations, if any. Renal cortical necrosis (RCN) is a rare and severe form of kidney injury and, to our knowledge, has not been previously reported to affect the native kidneys of patients with SCT.

Case presentation: We describe a case of a 41-year-old male with a background of SCT who presented with acute abdominal pain and lower abdominal tenderness. He had rapidly rising creatinine over 48 h from 229 to 526 µmol/L, as well as elevated lactate dehydrogenase and total bilirubin at 2,606 U/L and 31 µmol/L, respectively. His toxicology, viral, and autoimmune profiles were negative, with a normal kidney ultrasound scan. The kidney biopsy revealed diffuse RCN. The patient was managed conservatively and had partial recovery of his kidney function to a baseline creatinine of 176 µmol/L 6 months later.

Conclusion: Although SCT has long been considered a benign condition, growing evidence suggests that vaso-occlusive manifestations can occur, especially in the context of physiological stressors. This is the first described case of diffuse RCN affecting the native kidneys of a patient with SCT without an identifiable stressor, highlighting the need for vigilance in managing SCT and its potential severe kidney manifestations.