Case Reports in Nephrology and Dialysis最新文献

Autosomal dominant polycystic kidney disease (ADPKD) is present in individuals with chronic renal disease due to bilateral renal cysts. This case report describes the progression of the disease with the rare complication of renal torsion of the transplanted kidney in a patient with ADPKD. To our knowledge, this clinical incidence of renal torsion posttransplant has only been reported in 40 cases in the literature, of which only 3 cases involved ADPKD with two intraperitoneal and one retroperitoneal kidney allograft. The allografts in these 3 cases were salvaged by performing a nephropexy, while our novel case of intraperitoneal renal torsion in ADPKD resulted in loss of allograft viability. A 51-year-old female patient received a living, unrelated donor kidney transplant for end-stage renal disease secondary to ADPKD. She underwent a bilateral native nephrectomy 3 years later. Five years posttransplant, the patient presented to the hospital with significant right lower quadrant abdominal discomfort, oliguria, and nausea. Following admission to the transplant service, she underwent an exploratory laparotomy which revealed a 180-degree counterclockwise torsion of the transplanted intraperitoneal kidney. Renal detorsion was attempted; however, extensive renal infarction occurred, resulting in poor transplant viability. Currently, the patient is undergoing hemodialysis 3 times a week with a plan for re-transplantation when stable. The patient is continuing her immunosuppression regimen and prophylaxis in preparation for a future transplantation. Due to the rare incidence of renal torsion posttransplantation in ADPKD, this study emphasizes the importance of postsurgical imaging and recognizing the symptoms of torsion to avoid loss of allograft viability. Promoting ongoing physician and patient education regarding surgical technique, symptom progression, and imaging protocols posttransplantation is recommended, especially in complex genetic conditions such as ADPKD.

Introduction: Primary hyperoxaluria type 1 (PH1) is an inherited disease due to deficient activity of the liver enzyme AGT due to a mutation of the AGXT gene, leading to impairment in the glyoxylate metabolism with excessive oxalate urinary excretion (uOx) causing nephrolithiasis, renal failure, and systemic oxalosis. The historical treatment for renal failure was combined liver-kidney transplantation (CLKT) to restore normal function of AGT enzyme, but in mutations fully responsive to pyridoxine, an isolated kidney transplant (IKT) is feasible. Recently, RNA-interference (RNAi) agents such as lumasiran that reduce the oxalate synthesis in PH1 patients open new therapeutic challenges such as IKT irrespective of the type of AGXT gene mutation. Nevertheless, to decide for IKT instead of CLKT, clinicians must be aware of lumasiran efficacy. At present, the biomarker used to evaluate the lumasiran efficacy is the plasma oxalate (pOx). However, in dialyzed patients, pOx might be influenced by the release of oxalate from the deposits to the blood.

Case presentation: We report the case of a PH1 36-year-old male patient who underwent IKT combined with lumasiran. Two years after transplantation, graft function is good without lithiasis or nephrocalcinosis. 24-h uOx varies from 0.55 to 1.2 mmol/day and pOx remains stable at 12 μmol/L. Allograft biopsies at 1, 6, 12, and 22 months show negligible oxalate crystals deposits.

Conclusion: The novelty of our case lies in the methods we adopted to evaluate the lumasiran efficacy during dialysis prior listing for IKT. Specifically, we decided to list the patient for IKT according to the high plasma levels of glycolate reached after lumasiran treatment together with the significant reduction of the pOx.

Introduction: Onasemnogene abeparvovec is one of the three disease-modifying therapies available that can significantly improve the outcome of patients with 5q-spinal muscular atrophy. Therapy-induced thrombotic microangiopathy is an ultra-rare, but potentially life-threatening condition of not yet clearly defined aetiology.

Case presentation: A case of a 2-year-old patient with 5q-spinal muscular atrophy, who developed thrombotic microangiopathy after gene replacement therapy with onasemnogene abeparvovec, is described. This severe adverse event was promptly recognized and successfully treated with the complement C5 inhibitor.

Conclusion: Thrombotic microangiopathy is an ultra-rare, but potentially life-threatening condition that can occur after onasemnogene abeparvovec therapy. Anticipation of these serious adverse events, its prompt recognition and treatment is crucial for a better outcome.

Introduction: Fibronectin glomerulopathy is a rare autosomal dominant disorder characterized by abnormal deposition of fibronectin within the kidney. It is associated with several variant mutations in the FN1 gene. It is a disorder predominantly characterized by proteinuria that can reach the nephrotic range, and it has been primarily described in Asian and White populations. Here, we report a case of fibronectin glomerulopathy from Ethiopia, which, to our knowledge, is the first ever reported in Africa.

Case presentation: A 17-year-old Ethiopian female presented with generalized body swelling and nephrotic range proteinuria. Secondary causes of nephrotic syndrome were ruled out, but kidney biopsy was not performed early because of financial constraints. The patient received initial treatments with RASi (renin-angiotensin system inhibitor) and diuretics followed by steroids and tacrolimus, but lacked a clear response. Eventually, a kidney biopsy and examination at a pathology laboratory in India revealed extensive periodic acid Schiff-positive but Jones' methenamine silver-negative and Congo red-negative mesangial and capillary wall deposits, which stained strongly for fibronectin on immunohistochemistry. A diagnosis of fibronectin glomerulopathy was made.

Conclusion: Diagnosing fibronectin glomerulopathy could be challenging in many developing nations due to a lack of proper pathological and genetic testing infrastructure. Improving local health infrastructure for kidney tissue diagnosis could improve diagnostic accuracy, better guide management, and help avoid the administration of unnecessary medications with a potential for serious adverse events.

Introduction: Atypical hemolytic uremic syndrome (aHUS), commonly considered the prototypical form of complement-mediated thrombotic microangiopathy, is caused by dysregulated complement activation, often triggered by genetic mutations and external factors. We present a case of aHUS occurring 1 month after SARS-CoV-2 infection in a patient with a mutation in the complement factor H (CFH), a primary regulator of the alternative complement pathway.

Case presentation: A 41-year-old woman with no prior conditions developed acute kidney injury, hemolytic anemia, and thrombocytopenia 1 month after SARS-CoV-2 infection. Genetic testing identified a pathogenic CFH variant (c.3572C>T), and kidney biopsy confirmed thrombotic microangiopathy. Treatment with plasma exchange, corticosteroids, and C5 inhibitors led to remission of proteinuria and improved renal function within 2 months, avoiding dialysis. Even a second SARS-CoV-2 infection 6 months after the onset of aHUS and under continuous complement C5 inhibition did not result in further kidney damage.

Conclusions: Our case report is consistent with observations made by several groups that SARS-CoV-2 infection may trigger aHUS in genetically predisposed individuals. Early diagnosis and complement-targeted therapy are crucial to prevent severe outcomes.

Introduction: Purtscher-like retinopathy (PLR) is a rare retinal vasculopathy characterized by acute vision loss. It is typically associated with systemic diseases such as renal impairment. The combined incidence of Purtscher retinopathy and PLR is estimated at 0.24 cases per million annually. The hallmark of PLR is sudden-onset visual acuity reduction accompanied by retinal findings, including Purtscher flecken, hemorrhages, and cotton-wool spots.

Case presentation: We report a 46-year-old male with a history of chronic hypertension, dyslipidemia, cryoglobulinemia, and multiple viral infections, presenting with sudden bilateral vision loss. Fundoscopy revealed retinal swelling, hemorrhages, and exudation. Laboratory findings indicated impaired renal function (eGFR by CKD-EPI Cr 19 mL/min/1.73 m²), cryoglobulinemia, and signs of chronic kidney disease. A renal biopsy confirmed membranoproliferative glomerulonephritis with immune complex deposition. The patient was treated with corticosteroids, therapeutic apheresis, and supportive care. Visual acuity partially improved in one eye during hospitalization.

Conclusion: PLR is a rare condition often linked to systemic diseases such as renal failure. Its pathophysiology involves retinal microvascular damage, potentially mediated by complement activation. Diagnosis is based on characteristic fundoscopic findings and associated systemic conditions. Corticosteroids remain the most commonly used treatment, although evidence for their efficacy is limited. This case highlights the rare overlap between PLR and renal impairment, emphasizing the importance of early recognition and multidisciplinary management. Further research is needed to elucidate the pathophysiology and optimize treatment protocols for PLR.

Introduction: Peritoneal dialysis (PD) has been demonstrated to be advantageous in the treatment of patients with end-stage kidney disease (ESKD), especially in children. However, patients undergoing PD may experience mechanical problems such as catheter blockages. Obstruction of catheters mainly occur due to bowel dilatation and adhesion of the omentum but also can be caused by fibrin clots, constipation, peritonitis, and surgical procedures.

Case presentation: We reported a case of PD catheter adhesion to the ileum in a 1-year-old girl. Previously, the patient underwent laparoscopic insertion of PD catheter due to ESKD. One month after the procedure, there were signs of catheter obstruction. Laparoscopy evaluation and revision were carried out.

Conclusion: PD catheter malfunction is primarily due to obstruction; early laparoscopic intervention should be considered to address adhesion to other organs, preventing complications and PD discontinuation.

Introduction: Complement 3 glomerulonephritis (C3GN) has a high recurrence rate after kidney transplantation. Before the disease became well understood, kidney transplantation was performed without a diagnosis of C3GN. This report describes a case of recurrent C3GN diagnosed using allograft biopsy and evaluates its long-term clinical and pathological course.

Case presentation: A 35-year-old man with membranoproliferative glomerulonephritis underwent an ABO-compatible living-donor renal transplantation. Three weeks post-transplantation, an allograft biopsy showed prominent granular C3 deposits. One year after transplantation, an allograft biopsy revealed slight mesangial expansion with C3 deposits and a few urinary proteins. Recurrent C3GN was diagnosed based on similar C3 deposition in the native kidney. Eight years post-transplantation, urinary protein levels began to increase and renal function gradually declined. Approximately 10 years after transplantation, an allograft biopsy revealed severe secondary focal segmental glomerulosclerosis and arteriolopathy with no active C3GN lesions. Ten months later, deteriorating kidney function necessitated hemodialysis.

Conclusion: In this case, C3GN recurred early after transplantation, but its activity did not increase for 8 years. The causes of chronic allograft dysfunction vary among cases. More cases and detailed observational studies are needed to determine treatment strategies for recurrent C3GN and graft prognosis.

Introduction: Untreated severe renal disease can be fatal, and renal replacement therapy (RRT) is often essential for survival. However, access to RRT can be limited by resource constraints, particularly in emergency or austere settings. There is a critical need for portable, cost-effective, and efficient medical devices capable of delivering RRT. This case report describes the first-in-human use of the "Kirpa Kit procedure," a manual dialysis device designed to provide RRT when conventional dialysis resources are unavailable or overwhelmed.

Case presentation: A 37-year-old previously healthy male presented with a gunshot wound to the left leg, resulting in significant vascular injury and hemorrhagic shock requiring surgical intervention. Postoperatively, the patient remained intubated and hemodynamically unstable, developing stage 3 acute kidney injury necessitating continuous renal replacement therapy (CRRT). Due to further deterioration and the need for amputation, the patient was confined to the operating room (OR), where CRRT could not be performed. Given the patient's anuria and fluid overload, the nephrology team assessed the patient and determined he was a suitable candidate for manual dialysis using the Kirpa Kit™, with ultrafiltration (UF) as the primary objective for fluid removal. A total of 600 mL of UF was safely removed (UF rate of 600 mL/h), and the patient demonstrated both clinical and ultrasonographic improvement. Notably, portal vein pulsatility decreased from 38% to 31% following the procedure, indicating a reduction in fluid overload. The patient's vital signs remained stable throughout.

Conclusion: The Kirpa Kit procedure was successfully and safely used to manage fluid overload in a critically ill patient, demonstrating its potential as an emergency dialysis device for bridging patients with renal emergencies to standard RRT in resource-limited environments. Further studies are needed to evaluate the device's broader applications and limitations.

Introduction: Posterior urethral valve (PUV) and vesical calculus are individually among the most common causes of obstructive lower urinary symptoms in children. Intermittent urinary retention can be caused by a combination of PUVs and bladder stones. There are very few reports of an association between PUVs and bladder calculus.

Case presentation: We present a case of intermittent urinary retention resulting from a stone obstructing the PUV. The patient experienced intermittent urinary retention for over a month. A computed tomography scan revealed a bladder stone in the posterior urethra. The intracorporeal lithotripsy for calculus with fulguration of the PUV was performed using holmium:YAG laser.

Conclusion: For any boy presenting with urinary retention, we recommend a thorough urethral assessment; the absence of significant abnormalities in the urethra on voiding cystourethrography cannot rule out the presence of relevant PUV; hence, bladder endoscopy may sometimes be required for further evaluation, to rule out vesical calculus and potential PUVs.